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Gene: Gnptab MGI:3643902

Gene Summary

Name:

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits

Synonyms:

EG432486

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
small kidney	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal blood vessel morphology	Gnptab^em1(IMPC)Mbp	HET	E18.5	0.00
preweaning lethality, incomplete penetrance	Gnptab^em1(IMPC)Mbp	HOM	Early adult	0.00
small stomach	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal kidney morphology	Gnptab^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Gnptab^em1(IMPC)Mbp	HOM	E18.5	0.00
no spontaneous movement	Gnptab^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal stomach morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal kidney morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged kidney	Gnptab^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta vasculature	Gnptab^em1(IMPC)Mbp	HOM	E18.5	0.00
cataract	Gnptab^em1(IMPC)Mbp	HET	Early adult	7.52×10^-05
abnormal heart morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged ovary	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged lymph nodes	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
no spontaneous movement	Gnptab^em1(IMPC)Mbp	HET	E18.5	0.00
small heart	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal placenta size	Gnptab^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal spleen morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal lymph node morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged heart	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal ovary morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal skin morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged spleen	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal uterus morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal vitreous body morphology	Gnptab^em1(IMPC)Mbp	HET	Early adult	7.12×10^-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Morphology Embryo E18.5

Images

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

27 Images

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Human diseases caused by Gnptab mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Gnptab (4 diseases)
Human diseases predicted to be associated with Gnptab (2971 diseases)

The table below shows human diseases associated to Gnptab by orthology or direct annotation.

Disease	Matching phenotypes	Source
Mucolipidosis Type Iii Alpha/Beta	Kyphoscoliosis, Generalized osteoporosis, Joint stiffness, Flexion contracture, Osteolysis	ORPHA:423461
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration, Hepatomegaly, Increased serum beta-hexosaminidase	OMIM:252600
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Megalocornea, Mucopolysacchariduria, Splenomegaly, Cardiomegaly, O...	OMIM:252500
Mucolipidosis Type Ii	Postnatal growth retardation, Craniosynostosis, Gingival overgrowth, Limitation of joint mobility...	ORPHA:576

The table below shows human diseases predicted to be associated to Gnptab by phenotypic similarity.

Disease	Matching phenotypes	Source
Deoxyribose-5-Phosphate Aldolase Deficiency	Abnormal circulating enzyme concentration or activity	OMIM:125460
Lactate Dehydrogenase B Deficiency	Reduced circulating lactate dehydrogenase concentration	OMIM:614128
Hydroxyacyl Glutathione Hydrolase Deficiency	Glyoxalase deficiency	OMIM:614033
Alcohol Sensitivity, Acute	Reduced acetaldehyde dehydrogenase level	OMIM:610251
Acatalasemia	Reduced circulating catalase activity	OMIM:614097
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis	OMIM:608805
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Anemia, Ab...	ORPHA:1802
Osteomesopyknosis	Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie...	ORPHA:2777
Medial Condensing Osteitis Of The Clavicle	Limited shoulder movement, Elevated circulating C-reactive protein concentration, Patchy reductio...	ORPHA:57196
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Abnormality of t...	ORPHA:564003
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Hy...	ORPHA:970
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Winchester Syndrome	Carpal osteolysis, Broad metacarpals, Kyphosis, Generalized osteoporosis, Osteolysis involving ta...	OMIM:277950
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon...	ORPHA:2790
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste...	ORPHA:1879
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Oculomotor apraxia, Chorea, Cerebellar atrophy, Impaired distal vibration sensation, Gait ataxia,...	OMIM:208920
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology, Diaphyseal u...	ORPHA:3416
Extensor Tendons Of Finger Anomalies	Camptodactyly of finger, Limitation of joint mobility, Osteoporosis	ORPHA:3294
Spinocerebellar Ataxia Type 43	Limb ataxia, Distal lower limb muscle weakness, Progressive cerebellar ataxia, Distal upper limb ...	ORPHA:497764
Peroxisome Biogenesis Disorder 8B	Decreased liver function, Cerebellar atrophy, Gait ataxia, Corpus callosum atrophy, Rigidity, Ata...	OMIM:614877
Hyaline Fibromatosis Syndrome	Osteopenia, Osteoporosis, Flexion contracture, Progressive flexion contractures, Osteolysis	OMIM:228600
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral atrophy, Inability to walk, Abnormality of extrapyramidal motor function, Mental deterio...	OMIM:617672
Familial Expansile Osteolysis	Thin bony cortex, Pathologic fracture, Osteolysis, Bowing of the long bones	OMIM:174810
Sclerosteosis	Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas...	ORPHA:3152
Ollier Disease	Abnormal metaphysis morphology, Anemia, Joint stiffness, Abnormal cartilage morphology, Multiple ...	ORPHA:296
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Paget Disease Of Bone 4	Osteolysis	OMIM:606263
Gnathodiaphyseal Dysplasia	Osteopenia, Scoliosis, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteo...	ORPHA:53697
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Quadriceps muscle weakness, Proximal muscle weakness in lower limbs...	ORPHA:101097
Isolated Glycerol Kinase Deficiency	Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Osteoporosis	ORPHA:408
Mu-Heavy Chain Disease	Anemia, Increased circulating antibody level, Osteoporosis, Splenomegaly, Abnormal B cell count, ...	ORPHA:100024
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Babinski sign, Distal lower limb muscle weakness, Difficulty walking, Distal sensor...	OMIM:302800
Autosomal Recessive Distal Osteolysis Syndrome	Short distal phalanx of finger, Osteolysis	ORPHA:2776
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Elevated alkaline phosphatase of bone origin, Frontotemporal dementia, Brain atrophy, Frontal cor...	OMIM:167320
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Spastic gait, Babinski sign, Chiari type I malformation, Impaired distal proprioception, Demyelin...	OMIM:619742
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hypermobility, Short distal phalanx of finger, Brachydactyly, Osteoporosis	ORPHA:2787
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Global brain atrophy, Inability to walk, Tongue fasciculations, Spast...	OMIM:618276
Xanthoma Disseminatum	Osteolysis	ORPHA:158003
Juvenile Hyaline Fibromatosis	Joint stiffness, Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis	ORPHA:2028
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Steppage gait, Difficulty walking, Distal sensory impairment, Broad-based gait, Scoliosis, Sensor...	OMIM:614895
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the dentition, Neonatal hyp...	ORPHA:3363
Eiken Syndrome	Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossi...	ORPHA:79106
Spinocerebellar Ataxia Type 25	Babinski sign, Progressive cerebellar ataxia, Distal sensory impairment, Spastic dysarthria, Impa...	ORPHA:101111
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Cerebral atrophy, Kyphoscoliosis, Peripheral hypomyelination, Babinski sign, Axonal degeneration,...	OMIM:604168
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal metaphysis morphology, Reduced bone mineral density, Scoliosis, Hyperlordosis, Bowing of...	ORPHA:2501
Osteoporosis	Osteoporosis	OMIM:166710
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Genu valgum, Scoliosis, Metaphyseal wideni...	OMIM:265900
Adult Krabbe Disease	Urinary incontinence, Erectile dysfunction, Upper limb muscle weakness, Ataxia, Abnormal pons mor...	ORPHA:206448
Hypertrophic Neuropathy Of Dejerine-Sottas	Kyphoscoliosis, Steppage gait, Distal lower limb muscle weakness, Distal sensory impairment, Broa...	OMIM:145900
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Anemia, Abnorma...	ORPHA:3344
Familial Infantile Bilateral Striatal Necrosis	Spastic tetraparesis, Upper limb muscle weakness, Gait ataxia, Rigidity, Ataxia, Myoclonus, Atrop...	ORPHA:225154
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves, Spastic hemiparesis, Progressive extrapyramidal muscular rigidi...	ORPHA:282166
Gorham-Stout Disease	Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Osteolysis involving bones of ...	ORPHA:73
Autosomal Recessive Spastic Paraplegia Type 46	Urinary incontinence, Cerebellar atrophy, Corpus callosum atrophy, Cognitive impairment, Ataxia, ...	ORPHA:320391
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Abnormal form of the v...	ORPHA:93160
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615271
Spastic Paraplegia 32, Autosomal Recessive	Cerebral atrophy, Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Cerebel...	OMIM:611252
Bardet-Biedl Syndrome 4	External genital hypoplasia, Abnormality of the dentition, Obesity, Hypogonadism, Retinal degener...	OMIM:615982
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Spinocerebellar Ataxia Type 38	Difficulty walking, Tremor, Cerebellar atrophy, Distal muscle weakness, Gait ataxia, Somatic sens...	ORPHA:423296
Congenital Disorder Of Glycosylation, Type Iik	Kyphoscoliosis, Diaphyseal dysplasia, Elevated circulating creatine kinase concentration, Osteopo...	OMIM:614727
Spastic Paraplegia 46, Autosomal Recessive	Spastic gait, Urinary incontinence, Cerebellar atrophy, Knee clonus, Kyphosis, Spastic paraplegia...	OMIM:614409
Peutz-Jeghers Syndrome	Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the gall...	ORPHA:2869
Metatropic Dysplasia	Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger...	ORPHA:2635
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Osteolysis	ORPHA:158014
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebral atrophy, Babinski sign, Peripheral axonal neuropathy, Scoliosis, Spasticity, Cerebellar ...	OMIM:619090
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Babinski sign, Steppage gait, Hypertonia, Distal sensory impairment, Scoliosis, Tr...	OMIM:609260
Marinesco-Sjogren Syndrome	Limb ataxia, Cerebellar cortical atrophy, Progressive muscle weakness, Scoliosis, Spasticity, Cer...	OMIM:248800
Sporadic Creutzfeldt-Jakob Disease	Cerebral atrophy, Babinski sign, Memory impairment, Recurrent infections, Neuronal loss in centra...	ORPHA:204
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency	Limb ataxia, Difficulty walking, Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia, Cognit...	ORPHA:363432
Oliver-Mcfarlane Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of penis, Hypogonadotropic hypo...	OMIM:275400
Autosomal Spastic Paraplegia Type 30	Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax...	ORPHA:101010
Osteogenesis Imperfecta, Type Xxii	Abnormal blood phosphate concentration, Reduced bone mineral density, Slender long bone, Bowing o...	OMIM:619795
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Cerebral atrophy, Babinski sign, Urinary incontinence, Apraxia, Memory impairment, Abnormal upper...	OMIM:221770
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Steppage gait, Distal sensory impairment, Axonal degeneration, Scoliosis, Upper limb muscle weakn...	OMIM:616155
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration, Osteoporosis, Gout	OMIM:610947
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim...	OMIM:600785
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar...	OMIM:615268
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Abnormal limb bo...	ORPHA:2204
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Optic atrophy, Peripheral axonal neuropathy, Scoliosis, Cerebellar atrophy, Spastic tetraparesis,...	ORPHA:496756
Charcot-Marie-Tooth Disease, Type 4A	Kyphoscoliosis, Inability to walk by childhood/adolescence, Distal sensory impairment, Hypertroph...	OMIM:214400
Caffey Disease	Increased circulating antibody level, Scoliosis, Calvarial hyperostosis, Periosteal thickening of...	ORPHA:1310
Mantle Cell Lymphoma	Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy	ORPHA:52416
Charcot-Marie-Tooth Disease, Type 4C	Difficulty walking, Distal sensory impairment, Axonal degeneration, Abnormal cranial nerve morpho...	OMIM:601596
Flynn-Aird Syndrome	Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Joint stiffness, Increased bone den...	OMIM:136300
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal metaphysis morphology, Abnormal vertebral morphology, Anemia, Elevated circulating C-rea...	ORPHA:324964
Spinocerebellar Ataxia, Autosomal Recessive 4	Babinski sign, Torticollis, Fasciculations, Peripheral axonal neuropathy, Spasticity, Tremor, Cer...	OMIM:607317
Spinocerebellar Ataxia 43	Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,...	OMIM:617018
Spinocerebellar Ataxia, Autosomal Recessive 16	Limb ataxia, External ophthalmoplegia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebel...	OMIM:615768
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Me...	OMIM:617974
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Steppage gait, Distal lower limb muscle weakness, Distal upper limb muscle weakness, Distal senso...	OMIM:607684
Forsythe-Wakeling Syndrome	Thrombocytopenia, Osteoporosis	OMIM:613606
Autosomal Recessive Spastic Paraplegia Type 32	Babinski sign, Difficulty walking, Cerebellar cortical atrophy, Impaired vibration sensation in t...	ORPHA:171622
Roussy-Levy Hereditary Areflexic Dystasia	Kyphoscoliosis, Distal sensory impairment, Hypertrophic nerve changes, Distal muscle weakness, Ac...	OMIM:180800
Charcot-Marie-Tooth Disease Type 4G	Distal lower limb muscle weakness, Difficulty walking, Distal upper limb muscle weakness, Gait im...	ORPHA:99953
Spastic Paraplegia 7, Autosomal Recessive	Spastic gait, Urinary incontinence, Cerebellar atrophy, Upper limb muscle weakness, Gait ataxia, ...	OMIM:607259
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Hip dysplasia, Kyphos...	ORPHA:2114
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Babinski sign, Steppage gait, Difficulty walking, Distal lower limb muscle weakness, Distal senso...	OMIM:618279
Progressive Pseudorheumatoid Dysplasia	Kyphoscoliosis, Sclerotic vertebral endplates, Platyspondyly, Enlarged metacarpophalangeal joints...	OMIM:208230
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Cerebral atrophy, Hypertonia, Lower limb spasticity, Cerebellar atrophy, Upper limb spasticity, A...	OMIM:613925
Subacute Inflammatory Demyelinating Polyneuropathy	Demyelinating motor neuropathy, Steppage gait, Difficulty walking, Distal sensory impairment, Pos...	ORPHA:206594
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Cataract	ORPHA:2253
Nescav Syndrome	Cerebral atrophy, Optic atrophy, Babinski sign, Inability to walk, Appendicular spasticity, Cereb...	OMIM:614255
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Autosomal Recessive Spastic Paraplegia Type 35	Pontocerebellar atrophy, Urinary incontinence, Oculomotor apraxia, Atrophy/Degeneration affecting...	ORPHA:171629
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, 3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Kyphoscoliosis, Steppage gait, Distal sensory impairment, Hypertrophic nerve changes, Limb muscle...	OMIM:118200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cerebral atrophy, Premature ovarian insufficiency, Progressive muscle weakness, Sensory axonal ne...	OMIM:609286
Myopathy And Diabetes Mellitus	Tip-toe gait, Babinski sign, Progressive cerebellar ataxia, Inability to walk, Peripheral axonal ...	ORPHA:2596
Osteosarcoma	Abnormal metaphysis morphology, Abnormal femoral metaphysis morphology, Pathologic fracture, Abno...	ORPHA:668
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction	Cerebral atrophy, Spasticity, Cerebellar atrophy, Spastic tetraparesis, Gait disturbance, Short s...	OMIM:620515
Charcot-Marie-Tooth Disease Type 2B1	Steppage gait, Distal lower limb muscle weakness, Distal upper limb muscle weakness, Inability to...	ORPHA:98856
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Migraine, Familial Hemiplegic, 1	Confusion, Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia	OMIM:141500
Hyperleucine-Isoleucinemia	Failure to thrive, Retinal degeneration	OMIM:238340
Spinocerebellar Ataxia 37	Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia	OMIM:615945
Spinocerebellar Ataxia 41	Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia	OMIM:616410
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract, Hepatomegaly	ORPHA:79281
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis, Osteoporosis	ORPHA:2786
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Abnormality of extrapyramidal motor function, Neuronal loss in central nervous sys...	OMIM:615362
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Platyspondyly, Short met...	ORPHA:93351
Cerebral Palsy, Ataxic, Autosomal Recessive	Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait	OMIM:605388
Spastic Paraplegia 78, Autosomal Recessive	Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Peripheral axonal ...	OMIM:617225
Ck Syndrome	Abnormal cortical bone morphology, Scoliosis, Hyperlordosis, Kyphosis, Abnormal digit morphology,...	OMIM:300831
Spinocerebellar Ataxia Type 31	Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Impaired vibratory sensation	ORPHA:217012
Infantile Neuronal Ceroid Lipofuscinosis	Chorea, Cerebellar atrophy, Cognitive impairment, Ataxia, Myoclonus, Clumsiness, Poor head contro...	ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Steppage gait, Demyelinating sensory neuropathy, Distal sensory impairment, Peripheral axonal neu...	OMIM:618387
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Cerebellar atrophy, Ataxia, Mental deterioration	OMIM:614706
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Global brain atrophy, Aplasia of the inferior half of the cerebellar vermis, Atrophy of the denta...	OMIM:610185
Autosomal Spastic Paraplegia Type 58	Fasciculations, Chorea, Cerebellar atrophy, Gait ataxia, Tip-toe gait, Babinski sign, Tremor, Sho...	ORPHA:397946
Macular Degeneration, Age-Related, 13	Macular degeneration, Macular scar, Drusen, Choroidal neovascularization	OMIM:615439
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Urinary incontinence, Demyelinating peripheral neuropathy, Cerebellar atrophy, Impotence, Gait at...	ORPHA:98
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Bilateral ptosis, Atrophy/Degeneration affecting the brainstem, Positive Romberg sign, Cerebellar...	OMIM:616479
Spinocerebellar Ataxia, Autosomal Recessive 29	Inability to walk, Lower limb spasticity, Cerebellar vermis atrophy, Peripheral axonal neuropathy...	OMIM:619389
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Metacarpal osteolysis, Carpal osteolysis, Slender long bone, Limitation of joint mobility, Campto...	ORPHA:2774
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin...	ORPHA:166277
Progressive Non-Fluent Aphasia	Frontotemporal cerebral atrophy, Senile plaques, Frontotemporal dementia, Apraxia, Memory impairm...	ORPHA:100070
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Steppage gait, Distal lower limb muscle weakness, Distal upper limb muscle weakness, Distal senso...	OMIM:615185
Spastic Paraplegia 55, Autosomal Recessive	Optic atrophy, Babinski sign, Steppage gait, Difficulty walking, Distal sensory impairment, Lower...	OMIM:615035
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Scol...	ORPHA:137834
Osteopenia And Sparse Hair	Osteopenia, Joint hypermobility	OMIM:259690
Ethanolaminosis	Cardiomegaly	OMIM:227150
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Steppage gait, Difficulty walking, Distal sensory impairment, Segmental peripheral demyelination,...	OMIM:606483
Spinocerebellar Ataxia Type 5	Incoordination, Cerebellar atrophy, Slurred speech, Gait disturbance	ORPHA:98766
Progressive Pseudorheumatoid Arthropathy Of Childhood	Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand joint mobility, ...	ORPHA:1159
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Kyphoscoliosis, Steppage gait, Distal sensory impairment, Hypertrophic nerve changes, Limb muscle...	OMIM:118220
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Babinski sign, Urinary incontinence, Frontotemporal dementia, Memory impairment, Neuronal loss in...	OMIM:600795
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Steppage gait, Distal sensory impairment, Scoliosis, Upper limb muscle weakness, Limb muscle weak...	OMIM:608340
Developmental And Epileptic Encephalopathy 76	Cerebral atrophy, Inability to walk, Lower limb spasticity, Cerebellar atrophy, Upper limb spasti...	OMIM:618468
Null Syndrome	Optic atrophy, Difficulty walking, Inability to walk, Demyelinating peripheral neuropathy, Abnorm...	ORPHA:280234
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Wide humerus, Osteoporosis, Epiphyseal dysplasia, Metaph...	ORPHA:319195
Sorsby Pseudoinflammatory Fundus Dystrophy	Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio...	ORPHA:59181
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Spinocerebellar Ataxia 23	Limb ataxia, Babinski sign, Impaired distal proprioception, Neuronal loss in central nervous syst...	OMIM:610245
Paget Disease Of Bone 2, Early-Onset	Vertebral compression fracture, Sandwich appearance of vertebral bodies, Osteosclerosis of the ul...	OMIM:602080
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Babinski sign, Sensory axonal neuropathy, Scoliosis, Distal muscle weakness, Hypoplasia of the po...	OMIM:620542
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Amyotrophic Lateral Sclerosis 27, Juvenile	Tip-toe gait, Steppage gait, Progressive muscle weakness, Generalized muscle weakness, Lower limb...	OMIM:620285
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Tip-toe gait, Steppage gait, Distal sensory impairment, Axonal degeneration, Fasciculations, Impa...	OMIM:614436
Dermatoosteolysis, Kirghizian Type	Abnormal metaphysis morphology, Tarsal synostosis, Abnormal diaphysis morphology, Scoliosis, Oste...	ORPHA:1657
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Gait ataxia, ...	OMIM:617862
Spinocerebellar Ataxia 17	Urinary incontinence, Chorea, Positive Romberg sign, Cerebellar atrophy, Gait ataxia, Rigidity, A...	OMIM:607136
Leukoencephalopathy, Progressive, With Ovarian Failure	Babinski sign, Premature ovarian insufficiency, Dementia, Apraxia, Spasticity, Cerebellar atrophy...	OMIM:615889
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Retinal flecks, Macular atrophy, Bull's eye maculopathy	OMIM:603649
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Cone-shaped epiphysis, Osteoporosis	ORPHA:71267
Bruck Syndrome 1	Ankle flexion contracture, Platyspondyly, Vertebral wedging, Scoliosis, Elbow flexion contracture...	OMIM:259450
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Optic atrophy, Peripheral axonal neuropathy, Scoliosis, Spasticity, Cerebellar atrophy, Ataxia, F...	OMIM:617207
Burkitt Lymphoma	Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality ...	ORPHA:543
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropathy, Scoli...	OMIM:617087
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Distal muscle weakness, Clumsiness, Dysmyelinating leukodystrophy, Optic atro...	ORPHA:137898
Leukodystrophy, Hypomyelinating, 21	Optic atrophy, Athetosis, Cerebellar atrophy, Corpus callosum atrophy, Growth delay, Dystonia, At...	OMIM:619310
Autosomal Recessive Spastic Paraplegia Type 74	Optic atrophy, Babinski sign, Distal lower limb muscle weakness, Difficulty walking, Peripheral a...	ORPHA:468661
Spinocerebellar Ataxia, Autosomal Recessive 24	Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia	OMIM:617133
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal lower limb muscle weakness, Difficulty walking, Distal upper limb muscle weakness, Periphe...	OMIM:605285
Spinocerebellar Ataxia 35	Babinski sign, Impaired proprioception, Difficulty walking, Neck muscle weakness, Torticollis, In...	OMIM:613908
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ...	OMIM:613496
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Distal sensory impairment, Axonal degeneration, Fasciculations, Gliosis, Tetraplegia, Gait distur...	OMIM:604484
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Decerebrate rigidity, Hyperlordosis, Kyphosis, Cognitive i...	ORPHA:354
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Babinski sign, Cerebellar cortical atrophy, Atrophy/Degeneration affecting the bra...	OMIM:271245
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve...	ORPHA:284332
Spinocerebellar Ataxia 31	Limb ataxia, Cerebellar atrophy, Ataxia, Gait ataxia	OMIM:117210
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Lymphadenopathy, Gastroesophageal reflux	ORPHA:99976
Charcot-Marie-Tooth Disease, Type 4H	Distal lower limb muscle weakness, Peripheral hypomyelination, Distal sensory impairment, Scolios...	OMIM:609311
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Spinocerebellar Ataxia Type 12	Cerebral atrophy, Bradykinesia, Dementia, Tremor by anatomical site, Poor fine motor coordination...	ORPHA:98762
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Kyphoscoliosis, Steppage gait, Distal sensory impairment, Upper limb muscle weakness, Distal musc...	OMIM:605588
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Spinocerebellar Ataxia 45	Limb ataxia, Cerebellar atrophy, Gait ataxia	OMIM:617769
Hall-Riggs Syndrome	Scoliosis, Kyphosis, Osteoporosis, Metaphyseal dysplasia, Brachydactyly, Irregular vertebral endp...	OMIM:234250
Dystonia With Cerebellar Atrophy	Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Cerebellar atrophy, Dystonia	OMIM:611694
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Optic atrophy, External ophthalmoplegia, Babinski sign, Difficulty walking, Urinary incontinence,...	OMIM:612319
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Distal sensory impairment, Axonal degeneration, Distal muscle weakness, Decreased number of perip...	OMIM:606482
Spinocerebellar Ataxia 38	Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Tremor, Per...	OMIM:615957
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Bilateral ptosis, Difficulty walking, Inability to walk, Oculogyric crisis, Scolio...	ORPHA:330050
Epilepsy, Progressive Myoclonic, 8	Limb ataxia, Falls, Atrophy/Degeneration affecting the brainstem, Truncal ataxia, Cerebellar atro...	OMIM:616230
X-Linked Progressive Cerebellar Ataxia	Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Cerebellar vermis ...	ORPHA:1175
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Steppage gait, Distal sensory impairment, Peripheral axonal neuropathy, Facial palsy, Limb muscle...	OMIM:118210
Odontochondrodysplasia 1	Biconvex vertebral bodies, Irregular epiphyses, Platyspondyly, Small epiphyses, Cone-shaped epiph...	OMIM:184260
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Tip-toe gait, Hypertonia, Cognitive impairment, Unsteady gait, Decreased number of peripheral mye...	ORPHA:2386
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Ataxia, Cerebellar atrophy, Inability to walk	OMIM:619333
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint hypermobility, Scoliosis, Osteoporosis	OMIM:616033
Spinocerebellar Ataxia Type 30	Limb ataxia, Cerebellar vermis atrophy, Gait ataxia	ORPHA:211017
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Finger clinodactyly, Coxa valga, Osteoporosis	ORPHA:2958
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Retinal dystrophy, Drusen, Reticular pigmentary degeneration	OMIM:267800
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Babinski sign, Urinary incontinence, Mental deterioration, Spastic tetraparesis, Motor deteriorat...	OMIM:249900
Prieto Syndrome	Coxa valga, Radial deviation of finger, Clinodactyly, Osteoporosis	OMIM:309610
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse...	ORPHA:93284
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy	Spastic tetraparesis, Brain atrophy, Scoliosis, Cerebellar atrophy	OMIM:618741
Familial Hyperprolactinemia	Osteopenia, Osteoporosis	ORPHA:397685
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormal long bone morphology, Calvarial hyperostosis, Hyperlordosis, Elevated circulating creati...	ORPHA:52430
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Keratoderma Hereditarium Mutilans	Osteolysis	ORPHA:494
Spastic Paraplegia Type 7	Spastic gait, Optic atrophy, Babinski sign, Memory impairment, Scoliosis, Impaired vibration sens...	ORPHA:99013
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Distal sensory impairment, Hypertrophic nerve changes, Positive Romberg sign, Distal muscle weakn...	OMIM:601098
Spinocerebellar Ataxia, Autosomal Recessive 12	Limb ataxia, Optic atrophy, Babinski sign, Lower limb spasticity, Cerebellar vermis atrophy, Spas...	OMIM:614322
Cranio-Osteoarthropathy	Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Joint stiffness, Deviati...	ORPHA:1525
Amyotrophic Lateral Sclerosis 3	Cerebellar atrophy, Dementia, Lower limb muscle weakness	OMIM:606640
Macular Dystrophy, Retinal, 1, North Carolina Type	Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen	OMIM:136550
Spinocerebellar Ataxia Type 35	Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Neck muscle weakne...	ORPHA:276193
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Cerebral atrophy, Truncal ataxia, Optic atrophy, Cerebellar atrophy	OMIM:611726
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration, Abnormality of the dentition	OMIM:251700
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Macular Dystrophy, Retinal, 2	Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal...	OMIM:608051
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Proximal muscle weakness in upper limbs, Impaired pain sensation, Impaired distal vibration sensa...	OMIM:607706
Mast Syndrome	Cerebral atrophy, Babinski sign, Hypertonia, Apraxia, Incoordination, Dysdiadochokinesis, Athetos...	OMIM:248900
Maffucci Syndrome	Multiple enchondromatosis, Scoliosis, Recurrent fractures, Osteolysis	ORPHA:163634
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R...	OMIM:615382
Galactosemia Ii	Cataract, Galactosuria	OMIM:230200
Spinocerebellar Ataxia 18	Babinski sign, Sensory axonal neuropathy, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Limb mu...	OMIM:607458
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Scoliosis, Epiphyseal dysplasia, Arachnodactyly, Long hallux, Broad hallux, Abnormal ...	OMIM:615923
Bardet-Biedl Syndrome 18	Cataract, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Steppage gait, Peripheral axonal neuropathy, Limb muscle weakness, Axonal degeneration/regenerati...	OMIM:620378
Spastic Paraplegia 30, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Peripheral axonal neuropathy, Cerebellar atro...	OMIM:610357
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Cognitive impairment, Ataxia, Babi...	OMIM:615157
Coenzyme Q10 Deficiency, Primary, 1	Progressive muscle weakness, Glomerular sclerosis, Recurrent myoglobinuria, Right hemiplegia, Tre...	OMIM:607426
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Steppage gait, Distal sensory impairment, Distal muscle weakness, Axonal regeneration, Decreased ...	OMIM:607731
Cach Syndrome	Gonadal dysgenesis, Atrophy/Degeneration affecting the brainstem, Optic neuritis, Cerebellar atro...	ORPHA:135
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Inability to walk, Highly arched eyebrow, Dandy-Walker malformation, Cerebellar atrop...	ORPHA:438178
Macular Dystrophy, Patterned, 3	Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization	OMIM:617111
Chronic Inflammatory Demyelinating Polyneuropathy	Difficulty walking, Paresthesia, Falls, Spontaneous pain sensation, Sensory ataxia, Unsteady gait...	ORPHA:2932
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Optic atrophy, Inability to walk, Appendicular spasticity, Cerebellar atrophy, Agenesis of corpus...	OMIM:618324
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Grant Syndrome	Abnormal cortical bone morphology, Decreased skull ossification, Bowing of the long bones, Abnorm...	ORPHA:2097
Ceroid Lipofuscinosis, Neuronal, 8	Cerebral atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Loss of amb...	OMIM:600143
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Steppage gait, Distal sensory impairment, Upper limb muscle weakness, Distal muscle weakness, Dec...	OMIM:607677
Ramon Syndrome	Osteolysis	ORPHA:3019
Ceroid Lipofuscinosis, Neuronal, 7	Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Ataxia, Neurodegeneration, Mental deterioration	OMIM:610951
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Cerebellar atrophy, Kyphosis, Gait disturbance, Synophrys, Cleft palate, Ataxia, Progr...	ORPHA:85317
Hypergonadotropic Hypogonadism-Cataract Syndrome	Reduced bone mineral density, Recurrent fractures, Osteoporosis	ORPHA:2410
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Abnormal form...	ORPHA:1486
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Distal sensory impairment, Gait disturbance, Distal muscle weakness, Decreased pho...	OMIM:311070
Neuropathy, Congenital Hypomyelinating, 2	Poor head control, Inability to walk, Scoliosis, Facial diplegia, Sensory ataxia, Respiratory ins...	OMIM:618184
Spastic Paraplegia 11, Autosomal Recessive	Spastic gait, Tip-toe gait, Babinski sign, Urinary incontinence, Lower limb spasticity, Impaired ...	OMIM:604360
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Distal sensory impairment, Tremor, Distal muscle weakness, Decreased number of peripheral myelina...	OMIM:607734
Spinocerebellar Ataxia Type 15/16	Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Action tremor, Head tremor, Upper lim...	ORPHA:98769
Mitochondrial Dna Depletion Syndrome 18	Falls, Axonal degeneration, Tongue fasciculations, Scoliosis, Distal muscle weakness, Clonus, Ele...	OMIM:618811
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Tenosynovial Giant Cell Tumor	Localized osteoporosis, Abnormal shoulder morphology, Limitation of joint mobility, Joint stiffne...	ORPHA:66627
Spastic Ataxia, Charlevoix-Saguenay Type	Spastic gait, Distal muscle weakness, Ataxia, Decreased number of large peripheral myelinated ner...	OMIM:270550
Lichtenstein-Knorr Syndrome	Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti...	OMIM:616291
Charcot-Marie-Tooth Disease, Type 4K	Kyphoscoliosis, Difficulty walking, Dystonia, Ataxia, Peripheral demyelination, Axonal loss	OMIM:616684
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebral atrophy, External ophthalmoplegia, Optic atrophy, Bradykinesia, Distal sensory impairmen...	ORPHA:254886
Sodium-Dependent Multivitamin Transporter Deficiency	Cerebral atrophy, Poor head control, Spasticity, Cerebellar atrophy, Cerebral palsy, Hypoplasia o...	OMIM:618973
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f...	ORPHA:85128
Spastic Ataxia 5, Autosomal Recessive	Oculomotor apraxia, Dysdiadochokinesis, Spasticity, Cerebellar atrophy, Cognitive impairment, Pto...	OMIM:614487
Epilepsy, Progressive Myoclonic 7	Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Mental deterioration	OMIM:616187
Amyotrophic Lateral Sclerosis 8	Progressive muscle weakness, Fasciculations, Neuronal loss in central nervous system, Distal musc...	OMIM:608627
Amyotrophy, Hereditary Neuralgic	Axonal degeneration, Long nasal bridge, Short stature, Ptosis, Cleft palate, Epicanthus, Muscle w...	OMIM:162100
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Cataract, Optic disc pallor	OMIM:165300
Gordon Holmes Syndrome	Cerebral atrophy, Secondary amenorrhea, Chorea, Cerebellar atrophy, Oligomenorrhea, Primary ameno...	OMIM:212840
Arts Syndrome	Optic atrophy, Progressive muscle weakness, Recurrent infections, Tetraplegia, Spinal cord poster...	OMIM:301835
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Bruck Syndrome	Scoliosis, Bowing of the long bones, Osteoporosis, Kyphosis, Joint stiffness, Platyspondyly, Arth...	ORPHA:2771
Macular Dystrophy, Vitelliform, 2	Cystoid macular degeneration, Macular dystrophy, Subretinal fluid	OMIM:153700
Autosomal Recessive Ataxia, Beauce Type	Urinary incontinence, Fasciculations, Atrophy/Degeneration affecting the brainstem, Cerebellar at...	ORPHA:88644
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Charcot-Marie-Tooth Disease, Type 4B2	Kyphoscoliosis, Steppage gait, Difficulty walking, Distal sensory impairment, Distal muscle weakn...	OMIM:604563
Congenital Disorder Of Glycosylation, Type Iiz	Poor head control, Clonus, Diffuse cerebellar atrophy, Appendicular spasticity	OMIM:620201
Leukodystrophy, Hypomyelinating, 17	Cerebral atrophy, Kyphoscoliosis, Inability to walk, Low hanging columella, Anteverted nares, Cer...	OMIM:618006
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Parkinsonism with favorable response to dopaminergic medication, Impaired distal vibration sensat...	OMIM:157640
Leber Congenital Amaurosis 19	Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:618513
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor...	OMIM:616000
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Increa...	ORPHA:3409
Sandhoff Disease, Juvenile Form	Cerebral atrophy, Acroparesthesia, Urinary incontinence, Fasciculations, Incoordination, Abnormal...	ORPHA:309162
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Optic atrophy, Cerebellar atrophy, Slurred speech, Gait ataxia	OMIM:619323
Stargardt Disease 3	Macular dystrophy, Macular atrophy, Macular flecks	OMIM:600110
De Sanctis-Cacchione Syndrome	Ectropion, Ataxia, Severe short stature, Leukodystrophy, Optic atrophy, Defective DNA repair afte...	OMIM:278800
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Gait imbalance, Wide nose, Cerebellar atrophy, Gait ataxia...	ORPHA:488635
Spastic Paraplegia, Ataxia, And Mental Retardation	Spastic gait, Babinski sign, Urinary incontinence, Lower limb spasticity, Impaired vibration sens...	OMIM:607565
Spinocerebellar Ataxia 14	Progressive cerebellar ataxia, Impaired vibration sensation at ankles, Memory impairment, Mental ...	OMIM:605361
Infantile Myofibromatosis	Abnormal metaphysis morphology, Bone cyst, Limitation of joint mobility, Hypercalcemia, Osteolysis	ORPHA:2591
Multiple Sulfatase Deficiency	Cerebral atrophy, Hepatomegaly, Anteverted nares, Spasticity, Cerebellar atrophy, Mucopolysacchar...	OMIM:272200
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Spinocerebellar Ataxia 12	Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Cerebellar atrophy, Head tremo...	OMIM:604326
Dystonia 23	Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Gait disturbance, Head tremor, C...	OMIM:614860
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne...	OMIM:619902
Doyne Honeycomb Retinal Dystrophy	Retinal dystrophy, Reticular pigmentary degeneration	OMIM:126600
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn...	ORPHA:2370
Oculopharyngodistal Myopathy	Proximal muscle weakness in upper limbs, Difficulty walking, Distal upper limb muscle weakness, D...	ORPHA:98897
Liberfarb Syndrome	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin...	OMIM:618889
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Prominent nose, Hypoplasia of the pons, Lumb...	OMIM:616171
Desbuquois Dysplasia 1	Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala...	OMIM:251450
Mitochondrial Complex I Deficiency, Nuclear Type 12	Gait imbalance, Cerebellar atrophy, Myoclonus, Frequent falls, Unsteady gait, Ataxia, Dementia, P...	OMIM:301020
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Osteolysis involving bones ...	ORPHA:371428
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615267
Ceroid Lipofuscinosis, Neuronal, 5	Dysdiadochokinesis, Cerebellar atrophy, Motor deterioration, Cerebral cortical atrophy, Limb trem...	OMIM:256731
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Babinski sign, Steppage gait, Hypertonia, Distal sensory impairment, Narrow palate...	OMIM:616505
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Distal sensory impairment, Peripheral axonal neuropathy, Scoliosis, Distal muscle weakness, Decre...	OMIM:608673
Proteus Syndrome	Kyphoscoliosis, Calvarial hyperostosis, Mandibular hyperostosis, Facial hyperostosis, Splenomegal...	OMIM:176920
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Fused cervical vertebrae, Elevated circulating C-reactive protein concen...	OMIM:612852
Desminopathy	Distal lower limb muscle weakness, Difficulty walking, Progressive muscle weakness, Fatigable wea...	ORPHA:98909
Charcot-Marie-Tooth Disease, Type 4B3	Distal lower limb muscle weakness, Urinary incontinence, Distal sensory impairment, Brain atrophy...	OMIM:615284
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor...	ORPHA:90301
Spinocerebellar Ataxia Type 2	Cerebellar Purkinje layer atrophy, Progressive cerebellar ataxia, Fasciculations, Chorea, Spinal ...	ORPHA:98756
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebral atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Clumsiness,...	OMIM:610003
Mycetoma	Vertebral compression fracture, Abnormal form of the vertebral bodies, Bone cyst, Abnormal append...	ORPHA:2583
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Scoliosis, Hypermobility of interphalangeal joints, Bowi...	OMIM:613849
Spinocerebellar Ataxia, Autosomal Recessive 8	Limb ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Peripheral axonal neuro...	OMIM:610743
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Axonal degeneration, Gowers sign, Waddling gait, Kyphosi...	OMIM:618138
Mitochondrial Complex I Deficiency, Nuclear Type 11	Scoliosis, Kyphosis, Osteoporosis	OMIM:618234
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Babinski sign, Gliosis, Spasticity, Symmetric peripheral demyelination, Impotence, Corpus callosu...	OMIM:169500
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Femoral bowing, Thoracic kyphosis, Broad thumb, Platyspondyly, Short 5th me...	OMIM:619638
Platelet-Activating Factor Acetylhydrolase Deficiency	Platelet-activating factor acetylhydrolase deficiency	OMIM:614278
Morm Syndrome	Cataract, Abnormality of the kidney, Retinal atrophy, Micropenis	ORPHA:75858
Behavioral Variant Of Frontotemporal Dementia	Frontotemporal cerebral atrophy, Frontotemporal dementia, Memory impairment, Fasciculations, Abno...	ORPHA:275864
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebral atrophy, Steppage gait, Distal sensory impairment, Impaired distal proprioception, Perip...	OMIM:607250
Spastic Paraplegia 18B, Autosomal Recessive	Babinski sign, Inability to walk, Lower limb spasticity, Scoliosis, High palate, Kyphosis, Gait d...	OMIM:611225
Juvenile Paget Disease	Cranial hyperostosis, Hyperuricemia, Bowing of the long bones, Osteoporosis, Coarse metaphyseal t...	ORPHA:2801
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Scoliosis, Femoral bowing, Osteoporosis, Platyspondyly, Recurrent fractures	OMIM:126550
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract, Renal tubular dysfunction	ORPHA:1380
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Macular degeneration, Subretinal deposits, Choriocapillaris atrophy, Abnormality of the dentition	OMIM:601553
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukemia, Leukocytosis, Osteoporo...	ORPHA:98850
Retinitis Pigmentosa 31	Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy	OMIM:609923
Spinocerebellar Ataxia, Autosomal Recessive 17	Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ...	OMIM:616127
Immunodeficiency 104	Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, T lymphocytopenia, Splenomegaly	OMIM:608971
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Femoral bowing, Tibial bo...	OMIM:600081
Trichomegaly	Cataract	OMIM:190330
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Progressive psychomotor deterioration, Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity,...	ORPHA:1170
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Bilateral ptosis, Difficulty walking, Generalized muscle weakness, Bulbar palsy, Scoliosis, Progr...	ORPHA:254875
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebral atrophy, Babinski sign, Bradykinesia, Oromandibular dystonia, Scissor gait, Scoliosis, T...	ORPHA:521406
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Steppage gait, Distal sensory impairment, Onion bulb formation, Foot dorsiflexor weakness	OMIM:616039
Spinocerebellar Ataxia, X-Linked 1	Abnormality of extrapyramidal motor function, Cerebellar atrophy, Intention tremor, Action tremor...	OMIM:302500
Tremor, Hereditary Essential, 6	Cerebellar atrophy, Head tremor, Postural tremor, Kinetic tremor, Vocal tremor, Leukodystrophy	OMIM:618866
Spinocerebellar Ataxia Type 37	Falls, Cerebellar vermis atrophy, Dysdiadochokinesis, Truncal ataxia, Tremor, Myoclonus, Gait dis...	ORPHA:363710
Idiopathic Juvenile Osteoporosis	Vertebral compression fracture, Kyphosis, Recurrent fractures, Osteoporosis	ORPHA:85193
Caffey Disease	Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Cortical irregularity, Perio...	OMIM:114000
Cone-Rod Dystrophy 22	Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal blood vessels...	OMIM:619531
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Steppage gait, Distal sensory impairment, Distal muscle weakness, Foot dorsiflexor weakness, Axon...	OMIM:607736
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ...	OMIM:614831
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Myoclonus	OMIM:618876
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Urinary incontinence, Oculomotor apraxia, Mental deterioration, Dysdiadochokinesis, ...	OMIM:617145
Hutchinson-Gilford Progeria Syndrome	Generalized osteoporosis, Osteolysis	OMIM:176670
Bardet-Biedl Syndrome 16	External genital hypoplasia, Obesity, Hypogonadism, Retinal degeneration, Rod-cone dystrophy	OMIM:615993
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Peripheral hypomyelination, Chorea, Scoliosis, Intrauterine growth retardation, Kyphosis, Intenti...	ORPHA:48431
Gaucher Disease Type 1	Osteopenia, Decreased HDL cholesterol concentration, Anemia, Increased circulating antibody level...	ORPHA:77259
Cataract 47	Cataract, Glycosuria, Microcornea	OMIM:612018
Hjv Or Hamp-Related Hemochromatosis	Elevated transferrin saturation, Abnormality of iron homeostasis, Increased circulating ferritin ...	ORPHA:79230
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Paraparetic Variant Of Guillain-Barré Syndrome	Impaired distal proprioception, Peripheral axonal neuropathy, Sciatica, Recurrent acute respirato...	ORPHA:231445
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Opitz Gbbb Syndrome	Hypospadias, Ectopic anus, Vesicoureteral reflux, High palate, Patent foramen ovale, Tracheoesoph...	ORPHA:2745
Spastic Paraplegia 85, Autosomal Recessive	Optic atrophy, Babinski sign, Impaired proprioception, Urinary incontinence, Torticollis, Impaire...	OMIM:619686
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Cognitive impairment, Prolonged neonatal jaundice, Ataxia, Abnormality of the...	ORPHA:909
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Geroderma Osteodysplastica	Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Vertebral compression fra...	ORPHA:2078
Fibrous Dysplasia Of Bone	Rickets, Abnormal femur morphology, Abnormal tibia morphology, Pathologic fracture, Scoliosis, Ab...	ORPHA:249
Rothmund-Thomson Syndrome, Type 1	Osteoporosis	OMIM:618625
Nathalie Syndrome	Cataract	ORPHA:2663
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Oculomotor apraxia, Cerebellar atrophy, Corpus callosum atrophy, Cognitive impairment, Rigidity, ...	ORPHA:412057
Neuromyelitis Optica Spectrum Disorder	Myelitis, Paraplegia, Neuronal loss in central nervous system, Optic neuritis, Functional abnorma...	ORPHA:71211
4H Leukodystrophy	Optic atrophy, Delayed puberty, Decreased response to growth hormone stimulation test, Cerebral h...	ORPHA:289494
2,4-Dienoyl-Coa Reductase Deficiency	Cerebral atrophy, Poor head control, Optic atrophy, Leukodystrophy, Incoordination, Tetraplegia, ...	OMIM:616034
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera...	ORPHA:85184
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Impaired proprioception, Urinary incontinence, Broad-based gait, Recurrent urinary...	OMIM:609033
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Scoliosis, Osteoporosis, Coxa vara, Bowing of the arm, Joint hypermobility, Bowing...	OMIM:619131
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebral atrophy, Babinski sign, Bradykinesia, Apraxia, Falls, Spasticity, Cerebellar atrophy, Ga...	OMIM:300423
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb bone ...	ORPHA:2788
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Osteolysis	ORPHA:391
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Urinary incontinence, Fasciculations, Cerebellar atrophy, Upper limb muscle weakness, Distal musc...	ORPHA:466768
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar ataxia associated with quadru...	OMIM:224050
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero...	OMIM:144750
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Cerebellar atrophy, Intention tremor, Gait ataxia, Short stature, Ataxia, Clumsiness,...	OMIM:608029
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Fi...	ORPHA:1515
Charcot-Marie-Tooth Disease Type 4A	Chronic axonal neuropathy, Inability to walk, Distal sensory impairment, Impaired distal proprioc...	ORPHA:99948
Periventricular Nodular Heterotopia 8	Cerebellar vermis atrophy, Spasticity, Delayed CNS myelination	OMIM:618185
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Bardet-Biedl Syndrome 21	Retinal thinning, Hyperautofluorescent macular lesion, Retinal atrophy, Abnormality of the dentit...	OMIM:617406
Galactosemia Iv	Cataract, Hepatomegaly	OMIM:618881
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Leukodystrophy, Hypomyelinating, 18	Babinski sign, Atrophy/Degeneration affecting the brainstem, Scoliosis, Progressive spasticity, C...	OMIM:618404
Desmoid Tumor	Limitation of joint mobility, Osteolysis	ORPHA:873
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Optic atrophy, Premature ovarian insufficiency, Difficulty walking, Peripheral axonal neuropathy,...	OMIM:619425
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Axonal degeneration, Peripheral axonal neuropathy, Diaphragmatic paralysis, Recurrent acute respi...	OMIM:620011
Progressive Myoclonic Epilepsy With Dystonia	Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Hemiparesis, Diffuse cere...	ORPHA:352596
Perrault Syndrome 1	Gonadal dysgenesis, Scoliosis, Cerebellar atrophy, High palate, Intention tremor, Gait ataxia, Sh...	OMIM:233400
Spinocerebellar Ataxia, Autosomal Recessive 27	Gait imbalance, Torticollis, Gliosis, Spasticity, Cerebellar atrophy, Gait disturbance, Gait atax...	OMIM:618369
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration, Increased neuronal autofluorescent lipopigment	OMIM:601780
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
Spinocerebellar Ataxia, Autosomal Recessive 10	Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Inte...	OMIM:613728
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Retinal degeneration, Bull's eye maculopathy	OMIM:180020
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Intention tremor, Unsteady gait, Ataxi...	OMIM:616948
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morp...	ORPHA:449432
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Ataxia	OMIM:613402
Krabbe Disease	Optic atrophy, Hypertonia, Decerebrate rigidity, Progressive spasticity, Motor deterioration, CNS...	OMIM:245200
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Cerebral atrophy, Inability to walk, Lower limb spasticity, Broad-based gait, Scoliosis, Waddling...	OMIM:616756
Ceroid Lipofuscinosis, Neuronal, 2	Cerebral atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Increased...	OMIM:204500
Mucolipidosis Type Iii	Reduced bone mineral density, Abnormal hip bone morphology, Craniofacial hyperostosis, Abnormal f...	ORPHA:577
Congenital Myopathy 10B, Mild Variant	Difficulty walking, Neck muscle weakness, Progressive muscle weakness, Generalized muscle weaknes...	OMIM:620249
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Delayed ossification of carpal bones, Kyphosis, Short femoral neck,...	OMIM:618392
Brachyolmia Type 1, Hobaek Type	Osteopenia, Short iliac bones, Squared-off platyspondyly, Platyspondyly, Flattened proximal radia...	OMIM:271530
Laing Early-Onset Distal Myopathy	Neck muscle weakness, Progressive muscle weakness, Scoliosis, Weakness of orbicularis oculi muscl...	ORPHA:59135
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Congenital Arthrogryposis With Anterior Horn Cell Disease	Cerebral atrophy, Difficulty walking, Inability to walk, Abnormal anterior horn cell morphology, ...	OMIM:611890
Microlissencephaly	Hypertonia, Cerebral dysmyelination, Cerebellar atrophy, Cerebral cortical atrophy, Pneumonia	ORPHA:1083
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Charcot-Marie-Tooth Disease, Type 4D	Kyphoscoliosis, Distal sensory impairment, Impaired distal proprioception, Impaired distal vibrat...	OMIM:601455
Pachydermoperiostosis	Anemia, Abnormal cortical bone morphology, Arthritis, Scoliosis, Limitation of joint mobility, Os...	ORPHA:2796
Kimura Disease	Abnormal salivary gland morphology	ORPHA:482
Spinocerebellar Ataxia, Autosomal Recessive 20	Kyphoscoliosis, Short palpebral fissure, Babinski sign, Hepatomegaly, Wide nasal base, Inability ...	OMIM:616354
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Cerebellar atrophy, Sparse lateral eyebrow, Ataxia, Low alkaline phosphatase, Elevated circulatin...	OMIM:618879
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Carpal bone hypoplasia, Genu valgum, Ivory epiphyses of the toes, Hip subluxation, Small epiphyse...	OMIM:226980
Neurodegeneration With Brain Iron Accumulation 7	Cerebral atrophy, Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Loss of ambulation...	OMIM:617916
Spinocerebellar Ataxia 25	Babinski sign, Oculomotor apraxia, Impaired pain sensation, Scoliosis, Abolished vibration sense,...	OMIM:608703
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Steppage gait, Distal lower limb muscle weakness, Foot osteomyelitis, Fasciculations, Distal musc...	OMIM:600882
Multiple Mitochondrial Dysfunctions Syndrome 6	Optic atrophy, Poor head control, Inability to walk, Atrophy/Degeneration affecting the brainstem...	OMIM:617954
Mitochondrial Complex I Deficiency, Nuclear Type 15	Optic atrophy, Cerebellar atrophy, Kyphosis, CNS demyelination, Neonatal death, Dystonia, Spastic...	OMIM:618237
Pontocerebellar Hypoplasia, Type 2D	Cerebral atrophy, Appendicular spasticity, Cerebellar vermis atrophy, Chorea, Cerebellar atrophy,...	OMIM:613811
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Widely spaced teeth, Retinal dystrophy, Attenuation of r...	OMIM:616108
Spastic Ataxia 9, Autosomal Recessive	Hoffmann sign, Babinski sign, Premature ovarian insufficiency, Cerebellar vermis atrophy, Spastic...	OMIM:618438
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Splenomegaly	OMIM:615285
Dystonia 22, Juvenile-Onset	Oromandibular dystonia, Torticollis, Lower limb spasticity, Mental deterioration, Dysdiadochokine...	OMIM:620453
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Osteoarthritis of the elbow, Hip osteoarthritis, Knee osteoarthritis, Abnormal femora...	ORPHA:2619
Pelizaeus-Merzbacher Disease	Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelination, Cognitive impairm...	OMIM:312080
Schwartz-Jampel Syndrome, Type 1	Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Anterior bowing of long bo...	OMIM:255800
Ataxia-Telangiectasia-Like Disorder 2	Progressive muscle weakness, Cerebellar atrophy, Conjunctival telangiectasia, Short stature, Unst...	OMIM:615919
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Knee osteoarthritis, Bone cyst, Osteoporosis, Coxa vara, Camptodacty...	ORPHA:2848
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Distal sensory impairment, Upper limb muscle weakness, Distal muscle weakness, Axonal degeneratio...	OMIM:607791
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebral atrophy, Babinski sign, Positive Romberg sign, Spasticity, Cerebellar atrophy, Corpus ca...	OMIM:618088
Ceroid Lipofuscinosis, Neuronal, 10	Cerebral atrophy, Neuronal loss in central nervous system, Sensory axonal neuropathy, Spasticity,...	OMIM:610127
Scholte Syndrome	Kyphoscoliosis, Bifid nasal tip, Cerebellar atrophy, Decreased testicular size, Broad nasal tip, ...	OMIM:300977
Warburg Micro Syndrome 1	Joint hypermobility, Overlapping toe, Kyphoscoliosis, Osteoporosis	OMIM:600118
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Distal lower limb muscle weakness, Dysesthesia, Acute demyelinating polyneuropathy, Unsteady gait...	ORPHA:98916
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spastic dysarthria, Oculomotor apraxia, Peripheral axonal neuropathy, Dysdiadochokinesis, Spastic...	ORPHA:313772
Congenital Disorder Of Glycosylation, Type Iiy	Scoliosis, Hip subluxation, Reduced bone mineral density	OMIM:620200
Spinocerebellar Ataxia 49	Babinski sign, Abnormality of extrapyramidal motor function, Sensory axonal neuropathy, Dysdiadoc...	OMIM:619806
Alg6-Cdg	Jaundice, Protein-losing enteropathy, Failure to thrive, Decreased LDL cholesterol concentration,...	ORPHA:79320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Bilateral ptosis, Positive Romberg sign, Cerebellar atrophy, Impaired distal vibration sensation,...	OMIM:258450
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Difficulty walking, Distal sensory impairment, Upper limb muscle weakness, Distal muscle weakness...	OMIM:608323
L-2-Hydroxyglutaric Aciduria	Abnormality of extrapyramidal motor function, Spastic tetraparesis, Aplasia/Hypoplasia of the cer...	ORPHA:79314
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Reduced bone mineral density, Genu valgum, Broad femoral head, Severe platyspondyly, ...	OMIM:620639
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Ankle weakness, Generalized muscle weakness, Progressive...	ORPHA:98912
Giant Axonal Neuropathy 2, Autosomal Dominant	Steppage gait, Peripheral axonal neuropathy, Impaired distal vibration sensation, Distal muscle w...	OMIM:610100
Spastic Paraplegia 75, Autosomal Recessive	Spastic gait, Optic atrophy, Babinski sign, Spastic dysarthria, Spasticity, Cerebellar atrophy, I...	OMIM:616680
Hengel-Maroofian-Schols Syndrome	Cerebral atrophy, Abnormal CNS myelination, Inability to walk, Gait imbalance, Tetraplegia, Spast...	OMIM:619641
Huntington Disease	Bradykinesia, Neuronal loss in central nervous system, Gliosis, Chorea, Cerebellar atrophy, Gait ...	OMIM:143100
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Premature epimetaphyseal fusio...	ORPHA:85435
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Cerebral atrophy, Macular degeneration, Increased neuronal autofluorescent lipopig...	OMIM:204200
Lopes-Maciel-Rodan Syndrome	Cerebral atrophy, Bradykinesia, Hypertonia, Cerebellar vermis atrophy, Scoliosis, Tremor, Cerebel...	OMIM:617435
Spastic Ataxia 2, Autosomal Recessive	Cerebral atrophy, Babinski sign, Torticollis, Fasciculations, Mental deterioration, Spasticity, T...	OMIM:611302
Leukodystrophy, Hypomyelinating, 14	Cerebral atrophy, Spasticity, Cerebellar atrophy, Growth delay, Dystonia	OMIM:617899
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase concentration, Cerebellar ...	OMIM:203700
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Facial palsy, Sali...	ORPHA:79493
Sialidosis Type 2	Flexion contracture, Kyphosis, Splenomegaly, Osteoporosis	ORPHA:87876
Short Stature, Dauber-Argente Type	Osteopenia, Increased insulin like growth factor binding protein acid labile subunit concentratio...	OMIM:619489
Cockayne Syndrome Type 3	Elevated circulating hepatic transaminase concentration, Demyelinating peripheral neuropathy, Kyp...	ORPHA:90324
Legg-Calvé-Perthes Disease	Short stature, Cartilage destruction, Abnormality of the dentition	ORPHA:2380
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin...	OMIM:300554
Duchenne Muscular Dystrophy	Progressive muscle weakness, Scoliosis, Waddling gait, Cognitive impairment, Proximal muscle weak...	ORPHA:98896
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Genu valgum, Osteoporosis	OMIM:614880
Spinocerebellar Ataxia, Autosomal Recessive 2	Limb ataxia, Cerebellar vermis atrophy, Gliosis, Tremor, Incoordination, Spasticity, Gait ataxia,...	OMIM:213200
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the cerebellum, Synophrys, Cerebral cortical atrophy, Short stature, Downsl...	ORPHA:3207
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Femoral bowing, Bowing of the long bones, Generalized osteoporosi...	OMIM:617952
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Distal sensory impairment, Gait disturbance, Distal muscle weakness, Proximal muscle weakness, Pe...	ORPHA:99944
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral me...	OMIM:614856
Spastic Ataxia 3, Autosomal Recessive	Cerebellar vermis atrophy, Scoliosis, Spasticity, Cerebellar atrophy, Neurogenic bladder, Gait at...	OMIM:611390
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu...	OMIM:259600
Harel-Yoon Syndrome	Optic atrophy, Short nose, Inability to walk, Peripheral axonal neuropathy, Scoliosis, Spasticity...	OMIM:617183
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Metaphyseal irregularity, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal o...	OMIM:241530
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Optic atrophy, External ophthalmoplegia, Inability to walk, Spasticity, Cerebellar atrophy, Growt...	OMIM:617086
Spinocerebellar Ataxia Type 20	Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten...	ORPHA:101110
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure...	ORPHA:93108
Cerebrooculofacioskeletal Syndrome 1	Kyphoscoliosis, Brain atrophy, Gliosis, Cerebellar atrophy, Delayed myelination, CNS demyelinatio...	OMIM:214150
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Distal sensory impairment, Progressive muscle weakness, Peripheral axonal neuropathy, Kyphosis, M...	OMIM:151800
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Babinski sign, Delayed puberty, Spasticity, Tremor, Cerebellar atrophy, Cerebral c...	OMIM:607694
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome...	ORPHA:85445
Pontocerebellar Hypoplasia, Type 3	Cerebral atrophy, Poor head control, Optic atrophy, High, narrow palate, Atrophy/Degeneration aff...	OMIM:608027
Metachromatic Leukodystrophy	Optic atrophy, Babinski sign, Urinary incontinence, Gallbladder dysfunction, Bulbar palsy, Mental...	OMIM:250100
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology	ORPHA:100025
Cerebral Visual Impairment	Optic atrophy, Oculomotor apraxia, Optic nerve hypoplasia, Clumsiness, Central nervous system deg...	ORPHA:447788
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os...	OMIM:156510
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebral atrophy, Hypertonia, Cerebellar atrophy, Spastic tetraplegia	OMIM:618730
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Opisthotonus, Sulfite oxidase deficiency, Aldehyde oxidase deficiency, Myoc...	OMIM:252150
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cholestasis, Distal muscle weakness, Prolonged neonatal jaundice, Ataxia, Acute hepatic failure, ...	OMIM:256810
Autosomal Recessive Spastic Paraplegia Type 78	Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Dementia, Peripheral axonal neu...	ORPHA:513436
Congenital Bile Acid Synthesis Defect Type 1	Splenomegaly, Osteoporosis	ORPHA:79301
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Temporal cortical atrophy, Frontal cortical atrophy, Retrocerebellar cyst, Intention tremor, Prom...	ORPHA:137831
Pseudopseudohypoparathyroidism	Brachydactyly, Short metacarpal, Short metatarsal, Osteoporosis	OMIM:612463
Alexander Disease	Chorea, Scoliosis, Hyperlordosis, Facial palsy, Tremor, Gait disturbance, Kyphosis, Tetraplegia, ...	ORPHA:58
Glycosylphosphatidylinositol Biosynthesis Defect 15	Optic atrophy, Inability to walk, Apraxia, Anteverted nares, Spasticity, Tremor, Cerebellar atrop...	OMIM:617810
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Progressive muscle weakness, Elevated circulating hepatic transaminase concentration, Facial pals...	OMIM:610131
Juvenile Huntington Disease	Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Cerebellar vermis atrophy, Chorea,...	ORPHA:248111
Spinocerebellar Ataxia, Autosomal Recessive 21	Limb ataxia, Hepatomegaly, Distal sensory impairment, Paresthesia, Impaired pain sensation, Cereb...	OMIM:616719
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Decreased liver function, Difficulty walking, Broad-based gait, Cerebellar vermis atrophy, Poor f...	ORPHA:512260
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Steppage gait, Distal sensory impairment, Scoliosis, Distal muscle weakness, Decreased number of ...	OMIM:615376
Mitochondrial Complex I Deficiency, Nuclear Type 19	Optic atrophy, Inability to walk, Scoliosis, Athetosis, Cerebellar atrophy, Gait disturbance, Del...	OMIM:618241
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebral atrophy, Difficulty walking, Scoliosis, Progressive spasticity, Cerebellar atrophy, Head...	ORPHA:527497
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Rabson-Mendenhall Syndrome	Clitoral hypertrophy, Long penis, High palate, Furrowed tongue, Cardiomyopathy, Ventricular septa...	ORPHA:769
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, Inability to walk, Peripheral axonal neuropathy, Scoliosis, Facial diplegia, Tremor, ...	OMIM:218000
Spinocerebellar Ataxia 5	Limb ataxia, Poor head control, Broad-based gait, Incoordination, Dysdiadochokinesis, Cerebellar ...	OMIM:600224
Cerebellar Ataxia, Cayman Type	Bradykinesia, Broad-based gait, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Intention tremor...	OMIM:601238
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Charcot-Marie-Tooth Disease Type 1F	Urinary incontinence, Fasciculations, Optic nerve hypoplasia, Positive Romberg sign, Gait ataxia,...	ORPHA:101085
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Optic nerve compression, Abnormal o...	ORPHA:79078
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Impaired proprioception, Truncal titubation, Abnormal peripheral nerve morphology by anatomical s...	ORPHA:88628
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Tbck-Related Intellectual Disability Syndrome	Global brain atrophy, Decreased response to growth hormone stimulation test, Progressive muscle w...	ORPHA:488632
Alpha-B Crystallin-Related Late-Onset Myopathy	Difficulty walking, Neck muscle weakness, Facial diplegia, Progressive proximal muscle weakness, ...	ORPHA:399058
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hyperlipidemia, Osteoporosis	ORPHA:369
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Aganglionic megacolon, Telecanthus, Hypoplasia of penis, Recurrent urinary tract i...	ORPHA:847
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Reduced bone mineral density, Genu valgum, Small epiphyses, Upper limb un...	ORPHA:94068
Congenital Disorder Of Glycosylation, Type Iibb	Cerebellar vermis hypoplasia, Spasticity, Tremor, Cerebellar atrophy, Delayed CNS myelination, An...	OMIM:620546
Spinocerebellar Ataxia 48	Babinski sign, Urinary incontinence, Mental deterioration, Chorea, Tremor, Cerebellar atrophy, Ga...	OMIM:618093
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Spinocerebellar Ataxia 28	Limb ataxia, Babinski sign, Spasticity, Cerebellar atrophy, Gait ataxia, Ptosis, Lower limb hyper...	OMIM:610246
Spinocerebellar Ataxia 42	Spastic gait, Babinski sign, Urinary incontinence, Impaired vibration sensation at ankles, Tremor...	OMIM:616795
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Parastremmatic Dwarfism	Scoliosis, Kyphosis, Severe short stature, Flexion contracture, Short neck	OMIM:168400
Developmental And Epileptic Encephalopathy 37	Cerebral atrophy, Hyperkinetic movements, Chorea, Spasticity, Cerebellar atrophy, Gait disturbanc...	OMIM:616981
Severe Intellectual Disability And Progressive Spastic Paraplegia	Babinski sign, Difficulty walking, Spastic dysarthria, Spasticity, Cerebellar atrophy, Waddling g...	ORPHA:280763
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Tremor, Cerebellar atrophy, Short attention span, Ataxia, Myoclonus, Impai...	OMIM:619028
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Spinocerebellar Ataxia 19	Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Cogwheel rigidity...	OMIM:607346
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Spastic dysarthria, Oculomotor ...	ORPHA:363429
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Acute Disseminated Encephalomyelitis	Severe Epstein Barr virus infection, Myelitis, Herpes simplex encephalitis, Optic neuritis, Sever...	ORPHA:83597
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Osteoporosis	OMIM:620532
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse...	ORPHA:75377
Japanese Encephalitis	Muscle flaccidity, Eyelid fasciculation, Cognitive impairment, Opisthotonus, Myoclonus, Abnormal ...	ORPHA:79139
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Cerebellar atrophy, Unsteady gait, Loss of ambulation, Ataxia, Dysmetria	OMIM:617917
Variant Abeta2M Amyloidosis	Multiple bony cystic lesions, Abnormal salivary gland morphology, Pathologic fracture, Intestinal...	ORPHA:314652
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Limb ataxia, Torticollis, Truncal ataxia, Spasticity, Cerebellar atrophy, Limb dystonia, Cognitiv...	OMIM:617560
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Coenzyme Q10 Deficiency, Primary, 4	Tremor, Cerebellar atrophy, Ptosis, Ataxia, Abnormal pyramidal sign, Myoclonus, Proximal muscle w...	OMIM:612016
Spinocerebellar Ataxia Type 1	Optic atrophy, Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Gait imbalan...	ORPHA:98755
Spinocerebellar Ataxia Type 17	Cerebellar Purkinje layer atrophy, Torticollis, Writer's cramp, Neuronal loss in central nervous ...	ORPHA:98759
Peripheral Cone Dystrophy	Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor	OMIM:609021
Mucolipidosis Type Iii Alpha/Beta	Kyphoscoliosis, Generalized osteoporosis, Joint stiffness, Flexion contracture, Osteolysis	ORPHA:423461
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Triosephosphate Isomerase Deficiency	Cerebral atrophy, Jaundice, Progressive muscle weakness, Cholelithiasis, Spasticity, Tremor, Kyph...	OMIM:615512
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
New-Onset Refractory Status Epilepticus	Global brain atrophy, Confusion, Cognitive impairment, Cerebellar edema, Infectious encephalitis	ORPHA:363558
Myopathy, Scapulohumeroperoneal	Progressive muscle weakness, Scoliosis, Hyperlordosis, Facial palsy, Foot dorsiflexor weakness, N...	OMIM:616852
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebral atrophy, Hyperkinetic movements, Inability to walk, Oculogyric crisis, Chorea, Scoliosis...	OMIM:614254
Indolent Systemic Mastocytosis	Increased proportion of CD25+ mast cells, Osteoporosis, Mastocytosis, Splenomegaly, Abnormal mast...	ORPHA:98848
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Optic atrophy, Distal lower limb muscle weakness, Progressive cerebellar ataxia, Cerebellar vermi...	ORPHA:466794
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Bardet-Biedl Syndrome 2	External genital hypoplasia, Obesity, Hypogonadism, Retinal degeneration, Rod-cone dystrophy	OMIM:615981
Cantu Syndrome	Platyspondyly, Short hallux, Cuboid-shaped vertebral bodies, Osteoporosis, Metaphyseal widening, ...	OMIM:239850
Autosomal Recessive Centronuclear Myopathy	Progressive muscle weakness, Gowers sign, Facial diplegia, Waddling gait, Facial palsy, Hyperlord...	ORPHA:169186
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Cerebral atrophy, Cerebellar atrophy, Gait ataxia, Short stature, Short neck, Recurrent respirato...	ORPHA:320385
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, Gait disturbance, Ga...	OMIM:618090
Congenital Neuronal Ceroid Lipofuscinosis	Abnormal astrocyte morphology, Abnormal circulating enzyme concentration or activity, Gliosis, Sp...	ORPHA:168486
Distal Anoctaminopathy	Proximal muscle weakness in upper limbs, Difficulty walking, Distal lower limb muscle weakness, P...	ORPHA:399096
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hand paresthesia, Vocal cord paralysis, Muscle weakness, Segmental peripheral demyelination/remye...	OMIM:162500
Congenital Disorder Of Glycosylation, Type Iih	Scoliosis, Cerebellar atrophy, Ataxia, Elevated serum transaminases during infections, Elevated c...	OMIM:611182
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Peripheral hypomyelination, Cerebral dysmyelination, Short-segment aganglionic megacolon, Demyeli...	OMIM:609136
Neurodevelopmental Disorder With Involuntary Movements	Cerebral atrophy, Poor head control, Hyperkinetic movements, Atrophy/Degeneration affecting the b...	OMIM:617493
Spinocerebellar Ataxia 46	Limb ataxia, Sensory axonal neuropathy, Positive Romberg sign, Cerebellar atrophy, Gait ataxia, D...	OMIM:617770
Infantile Refsum Disease	Optic atrophy, Hepatomegaly, Progressive muscle weakness, Spasticity, Facial palsy, Short stature...	ORPHA:772
Immunodeficiency 83, Susceptibility To Viral Infections	Herpes simplex encephalitis, Confusion, Gliosis, Hemiparesis, Meningitis, Mental deterioration	OMIM:613002
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Spinocerebellar Ataxia, Autosomal Recessive 32	Limb ataxia, Bradykinesia, Torticollis, Atrophy/Degeneration affecting the brainstem, Cerebellar ...	OMIM:619862
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Palpebral edema, Elevated circulating hepatic transaminase concentration, Bifid ...	OMIM:619475
Microcephaly 10, Primary, Autosomal Recessive	Cerebral atrophy, Hypertonia, Gliosis, Spasticity, Cerebellar atrophy, Cerebellar hemisphere hypo...	OMIM:615095
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Spastic gait, Optic atrophy, 3-Methylglutaconic aciduria, Short nose, Delayed puberty, Optic nerv...	ORPHA:496790
Huntington Disease-Like 1	Bradykinesia, Memory impairment, Chorea, Gliosis, Incoordination, Cerebellar atrophy, Poor fine m...	ORPHA:157941
Spinocerebellar Ataxia, Autosomal Recessive 15	Unsteady gait, Cerebellar atrophy, Ataxia, Gait ataxia	OMIM:615705
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Rheumatoid arthritis, Thromb...	ORPHA:100026
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Spinocerebellar Ataxia Type 42	Spastic gait, Babinski sign, Urinary incontinence, Impaired vibration sensation at ankles, Restin...	ORPHA:458803
Osteogenesis Imperfecta, Type Iii	Slender long bone, Wide anterior fontanel, Scoliosis, Tibial bowing, Kyphosis, Decreased calvaria...	OMIM:259420
Behr Syndrome	Optic atrophy, Babinski sign, Cerebellar vermis atrophy, Truncal ataxia, Tremor, Cerebellar atrop...	OMIM:210000
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Hypocalcemic seizures, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Fe...	OMIM:264700
Spinocerebellar Ataxia 50	Apraxia, Memory impairment, Cerebellar vermis atrophy, Chorea, Cerebellar atrophy, Head tremor, A...	OMIM:620158
Brunet-Wagner Neurodevelopmental Syndrome	Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Thin eyebrow, Wide nasal bridge	OMIM:619690
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia	Spastic gait, Babinski sign, Distal lower limb muscle weakness, Paroxysmal dyskinesia, Peripheral...	OMIM:620538
Galloway-Mowat Syndrome 2, X-Linked	Cerebral atrophy, Minimal change glomerulonephritis, Scoliosis, Spasticity, Cerebellar atrophy, H...	OMIM:301006
Felty Syndrome	Anemia, Arthritis, Abnormal lymphocyte morphology, Limitation of joint mobility, Synovitis, Bone ...	ORPHA:47612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Tip-toe gait, Cerebellar cyst, Difficulty walking, Generalized muscle weakness, Scoliosis, Hyperl...	OMIM:606612
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy	OMIM:617643
Spastic Paraplegia 20, Autosomal Recessive	Spastic gait, Kyphoscoliosis, Babinski sign, Difficulty walking, Impaired vibration sensation at ...	OMIM:275900
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bilateral ptosis, Distal lower limb muscle weakness, Bilateral facial palsy, Generalized muscle w...	ORPHA:254361
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy, Bull's eye maculopathy	OMIM:610381
Crigler-Najjar Syndrome	Jaundice, Memory impairment, Cognitive impairment, Abnormality of the liver, Infectious encephali...	ORPHA:205
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Delayed puberty, Progressive muscle weakness, Gowers sign, Hyperlordosis, High palate, Distichias...	OMIM:600462
Machado-Joseph Disease	External ophthalmoplegia, Facial-lingual fasciculations, Fasciculations, Cerebellar atrophy, Rigi...	OMIM:109150
Pontocerebellar Hypoplasia, Type 1D	Cerebral atrophy, Poor head control, Generalized muscle weakness, Fasciculations, Tongue fascicul...	OMIM:618065
Hepatic Adenomas, Familial	Hepatocellular adenoma, Polycystic ovaries	OMIM:142330
Fragile X Tremor/Ataxia Syndrome	Bradykinesia, Premature ovarian insufficiency, Urinary incontinence, Memory impairment, Resting t...	OMIM:300623
Spinocerebellar Ataxia Type 14	Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Cogni...	ORPHA:98763
Molybdenum Cofactor Deficiency, Complementation Group B	Cerebral atrophy, Short nose, Hypertonia, Xanthinuria, Molybdenum cofactor deficiency, Gliosis, I...	OMIM:252160
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Babinski sign, Torticollis, Cerebellar vermis atrophy, Sensory axonal neuropathy, Limb dystonia, ...	OMIM:619054
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebral atrophy, Babinski sign, Cerebellar vermis atrophy, Tongue fasciculations, Cerebellar atr...	OMIM:618170
Spinocerebellar Ataxia 11	Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Cerebellar atrophy, G...	OMIM:604432
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Cerebellar atrophy	OMIM:615596
Spondyloepiphyseal Dysplasia, Maroteaux Type	Kyphoscoliosis, Genu valgum, Generalized osteoporosis, Short palm, Short femoral neck, Platyspond...	OMIM:184095
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	3-Methylglutaconic aciduria, Hepatomegaly, Hypospadias, Cerebral cortical atrophy, Growth delay, ...	ORPHA:1194
Giant Axonal Neuropathy 1, Autosomal Recessive	Steppage gait, Distal sensory impairment, Sensory axonal neuropathy, Scoliosis, Facial palsy, Dis...	OMIM:256850
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Cerebral atrophy, Macular degeneration, Increased neuronal autofluorescent lipopig...	OMIM:256730
Mitochondrial Complex I Deficiency, Nuclear Type 5	Optic atrophy, Babinski sign, Hepatomegaly, Brain atrophy, Cerebellar atrophy, Growth delay, Ptos...	OMIM:618226
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Spinocerebellar Ataxia 40	Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tre...	OMIM:616053
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Limb ataxia, Progressive cerebellar ataxia, Abnormal circulating enzyme concentration or activity...	ORPHA:284289
Ataxia-Telangiectasia-Like Disorder	Oculomotor apraxia, Cerebellar vermis hypoplasia, Chorea, Dysdiadochokinesis, Cerebellar atrophy,...	ORPHA:251347
Cog7-Cdg	Postnatal growth retardation, Jaundice, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79333
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Spinocerebellar Ataxia Type 27	Limb ataxia, Akinesia, Difficulty walking, Memory impairment, Truncal ataxia, Sensory axonal neur...	ORPHA:98764
Muscular Dystrophy, Congenital, With Or Without Seizures	Progressive muscle weakness, Frequent falls, Loss of ambulation, Ataxia, Muscle weakness, Proxima...	OMIM:620166
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Inability to walk, Broad-based gait, Axonal degeneration, Peripheral axonal neuropathy, Vocal cor...	OMIM:615490
Retinal Dystrophy And Obesity	Retinal dystrophy, Retinal detachment, Retinal dots, Obesity, Attenuation of retinal blood vessel...	OMIM:616188
Adrenomyeloneuropathy	Spastic gait, Urinary incontinence, Erectile dysfunction, Cerebral dysmyelination, Cognitive impa...	ORPHA:139399
Stargardt Disease	Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions...	ORPHA:827
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Disproportionate short stature, Abnormal form of the vertebral bodie...	ORPHA:40
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Retractile testis, Urinary incontinence, Atrophy/Degeneration affecting the brainstem, Tongue fas...	OMIM:617193
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Cerebral atrophy, Difficulty walking, Urinary incontinence, Lower limb spasticity, Scoliosis, Spa...	ORPHA:464282
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, Dystonia, Abnormal pyramidal sign, Myo...	ORPHA:139485
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Clinodactyly, Osteoporosis	OMIM:614838
Spinocerebellar Ataxia, Autosomal Recessive 26	Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc...	OMIM:617633
Serrated Polyposis Syndrome	Ovarian neoplasm, Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Prostate...	ORPHA:157798
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Absent eyelashes, Absent eyebro...	OMIM:182815
Spinocerebellar Ataxia, Autosomal Recessive 14	Dysdiadochokinesis, Spasticity, Cerebellar atrophy, Gait ataxia, Intention tremor, Unsteady gait,...	OMIM:615386
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Congenital Disorder Of Glycosylation, Type Iin	Cerebral atrophy, Poor head control, Inability to walk, Recurrent infections, Cerebellar vermis a...	OMIM:616721
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Progressive clavicular acroosteolysis, Scoliosis, Osteolytic defects of t...	OMIM:614008
Vitamin D-Dependent Rickets, Type 2A	Rickets, Hypocalcemic seizures, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, ...	OMIM:277440
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebral atrophy, Inability to walk, Cerebellar atrophy, Motor deterioration, Frequent falls, Gai...	ORPHA:1947
Typhoid	Hypertonia, Hepatomegaly, Skin rash, Tremor, Ataxia, Splenomegaly, Epistaxis, Infectious encephal...	ORPHA:99745
Menkes Disease	Decreased circulating ceruloplasmin concentration, Metaphyseal spurs, Osteoporosis, Metaphyseal w...	OMIM:309400
Leprechaunism	Enlarged kidney, Hepatomegaly, Rectal prolapse, Clitoral hypertrophy, Long penis, Hypercalciuria,...	ORPHA:508
Machado-Joseph Disease Type 3	Facial-lingual fasciculations, Cerebellar atrophy, Distal muscle weakness, Clumsiness, Babinski s...	ORPHA:276244
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Spinocerebellar Ataxia 2	Urinary incontinence, Oculomotor apraxia, Fasciculations, Cerebellar atrophy, Action tremor, Rigi...	OMIM:183090
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis	OMIM:619164
X-Linked Intellectual Disability, Hedera Type	Babinski sign, Inability to walk, Apraxia, Scoliosis, Extrapyramidal muscular rigidity, Cerebella...	ORPHA:93952
Benign Schwannoma	Abnormality of the twelfth cranial nerve, Intestinal polyposis, Abnormal cranial nerve morphology...	ORPHA:252164
Developmental And Epileptic Encephalopathy 44	Cerebral atrophy, Spasticity, Athetosis, Cerebellar atrophy, Short stature, Dystonia, Delayed CNS...	OMIM:617132
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cerebral atrophy, Highly arched eyebrow, Dandy-Walker malformation, Cerebellar vermis atrophy, Sp...	OMIM:616154
Pontocerebellar Hypoplasia, Type 6	Cerebral atrophy, Poor head control, Narrow palate, Lower limb spasticity, Appendicular spasticit...	OMIM:611523
Peho-Like Syndrome	Optic atrophy, Short nose, Cerebellar atrophy, Epicanthus, Myoclonus	OMIM:617507
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Optic atrophy, Unilateral facial palsy, Torticollis, Limb hypertonia, Bulbar palsy, Anteverted na...	OMIM:618547
Tay-Sachs Disease	Fasciculations, Incoordination, Decerebrate rigidity, Cerebellar atrophy, Distal muscle weakness,...	ORPHA:845
Aicardi-Goutieres Syndrome 4	Cerebral atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Spastici...	OMIM:610333
Best Vitelliform Macular Dystrophy	Cystoid macular degeneration, Choroideremia	ORPHA:1243
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia...	ORPHA:284324
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Pontocerebellar Hypoplasia, Type 1E	Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Myoclonus, Cerebellar hypoplasia	OMIM:619303
Aspergillosis	Invasive pulmonary aspergillosis, Abnormality of the vertebral column, Meningitis, Abnormal esoph...	ORPHA:1163
Aminoacylase 1 Deficiency	Cerebral atrophy, Cerebellar atrophy, Cerebral cortical atrophy, Muscle weakness, Delayed CNS mye...	OMIM:609924
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Syndactyly, Osteoporosis	OMIM:616006
Lissencephaly 4	Babinski sign, Hypertonia, Growth delay, Short stature, Colpocephaly, Agenesis of corpus callosum...	OMIM:614019
Osteogenesis Imperfecta, Type V	Osteopenia, Anterior radial head dislocation, Platyspondyly, Vertebral wedging, Hyperextensibilit...	OMIM:610967
Osteogenesis Imperfecta, Type Xvii	Kyphoscoliosis, Reduced bone mineral density, Platyspondyly, Thin metacarpal cortices, Vertebral ...	OMIM:616507
Usher Syndrome, Type Iv	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc...	OMIM:618144
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebral atrophy, Hypospadias, Low hanging columella, Scoliosis, Vesicoureteral reflux, Cerebella...	OMIM:618659
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Cone/cone-rod dystrophy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy	OMIM:602271
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Charcot-Marie-Tooth Disease, Type 4J	Peripheral hypomyelination, Distal sensory impairment, Gait disturbance, Distal muscle weakness, ...	OMIM:611228
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Spastic Paraplegia 79B, Autosomal Recessive	Fasciculations, Cerebellar atrophy, Spastic paraplegia, Head titubation, Ataxia, Impaired vibrato...	OMIM:615491
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Babinski sign, Hypertonia, Dysdiadochokinesis, Cerebellar atrophy, Glossoptosis, Intention tremor...	OMIM:618356
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Cog5-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Urinary incontinence, Atro...	ORPHA:263487
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, High, narrow palate, Distal sensory impairment, Impaired pain se...	OMIM:618124
Spinocerebellar Ataxia 1	Fasciculations, Chorea, Distal muscle weakness, Cognitive impairment, Impaired vibratory sensatio...	OMIM:164400
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Volvulus, Right ventricular...	ORPHA:335
Charcot-Marie-Tooth Disease, Type 4B1	Distal sensory impairment, Scoliosis, Facial palsy, Distal muscle weakness, Proximal muscle weakn...	OMIM:601382
Spinocerebellar Ataxia Type 29	Oculomotor apraxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxi...	ORPHA:208513
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go...	ORPHA:91348
Cataract 9, Multiple Types	Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Mannosidosis, Alpha B, Lysosomal	Spondylolisthesis, Cerebellar atrophy, Corpus callosum atrophy, Gait ataxia, Splenomegaly, Babins...	OMIM:248500
Peroxisome Biogenesis Disorder 6B	Limb ataxia, Decreased liver function, Distal sensory impairment, Cerebellar atrophy, Impaired di...	OMIM:614871
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Spasticity, Tremor, High palate, Bifid nasal tip, Cerebral cortical atrophy, Ataxi...	OMIM:300983
Intellectual Developmental Disorder, Autosomal Dominant 56	Pontocerebellar atrophy, Ataxia, Lateral ventricle dilatation, Delayed CNS myelination, Clumsines...	OMIM:617854
Mucopolysaccharidosis, Type Iva	Genu valgum, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Hyperlordosis, Osteo...	OMIM:253000
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebral atrophy, Inability to walk, Chorea, Scoliosis, Cerebellar atrophy, High palate, Synophry...	OMIM:617804
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Osteopenia, Scoliosis, Osteoporosis, Coxa vara, Joint stiffness, Hip dysplasia, Osteomal...	ORPHA:1901
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Bowing of the long ...	OMIM:239000
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Nephrotic syndrome, Mesangial hypercellularity, Cataract, Focal segmental glomerulosclerosis	OMIM:620425
Spinocerebellar Ataxia, Autosomal Recessive 18	Babinski sign, Oculomotor apraxia, Truncal ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis,...	OMIM:616204
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Zika Virus Disease	Myelitis, Arthritis, Skin rash, Abnormal optic disc morphology, Acute demyelinating polyneuropath...	ORPHA:448237
Filippi Syndrome	Optic atrophy, Postnatal growth retardation, Low hanging columella, Cerebellar atrophy, Dystonia,...	OMIM:272440
Congenital Muscular Dystrophy Without Intellectual Disability	Tip-toe gait, Kyphoscoliosis, Cerebellar cyst, Difficulty walking, Generalized muscle weakness, F...	ORPHA:370980
Leukodystrophy, Hypomyelinating, 15	Cerebral atrophy, Optic atrophy, Spasticity, Athetosis, Cerebellar atrophy, Intention tremor, Dys...	OMIM:617951
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R...	OMIM:613731
Infantile Neuroaxonal Dystrophy	Optic atrophy, Peripheral axonal neuropathy, Spasticity, Progressive spasticity, Cerebellar atrop...	ORPHA:35069
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Cerebral atrophy, Optic atrophy, Pontocerebellar atrophy, Narrow palate, Wide nose, Brain atrophy...	OMIM:620428
Rapid-Onset Dystonia-Parkinsonism	Bradykinesia, Torticollis, Resting tremor, Cerebellar atrophy, Craniofacial dystonia, Limb dyston...	ORPHA:71517
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Cerebellar atrophy, Kyphosis, Synophrys, Unsteady gait, Ataxia	OMIM:300861
Mucopolysaccharidosis, Type Ivb	Genu valgum, Platyspondyly, Scoliosis, Hyperlordosis, Osteoporosis, Kyphosis, Joint stiffness, Hy...	OMIM:253010
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hyperlordosis, Cerebellar atrophy, Kyphosis, Ataxia, Anteverted nares, Scoliosis, Short stature, ...	OMIM:618443
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Gowers sign, Chorea, Hyperlordosis, Cere...	OMIM:615356
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebral atrophy, Scoliosis, Cerebellar atrophy, Glossoptosis, Limb dystonia, Short stature, Lumb...	OMIM:620269
Folinic Acid-Responsive Seizures	Frontotemporal cerebral atrophy, Optic atrophy, Hypertonia, Difficulty walking, Broad-based gait,...	ORPHA:79097
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Flared metaphysis, Metaphyseal cupping, Hypocalcemia, Hypophosphatemia, Bowing of the...	OMIM:619073
Geroderma Osteodysplasticum	Osteopenia, Kyphoscoliosis, Beaking of vertebral bodies, Vertebral compression fracture, Hyperext...	OMIM:231070
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Unilateral renal agenesis, Testicular seminoma, Hypogonadism, Abnormal stomach mo...	ORPHA:281090
Progressive Myoclonic Epilepsy Type 3	Cerebral atrophy, Optic atrophy, Progressive cerebellar ataxia, Progressive psychomotor deteriora...	ORPHA:263516
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Peroneal muscle weakness, Progressive muscle weakness, Gowers sign, Hyperlordosis, Frequent falls...	OMIM:611588
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Cerebral hypomyelination, Cerebellar vermis atrophy, Dysdiadochokinesis, Tremor, C...	OMIM:614381
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Recurrent pharyngitis, Hematuria, Renal insufficiency, Peric...	ORPHA:549
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal femur morphology, Anemia, Abnormal form of the vertebral bo...	ORPHA:464329
Occipital Horn Syndrome	Large iliac wing, Absent tibia, Kyphosis, Aplasia/hypoplasia of the humerus, Joint hypermobility,...	ORPHA:198
Kerion Celsi	Lymphadenopathy	ORPHA:499
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Postnatal growth retardation, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic tra...	ORPHA:79240
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Limb dystonia, Lower limb hypertonia, Opisthotonus, Clumsiness, Tip-toe gait,...	OMIM:617013
Coats Disease	Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract	ORPHA:190
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis	ORPHA:529665
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Kyphoscoliosis, Hyperhomocystinemia, Scoliosis, Limitation of joint mobility, Osteoporosis, Gener...	OMIM:236200
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Short stature, Rigidit...	OMIM:612438
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Difficulty walking, Inability to walk, Astrocytosis, Nephrocalcinosis, Wide nasal bridge	OMIM:611087
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Pontocerebellar atrophy, Inability to walk, Recurrent lower respiratory tract infections, Myositi...	ORPHA:258
Insulin-Resistance Syndrome Type B	Abnormal salivary gland morphology, Biliary cirrhosis, Enlarged polycystic ovaries, Glycosuria, N...	ORPHA:2298
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Herpes simplex encephalitis, Confusion, Hemiparesis, Meningitis, Mental deterioration	OMIM:617900
Intermediate Osteopetrosis	Anemia, Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent f...	ORPHA:210110
Poliomyelitis	Fatigable weakness of respiratory muscles, Hyperkinetic movements, Inability to walk, Myelitis, M...	ORPHA:2912
Kaya-Barakat-Masson Syndrome	Cerebral atrophy, Scoliosis, Spasticity, Cerebellar atrophy, Limb dystonia, Spastic tetraplegia, ...	OMIM:619125
Pai Syndrome	Midline defect of the nose, Nasal polyposis, Abnormal oral frenulum morphology, Bifid uvula, Clef...	ORPHA:1993
Hereditary Methemoglobinemia	Global brain atrophy, Hypertonia, Frontal cortical atrophy, Spasticity, Athetosis, Cerebellar atr...	ORPHA:621
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Hypophos...	OMIM:300009
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Abnormal pelvic girdle bone morphology, Thickened cortex...	OMIM:607634
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Acroosteolysi...	ORPHA:90154
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormal metaphysis morphology, Platyspondyly, Flat capital femoral epiphysis, Broad ...	ORPHA:157965
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Broad-based gait, Cerebellar atrophy, Progressive external ophthalmoplegia, Ptosis, Ataxia, Neck ...	OMIM:618098
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Hyperostosis frontalis interna, Osteoporosis, Osteoarthritis, Hypercholesterolemia	ORPHA:77296
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Difficulty walking, Distal sensory impairment, Inability to walk, Bulbar palsy, Pe...	ORPHA:254930
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Cervical C2/C3 vertebral fusion, Hammertoe, Squared iliac bones, Shoulder dislocation...	OMIM:618000
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Gonadal dysgenesis, Impaired distal vibration sensation, Hypergonadotropic hypogonadism, Decrease...	OMIM:607080
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Abnormal renal corticomedullary differentiation, Muscle weakness, I...	OMIM:616733
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebral atrophy, Optic atrophy, Tetraplegia, Cerebellar atrophy, Dystonia, Abnormal pyramidal si...	OMIM:300475
Christianson Syndrome	Abnormality of the nose, Neuronal loss in central nervous system, Truncal ataxia, Cerebellar atro...	ORPHA:85278
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Scoliosi...	ORPHA:2169
Neurodegeneration With Brain Iron Accumulation 2A	Cerebral atrophy, Optic atrophy, Short nose, Generalized muscle weakness, Neuronal loss in centra...	OMIM:256600
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebral atrophy, Tetraparesis, Brain atrophy, Scoliosis, Cerebellar atrophy, Synophrys, Biconcav...	OMIM:619260
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Anemia, Abnormal form of the vertebral bodies, Bone cyst, Narrow iliac wing, Scoliosis, Calcifica...	ORPHA:3042
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Limitation of joint mobil...	ORPHA:90153
Pseudohypoparathyroidism, Type Ia	Short finger, Short metatarsal, Short metacarpal, Subcutaneous ossification, Osteoporosis, Short ...	OMIM:103580
Mucolipidosis Iv	Dysplastic corpus callosum, Optic atrophy, Babinski sign, Cerebral dysmyelination, Cerebellar atr...	OMIM:252650
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Global brain atrophy, Distal lower limb muscle weakness, Steppage gait, Spastic dysarthria, Impai...	ORPHA:94124
Nephronophthisis 15	Retinal degeneration, Obesity	OMIM:614845
Liang-Wang Syndrome	Cerebral atrophy, Cerebellar atrophy, Synophrys, Downslanted palpebral fissures, Dystonia, Ataxia...	OMIM:618729
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hepatocellular adenoma, Elevated circulating hepatic transaminase concentration,...	ORPHA:264580
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Progressive muscle weakness, Scoliosis, Short stature, Loss of a...	OMIM:619518
Intellectual Developmental Disorder, Autosomal Recessive 68	Broad eyebrow, Cerebellar atrophy, Synophrys, Muscle weakness, Narrow palpebral fissure, Wide nas...	OMIM:618302
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Rhyns Syndrome	Osteopenia, Short long bone, Osteoporosis, Short femoral neck, Radial bowing, Brachydactyly	OMIM:602152
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Beta-Propeller Protein-Associated Neurodegeneration	Cerebral atrophy, Optic atrophy, Bradykinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Pa...	ORPHA:329284
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Narrow foramen obturatorium, Flexion contracture, Osteolysis	ORPHA:220393
Neuropathy, Hereditary Sensory, Type Ie	Cerebral atrophy, Memory impairment, Distal muscle weakness, Ataxia, Decreased number of peripher...	OMIM:614116
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Diaphragmatic weakness, Urinary incontinence, Axonal degeneration, Diaphragmatic paralysis, Limb ...	OMIM:604320
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Infantile Cerebellar-Retinal Degeneration	Optic atrophy, Demyelinating peripheral neuropathy, Athetosis, Cerebellar atrophy, Cerebral corti...	OMIM:614559
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, High palate, Ascites, Nephrotic syndrome, Splenomegaly, Car...	OMIM:269920
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Cataract, I...	ORPHA:1473
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Sandhoff Disease	Hepatomegaly, Progressive psychomotor deterioration, Kyphosis, Ataxia, Splenomegaly, Muscle weakn...	ORPHA:796
Neurodevelopmental Disorder With Dystonia And Seizures	Chorea, Athetosis, Cerebellar atrophy, Cerebral cortical atrophy, Dystonia, Spastic tetraplegia, ...	OMIM:619922
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Tip-toe gait, Babinski sign, Steppage gait, Distal lower limb muscle weakness, Lower limb spastic...	OMIM:615290
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Optic atrophy, Deviated nasal septum, Inability to walk, Scoliosis, Spasticity, Cerebellar atroph...	OMIM:619576
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Colon canc...	ORPHA:97290
Isolated Atp Synthase Deficiency	Optic atrophy, 3-Methylglutaconic aciduria, Hepatomegaly, Tetraplegia, Cerebellar atrophy, Cerebr...	ORPHA:254913
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Colon canc...	ORPHA:319487
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Steppage gait, Distal sensory impairment, Focal segmental glomerulosclerosis, Distal muscle weakn...	OMIM:614455
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Osteoporosis	OMIM:601979
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Scoliosis, Kyphosis, Osteoporosis, Joint contracture	OMIM:615381
Succinic Semialdehyde Dehydrogenase Deficiency	Decreased tissue succinic semialdehyde dehydrogenase activity, Elevated urinary 4-hydroxybutyric ...	OMIM:271980
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Bowing of the long bones, Osteomyelitis, Increased sus...	OMIM:166260
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Optic atrophy, Narrow palate, Inability to walk, Scoliosis, Cerebellar atrophy, Spastic tetrapare...	OMIM:617481
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardiomegaly	ORPHA:858
Finnish Upper Limb-Onset Distal Myopathy	Steppage gait, Difficulty walking, Distal sensory impairment, Progressive proximal muscle weaknes...	ORPHA:399086
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Spinocerebellar Ataxia 21	Limb ataxia, Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor functio...	OMIM:607454
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Bifid uvula, High palate, Median cleft upper lip	OMIM:155145
Cone-Rod Dystrophy 24	Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse...	OMIM:620342
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia, Unsteady gait	ORPHA:284271
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Abnormal circulating enzyme concentration or activity, Poor fine motor coordina...	ORPHA:79264
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Oste...	ORPHA:398063
Osteogenesis Imperfecta, Type Xix	Osteopenia, Vertebral wedging, Scoliosis, Multiple prenatal fractures, Biconcave vertebral bodies...	OMIM:301014
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Prune1-Related Neurological Syndrome	Cerebral atrophy, Optic atrophy, Inability to walk, Tongue fasciculations, Scoliosis, Cerebellar ...	ORPHA:544469
Combined Oxidative Phosphorylation Deficiency 32	Kyphoscoliosis, Optic atrophy, Inability to walk, Spasticity, Tremor, Cerebellar atrophy, Ptosis,...	OMIM:617664
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Hyposmia, Confusion, Facial palsy, Abnormal medulla oblongata morphology,...	ORPHA:68
Spinocerebellar Ataxia Type 40	Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Uns...	ORPHA:423275
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebral atrophy, Poor head control, Difficulty walking, Limb hypertonia, Abnormal circulating en...	ORPHA:572798
Spastic Paraplegia 50, Autosomal Recessive	Babinski sign, Limb hypertonia, Gliosis, Cerebellar atrophy, Cerebral palsy, High palate, Ataxia,...	OMIM:612936
Leukodystrophy, Hypomyelinating, 11	Spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus, CNS hypomyelination, Leukodystrophy	OMIM:616494
Achromatopsia	Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ...	ORPHA:49382
Neurofibroma	Abnormal biliary tract morphology, Multiple intestinal neurofibromatosis, Abnormal cranial nerve ...	ORPHA:252183
Amyotrophic Lateral Sclerosis 4, Juvenile	Babinski sign, Difficulty walking, Axonal degeneration, Atrophy of the spinal cord, Diffuse axona...	OMIM:602433
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling	OMIM:600977
Mepan Syndrome	Cerebral atrophy, Optic atrophy, Axial dystonia, Chorea, Spasticity, Cerebellar atrophy, Craniofa...	ORPHA:508093
Autosomal Dominant Optic Atrophy, Classic Form	Optic atrophy, Temporal optic disc pallor, Atrophy/Degeneration affecting the brainstem, Spastici...	ORPHA:98673
Dystonia 1, Torsion, Autosomal Dominant	Babinski sign, Hypertonia, Oromandibular dystonia, Inability to walk, Writer's cramp, Torticollis...	OMIM:128100
Leukodystrophy, Hypomyelinating, 20	Babinski sign, Hypertonia, Torticollis, Scoliosis, Cerebellar atrophy, Ptosis, Dystonia, Spastic ...	OMIM:619071
Short Stature, Brussels Type	Calcification of cartilage, Delayed epiphyseal ossification	ORPHA:2867
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Ankylosis, Osteolysis	ORPHA:659
Leukodystrophy, Hypomyelinating, 5	Babinski sign, Truncal titubation, Scoliosis, Intention tremor, Abnormal cerebellum morphology, L...	OMIM:610532
Cofs Syndrome	Optic atrophy, Hypertonia, Cerebral cortical atrophy, Short stature, Abnormal nasal morphology, H...	ORPHA:1466
Jaberi-Elahi Syndrome	Optic atrophy, Short nose, Inability to walk, Broad-based gait, Appendicular spasticity, Dandy-Wa...	OMIM:617988
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebral atrophy, Inability to walk, Chorea, Spasticity, Cerebellar atrophy, Gait ataxia, Dystoni...	OMIM:618917
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Delayed puberty, Hypospadias, Cerebellar vermis atrophy, Tremor, Kyphosis, Gait ataxia, Decreased...	OMIM:300354
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract	OMIM:614292
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebral atrophy, Optic atrophy, Hypertonia, Limb hypertonia, Athetosis, Cerebellar atrophy, Trem...	OMIM:617710
Machado-Joseph Disease Type 1	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Memory impairment, D...	ORPHA:276238
Machado-Joseph Disease Type 2	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Memory impairment, D...	ORPHA:276241
Cleidocranial Dysplasia	Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal metacarpal morph...	ORPHA:1452
Tangier Disease	Ectropion, Hepatomegaly, Impaired temperature sensation, Impaired pain sensation, Peripheral axon...	OMIM:205400
Brachyolmia Type 1, Toledo Type	Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo...	OMIM:271630
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Gowers sign, Chorea, Ataxia, Splenomegal...	OMIM:615673
Senior-Loken Syndrome	Nephronophthisis, Abnormality of retinal pigmentation, Chronic kidney disease, Cataract, Stage 5 ...	ORPHA:3156
Gm1-Gangliosidosis, Type Ii	Beaking of vertebral bodies, Sea-blue histiocytosis, Platyspondyly, Scoliosis, Joint stiffness, T...	OMIM:230600
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Positive Romberg sign, Demyelinating peripheral neuropathy, Cerebellar atr...	ORPHA:99949
Spondylo-Ocular Syndrome	Joint hypermobility, Thoracic kyphosis, Platyspondyly, Osteoporosis	ORPHA:85194
Spinocerebellar Ataxia 34	Limb ataxia, Fasciculations, Peripheral axonal neuropathy, Dysdiadochokinesis, Spasticity, Cerebe...	OMIM:133190
Perlman Syndrome	Short nose, High, narrow palate, Hepatomegaly, Abnormal pancreas morphology, Hypoplasia of penis,...	ORPHA:2849
Aceruloplasminemia	Limb ataxia, Akinesia, Torticollis, Abnormal pancreas morphology, Abnormal circulating enzyme con...	ORPHA:48818
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina	OMIM:613801
Developmental And Epileptic Encephalopathy 98	Cerebral atrophy, Attention deficit hyperactivity disorder, Cerebellar atrophy	OMIM:619605
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Sclerotic vertebral endplates, Rickets of the lower l...	ORPHA:289176
Lethal Congenital Contracture Syndrome 8	Peripheral hypomyelination, Distal sensory impairment, Facial diplegia, Vocal cord paralysis, Neo...	OMIM:616287
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor functio...	OMIM:614298
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Cerebellar atrophy, Glossoptosis, Lateral ventricle dilatation, Intrauterine grow...	OMIM:611209
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Subperiosteal bone resorption, Hypocalcemic seizures, Delayed epiphyseal ossification, H...	ORPHA:289157
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Cerebral atrophy, Difficulty walking, Hyperkinetic movements, Truncal ataxia, Scoliosis, Progress...	ORPHA:369847
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Action tremor, Rigidity, Splenomegaly, M...	ORPHA:309854
Takenouchi-Kosaki Syndrome	Highly arched eyebrow, Cerebellar atrophy, Ataxia, Optic atrophy, Hypospadias, Scoliosis, Downsla...	OMIM:616737
Supranuclear Palsy, Progressive, 1	Cerebral atrophy, Bradykinesia, Senile plaques, Akinesia, Gait imbalance, Falls, Axial dystonia, ...	OMIM:601104
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism	ORPHA:393
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Peripheral hypomyelination, Abnormal cranial nerve morphology, Upper limb muscle weakness, Distal...	OMIM:605253
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
L-2-Hydroxyglutaric Aciduria	Optic atrophy, Global brain atrophy, Abnormality of extrapyramidal motor function, Gliosis, Cereb...	OMIM:236792
Warburg Micro Syndrome 4	Optic atrophy, Babinski sign, Inability to walk, Small scrotum, Severe postnatal growth retardati...	OMIM:615663
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Ruijs-Aalfs Syndrome	Thoracic kyphoscoliosis, Elbow flexion contracture, Osteoporosis, Clinodactyly, Down-sloping shou...	OMIM:616200
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Progressive cerebellar ataxia, Truncal ataxia, Dysdiadochokinesis, Spasticity, Cerebellar atrophy...	ORPHA:352403
Combined Oxidative Phosphorylation Deficiency 58	Optic atrophy, Difficulty walking, Appendicular spasticity, Lacticaciduria, Low insertion of colu...	OMIM:620451
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Kyphoscoliosis, Localized osteoporosis, Cervical spondylosis	ORPHA:199354
Brown-Vialetto-Van Laere Syndrome 1	External ophthalmoplegia, Tongue fasciculations, Knee clonus, Kyphosis, Ataxia, Clumsiness, Neck ...	OMIM:211530
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis	OMIM:122860
Distal Myotilinopathy	Progressive proximal muscle weakness, Loss of ability to walk in first decade, Difficulty walking...	ORPHA:98911
Gm1-Gangliosidosis, Type Iii	Anterior beaking of lumbar vertebrae, Hepatomegaly, Scoliosis, Myoclonus, Kyphosis, Short stature...	OMIM:230650
Lethal Congenital Contracture Syndrome 7	Cerebral atrophy, Facial diplegia, Cerebellar atrophy, Paralysis	OMIM:616286
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebral atrophy, External ophthalmoplegia, Global brain atrophy, Babinski sign, Atrophy/Degenera...	OMIM:615838
Lipoid Proteinosis	Thick lower lip vermilion, High palate, Nasal polyposis, Abnormality of the gingiva, Abnormal ora...	ORPHA:530
Leigh Syndrome	3-Methylglutaconic aciduria, Generalized aminoaciduria, Chorea, Cerebellar atrophy, Distal muscle...	ORPHA:506
Spinocerebellar Ataxia 32	Azoospermia, Infertility, Cerebellar atrophy, Cognitive impairment, Ataxia, Testicular atrophy	OMIM:613909
19P13.3 Microduplication Syndrome	Kyphoscoliosis, Hip subluxation, Osteoporosis, Long fingers, Hip dysplasia, Clinodactyly, Hip dis...	ORPHA:447980
Immunodeficiency 12	Absent isohemagglutinin level, Complete or near-complete absence of specific antibody response to...	OMIM:615468
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Co...	OMIM:613101
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Bietti Crystalline Dystrophy	Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc...	ORPHA:41751
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Recurrent infections, Facial palsy, Cerebellar atrophy, Kyphosis, Progressive ex...	OMIM:615084
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Oligodontia, Scoliosis, Everted lower lip vermilion, Kyphosis, Short stature, Obesity, Anodontia	ORPHA:276630
Srd5A3-Cdg	Optic atrophy, Decreased response to growth hormone stimulation test, Elevated circulating hepati...	ORPHA:324737
Pseudohypoparathyroidism, Type Ic	Short metatarsal, Hypocalcemia, Short metacarpal, Osteoporosis, Hypocalcemic tetany, Brachydactyl...	OMIM:612462
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Elevated urine N-acetylaspartic acid level, Cerebellar atrophy, Increased urine alpha-ketoglutara...	OMIM:618384
Combined Oxidative Phosphorylation Deficiency 29	Optic atrophy, Global brain atrophy, Axonal degeneration, Spasticity, Cerebellar atrophy, Optic n...	OMIM:616811
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Focal Cortical Dysplasia, Type Ii	Hemiparesis, Astrocytosis, Cognitive impairment	OMIM:607341
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Autism Spectrum Disorder Due To Auts2 Deficiency	Bilateral ptosis, Short palpebral fissure, Hypertonia, Highly arched eyebrow, Anteverted nares, S...	ORPHA:352490
Listeriosis	Pericarditis, Pustule, Ataxia, Unusual CNS infection, Myoclonus, Cholecystitis, Myocarditis, Acut...	ORPHA:533
Spinocerebellar Ataxia 13	Limb ataxia, Optic atrophy, Progressive cerebellar ataxia, Spasticity, Cerebellar atrophy, Impair...	OMIM:605259
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Kniest Dysplasia	Tracheomalacia, Delayed epiphyseal ossification, Splayed epiphyses, Flared metaphysis, Tibial bow...	OMIM:156550
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Dystonia, Peripheral demyelination	OMIM:250850
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cerebral atrophy, Highly arched eyebrow, Anteverted nares, Spasticity, Cerebellar atrophy, Synoph...	OMIM:619286
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Thrombocytopenia 6	Thrombocytopenia, Myelofibrosis, Osteoporosis	OMIM:616937
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Gait ataxia, Short stature, Absent pubertal growth spurt, Neurodegeneration	ORPHA:438134
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Severe Epstein Barr virus infection, Recurrent pharyngitis, Fulminant hepatitis, Sp...	OMIM:308240
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Pontocerebellar atrophy, Impaired proprioception, Chronic axonal neuropathy, Oculomo...	OMIM:606002
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Gastric vari...	ORPHA:64743
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Babinski sign, Hypertonia, Hepatomegaly, Elevated circulating hepatic transaminase...	OMIM:264470
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Secondary amenorrhea, Hyperlordosis, Cerebellar atrophy, Kyphosis, Hypergonadotropic hypogonadism...	ORPHA:3085
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Rhizomelic Chondrodysplasia Punctata, Type 1	Kyphoscoliosis, Severe failure to thrive, Rhizomelia, Epiphyseal stippling, Calcific stippling of...	OMIM:215100
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Spinocerebellar Ataxia Type 32	Male infertility, Progressive cerebellar ataxia, Azoospermia, Cerebellar atrophy, Cognitive impai...	ORPHA:276183
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Abnormal intestine morph...	ORPHA:397596
Whipple Disease	Myocarditis, Hepatomegaly, Erectile dysfunction, Myositis, Arthritis, Myoclonus, Pericarditis, At...	ORPHA:3452
Spinocerebellar Ataxia 36	Limb ataxia, Babinski sign, Hypertonia, Fasciculations, Truncal ataxia, Tongue fasciculations, In...	OMIM:614153
Lyme Disease	Paresthesia, Memory impairment, Arthritis, Muscle weakness, Meningitis, Infectious encephalitis, ...	ORPHA:91546
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Kyphoscoliosis, Distal sensory impairment, Distal muscle weakness, Axonal regeneration, Decreased...	OMIM:607831
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Abnormal cortical bone morphology, Clinodactyly of the 5th finge...	ORPHA:2769
3Q13 Microdeletion Syndrome	Hypoplasia of penis, Anteverted nares, Epicanthus, Agenesis of corpus callosum, Short neck, Crypt...	ORPHA:1621
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Polycystic ovaries, Hypergonadotropic hypogonadism	ORPHA:2229
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebral atrophy, Scoliosis, Cerebellar atrophy, Kyphosis, Long palpebral fissure, Hydronephrosis...	OMIM:619797
Alport Syndrome 2, Autosomal Recessive	Hematuria, Corneal erosion, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis...	OMIM:203780
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy...	OMIM:263200
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:619007
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebral atrophy, Poor head control, Global brain atrophy, Short nose, Recurrent lower respirator...	OMIM:617802
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Babinski sign, Positive Romberg sign, Dysdiadochokinesis, Cerebellar atrophy, Myoclonus, Gait dis...	OMIM:301310
Combined Oxidative Phosphorylation Deficiency 24	Optic atrophy, Neuronal loss in central nervous system, Gliosis, Spasticity, Cerebellar atrophy, ...	OMIM:616239
Peroxisome Biogenesis Disorder 5B	Decreased liver function, Oculomotor apraxia, Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, ...	OMIM:614867
Nipah Virus Disease	Tremor, Recurrent pharyngitis, Infectious encephalitis, Myoclonus	ORPHA:99825
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hyperbilirubinemia, Wide anterior fontanel, Abnormal cortical bone morphology, Elevated circulati...	OMIM:614886
Multifocal Motor Neuropathy	Fasciculations, Progressive distal muscle weakness, Progressive muscle weakness, Limb muscle weak...	ORPHA:641
Spinocerebellar Ataxia Type 18	Peripheral axonal neuropathy, Cerebellar atrophy, Titubation, Gait ataxia, Head tremor, Muscle we...	ORPHA:98771
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Progressive proximal muscle weakness, Progressive external ophthalmoplegia, Axial muscle weakness...	ORPHA:663
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Bone-marrow foam cells, Osteoporosis, Splenomegaly, Microcytic anemia	OMIM:257200
Macular Degeneration, Age-Related, 1	Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ...	OMIM:603075
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Optic atrophy, Brain atrophy, Tetraplegia, Cerebellar atrophy, Corpus callosum atrophy, Cerebral ...	ORPHA:369939
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebral atrophy, Elevated circulating hepatic transaminase concentration, Hypospadias, Renal tub...	OMIM:615471
Portal Hypertension, Noncirrhotic, 1	Esophageal varix, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Poor head control, Short nose, Inability to walk, Oculomotor apraxia, Limb hypertonia, Cerebellar...	OMIM:618087
Galloway-Mowat Syndrome 6	Decreased response to growth hormone stimulation test, Cerebellar vermis atrophy, Anteverted nare...	OMIM:618347
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Hypocholesterolemia, Osteoporosis	OMIM:266510
Peho Syndrome	Optic atrophy, Short nose, Neuronal loss in central nervous system, Cerebellar atrophy, Periphera...	OMIM:260565
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Fibular bowing, Platyspondyly, Vertebral compression fracture, Scoliosis...	OMIM:613848
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebral atrophy, Poor head control, Cerebellar atrophy, Short stature, Prominent nasal bridge, M...	OMIM:619060
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Short nose, Anteverted nares, Spastic tetraparesis, Cerebellar atrophy, Epicanthus	OMIM:618506
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Ascites, Testicul...	OMIM:235200
Al Amyloidosis	Abnormal salivary gland morphology, Hepatomegaly, Increased circulating NT-proBNP concentration, ...	ORPHA:85443
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal pyramidal sign, Leukodystrophy, Peripheral demyelination	DECIPHER:59
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Chronic otitis media, Cerebellar atrophy, Kyphosis, Ataxia, Intrauterine growth retardation, Naso...	OMIM:300966
Diamond-Blackfan Anemia 7	Osteopenia, Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Scoliosis,...	OMIM:612562
Sapho Syndrome	Hyperostosis, Arthritis, Abnormal sacroiliac joint morphology, Synovitis, Enthesitis, Osteolysis,...	ORPHA:793
Boucher-Neuhauser Syndrome	Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Spasticity, Cerebellar atrophy, ...	OMIM:215470
Bethlem Muscular Dystrophy	Spinal rigidity, Difficulty walking, Neck muscle weakness, Gowers sign, Scoliosis, Progressive pr...	ORPHA:610
Spinocerebellar Ataxia 47	Cerebellar vermis atrophy, Chorea, Spasticity, High palate, Short stature, Ptosis, Ataxia, Wide n...	OMIM:617931
Spinocerebellar Ataxia Type 19/22	Limb ataxia, Difficulty walking, Impaired vibration sensation at ankles, Urinary incontinence, Br...	ORPHA:98772
Dpm1-Cdg	Cerebral atrophy, Optic atrophy, Pontocerebellar atrophy, Hepatomegaly, Elevated circulating hepa...	ORPHA:79322
Incontinentia Pigmenti	Spina bifida occulta, Skin rash, Scoliosis, Spasticity, Gait disturbance, Cognitive impairment, C...	ORPHA:464
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Gait disturbance, Ataxia, Unsteady gait, Splenomegaly, Recurrent respiratory ...	ORPHA:2585
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Recurrent infections, Cerebellar atrophy, Nephrolithiasis, Kyphosis, Progressive...	ORPHA:352447
Adams-Oliver Syndrome 6	Esophageal varix, Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepati...	OMIM:616589
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal degeneration, Cryptorchidism, Cone/cone-rod dystrophy	OMIM:249270
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal obstruction, Gastrointestinal hemorrhage, Decreased glomerular filtration rate, Tubulo...	ORPHA:85450
Bestrophinopathy, Autosomal Recessive	Retinal flecks, Retinal pigment epithelial atrophy	OMIM:611809
Rudiger Syndrome	Ureterovesical stenosis, Micropenis, Bicornuate uterus, Ovarian cyst	OMIM:268650
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertonia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Skin...	OMIM:603553
Ataxia-Pancytopenia Syndrome	Babinski sign, Distal sensory impairment, Impaired vibration sensation in the lower limbs, Cerebe...	OMIM:159550
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Reduced bone mineral density, Splenomegaly	ORPHA:172
Cockayne Syndrome A	Cerebellar atrophy, Kyphosis, Ataxia, Peripheral dysmyelination, Splenomegaly, Hypogonadism, Intr...	OMIM:216400
Pfapa Syndrome	Hepatomegaly, Recurrent pharyngitis, Arthritis, Splenomegaly, Infectious encephalitis	ORPHA:42642
Propionic Acidemia	Anemia, Pancytopenia, Osteoporosis, Hyperammonemia, Thrombocytopenia, Hyperglycinemia, Neutropenia	OMIM:606054
Mevalonic Aciduria	Cerebral atrophy, Morbilliform rash, Kyphoscoliosis, Fluctuating splenomegaly, Progressive cerebe...	OMIM:610377
X-Linked Intellectual Disability, Stocco Dos Santos Type	Short stature, Small for gestational age, Kyphosis	ORPHA:85288
Retinitis Pigmentosa 38	Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor	OMIM:613862
Lipoyltransferase 1 Deficiency	Decreased liver function, Elevated circulating hepatic transaminase concentration, Abnormality of...	OMIM:616299
Chromomycosis	Ankylosis, Osteolysis	ORPHA:182
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Colitis	ORPHA:88643
Macular Dystrophy, Vitelliform, 3	Macular dystrophy, Drusen, Choroidal neovascularization, Vitelliform-like macular lesions, Macula...	OMIM:608161
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Spinocerebellar Ataxia 29	Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi...	OMIM:117360
Adenylosuccinase Deficiency	Cerebral atrophy, Elevated urinary succinylaminoimidazole carboxamide riboside level, Short nose,...	OMIM:103050
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Cholangitis, Recurrent lower respiratory tract infections, Recurrent urinary tra...	OMIM:209920
Porphyria, Congenital Erythropoietic	Osteopenia, Vertebral compression fracture, Elevated circulating uroporphyrin concentration, Thro...	OMIM:263700
Neurocutaneous Melanocytosis	Dandy-Walker malformation, Hemiparesis, Chiari malformation, Aplasia/Hypoplasia of the cerebellum...	ORPHA:2481
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Inability to walk, High palate, Cerebellar atrophy, Gait ataxia, Ataxia	OMIM:617915
Familial Isolated Hyperparathyroidism	Osteopenia, Generalized osteoporosis, Hypercalcemia, Hypophosphatemia	ORPHA:99879
Stickler Syndrome Type 2	Retinal detachment, Corneal opacity, Cataract	ORPHA:90654
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Hematuria, Iris coloboma	OMIM:120433
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Developmental And Epileptic Encephalopathy 51	Poor head control, Babinski sign, Inability to walk, Cerebellar atrophy, Corpus callosum atrophy,...	OMIM:617339
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Inability to walk, Cerebellar vermis atrophy, Chorea, Gait ataxia, Ataxia, Dysmetria	OMIM:618501
Beta-Thalassemia Intermedia	Osteopenia, Reduced bone mineral density, Abnormality of iron homeostasis, Anemia of inadequate p...	ORPHA:231222
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Amish Nemaline Myopathy	Respiratory insufficiency due to muscle weakness, Progressive muscle weakness, Tremor	ORPHA:98902
Retinitis Pigmentosa 9	Cataract, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:180104
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Splenomegaly, Hypogonadism, Hepatic fibrosis	OMIM:613313
Chromosome 2P16.1-P15 Deletion Syndrome	Kyphoscoliosis, Optic nerve hypoplasia, Hypogonadism, Intrauterine growth retardation, Hypoplasia...	OMIM:612513
Rafiq Syndrome	Underdeveloped nasolabial fold, Broad eyebrow, Wide nose, Highly arched eyebrow, Long eyebrows, S...	OMIM:614202
Pontocerebellar Hypoplasia, Type 1B	Cerebral atrophy, Poor head control, Cerebellar cyst, Oculomotor apraxia, Tongue fasciculations, ...	OMIM:614678
Intellectual Developmental Disorder, Autosomal Dominant 26	Short palpebral fissure, Hypertonia, Highly arched eyebrow, Anteverted nares, Scoliosis, Prominen...	OMIM:615834
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Combined Oxidative Phosphorylation Defect Type 29	Global brain atrophy, Axonal degeneration, Optic neuropathy, Myoclonic spasms, Delayed myelinatio...	ORPHA:478029
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration	OMIM:193230
Combined Oxidative Phosphorylation Deficiency 49	Difficulty walking, Progressive muscle weakness	OMIM:619024
Coxoauricular Syndrome	Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ...	ORPHA:1508
Cantú Syndrome	Abnormal metaphysis morphology, Platyspondyly, Short hallux, Finger syndactyly, Cuboid-shaped ver...	ORPHA:1517
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Ovarian Dysgenesis 8	Osteoporosis	OMIM:618187
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Distal Nebulin Myopathy	Progressive proximal muscle weakness, High palate, Progressive distal muscle weakness, Foot dorsi...	ORPHA:399103
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Scoliosis, Femoral bowing, Recurrent fractures, Increased susceptibility to fractures	OMIM:615066
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract, Aminoaciduria	ORPHA:2278
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Ascites, Enlarged polycystic ovaries, Ovarian cyst, Increased circulati...	ORPHA:64739
Spinocerebellar Ataxia 10	Limb ataxia, Babinski sign, Limb fasciculations, Bradykinesia, Progressive cerebellar ataxia, Dis...	OMIM:603516
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Developmental And Epileptic Encephalopathy 67	Athetosis, Cerebellar atrophy, Dystonia, Gait disturbance	OMIM:618141
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Spondyloepimetaphyseal Dysplasia, Shohat Type	Generalized bone demineralization, Short long bone, Hyperlordosis, Metaphyseal irregularity, Abno...	ORPHA:93352
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Renal tubular acidosis, Decreased activity of NADPH oxidase, Cerebellar atrophy, Or...	ORPHA:431361
Hsd10 Mitochondrial Disease	Optic atrophy, Retinal degeneration, Elevated circulating tiglylglycine concentration, Cerebral c...	OMIM:300438
Spinocerebellar Ataxia 27B, Late-Onset	Limb ataxia, Postural tremor, Cerebellar atrophy, Gait ataxia	OMIM:620174
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Tip-toe gait, Spinal rigidity, Lower limb spasticity, Gowers sign, Scoliosis, Hyperlordosis, Gait...	OMIM:617404
Alexander Disease Type I	Scoliosis, Spasticity, Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Palatal tremor	ORPHA:363717
Dk1-Cdg	Short stature, Elevated circulating hepatic transaminase concentration, Progressive muscle weakne...	ORPHA:91131
Estrogen Resistance Syndrome	Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p...	ORPHA:785
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Optic atrophy, Babinski sign, Urinary incontinence, Progressive cerebellar ataxia, Cerebellar atr...	OMIM:618868
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Splenic cyst, Abnormal peritoneum morphology, ...	ORPHA:400
Superficial Siderosis	Partial anosmia, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Anosmia, Cogni...	ORPHA:247245
Pontocerebellar Hypoplasia, Type 2E	Cerebral atrophy, Optic atrophy, Hypertonia, Short nose, Wide nose, Scoliosis, Spasticity, Cerebe...	OMIM:615851
Alg1-Cdg	Cerebral atrophy, Decreased liver function, Protein-losing enteropathy, Recurrent infections, Sco...	ORPHA:79327
Cognitive Impairment With Or Without Cerebellar Ataxia	Optic nerve hypoplasia, Cerebellar atrophy, Gait ataxia, Ataxia, Attention deficit hyperactivity ...	OMIM:614306
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Cereb...	OMIM:212065
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebral atrophy, Babinski sign, Atrophy/Degeneration affecting the brainstem, Demyelinating peri...	ORPHA:445062
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Developmental Delay With Or Without Epilepsy	Spastic gait, Spasticity, Cerebellar atrophy, Lower limb hypertonia, Ataxia, Attention deficit hy...	OMIM:620540
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ...	OMIM:608709
Spinocerebellar Ataxia, Autosomal Recessive 7	Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Clumsiness, Cerebellar atroph...	OMIM:609270
Xp21 Deletion Syndrome	Hypertriglyceridemia, Reduced bone mineral density, Elevated circulating creatine kinase concentr...	ORPHA:261476
Parkinsonism-Dystonia 3, Childhood-Onset	Global brain atrophy, Hypertonia, Hyperkinetic movements, Chorea, Tremor, Cerebellar atrophy, Act...	OMIM:619738
Oxoglutaric Aciduria	Short stature, Abnormal salivary gland morphology, Abnormality of Krebs cycle metabolism	ORPHA:31
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Decreased retinol-binding protein level, Peripheral retinal atrophy, Retina...	OMIM:615147
Retinitis Pigmentosa 84	Cataract, Macular coloboma, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:618220
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar scoliosis, Hip contracture, Seve...	OMIM:313420
Nasu-Hakola Disease	Acute leukemia, Reduced bone mineral density, Bone cyst, Limitation of joint mobility, Abnormal e...	ORPHA:2770
Stüve-Wiedemann Syndrome	Osteopenia, Abnormal metaphysis morphology, Genu valgum, Abnormal cortical bone morphology, Scoli...	ORPHA:3206
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Steppage gait, Abnormal female external genitalia morphology, Male hypogonadi...	ORPHA:168563
Bacterial Toxic-Shock Syndrome	Skin rash, Severe varicella zoster infection, Sinusitis, Myocarditis, Confusion, Severe viral inf...	ORPHA:36234
Bardet-Biedl Syndrome 17	Bone spicule pigmentation of the retina, Hyposmia, Anosmia, Cone/cone-rod dystrophy, Obesity, Hyp...	OMIM:615994
Peutz-Jeghers Syndrome	Rectal prolapse, Neoplasm of the pancreas, Oral melanotic macule, Precocious puberty with Sertoli...	OMIM:175200
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Difficulty walking, Sclerotic vertebral body, Chiari type I malformation, Dandy-Wa...	OMIM:618476
Hajdu-Cheney Syndrome	Osteopenia, Partial absence of toe, Scoliosis, Decreased skull ossification, Osteoporosis, Bowing...	ORPHA:955
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Short stature, Failure to thrive, Narrow mouth, Kyphosis	OMIM:620007
Familial Dysautonomia	Hyponatremia, Scoliosis, Recurrent fractures, Osteolysis	ORPHA:1764
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Kyphosis, Osteoporosis	OMIM:219080
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Aminoaciduria, Splenomegaly	ORPHA:664
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Cataract 10, Multiple Types	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Arachnodactyly, Liver abscess, Osteolysis	ORPHA:678
Immunoneurologic Disorder, X-Linked	Progressive proximal muscle weakness, Spastic paraplegia, Neonatal death, Functional abnormality ...	OMIM:300076
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Developmental And Epileptic Encephalopathy 95	Cerebral atrophy, Long nose, Hepatomegaly, Inability to walk, Highly arched eyebrow, Cerebellar v...	OMIM:618143
H Syndrome	Hypertriglyceridemia, Recurrent fractures, Camptodactyly, Hepatosplenomegaly, Hallux valgus, Hist...	ORPHA:168569
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bilateral ptosis, Highly arched eyebrow, Scoliosis, Cerebellar atrophy, Synophrys, Long eyelashes...	ORPHA:329224
Hartnup Disease	Glossitis, Skin rash, Short stature, Ataxia, Abnormal urinary color, Neutral hyperaminoaciduria, ...	ORPHA:2116
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Clinodactyly, Clinodactyly of the 5th finger, Neonatal hyperbilirubinemia, Osteoporosis	ORPHA:73272
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Cerebral atrophy, Abnormal vertebral morphology, Short stature, Agenesis of corpus callosum, Wide...	ORPHA:166024
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis	OMIM:610475
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Cerebral atrophy, Optic atrophy, Jaundice, Hemolytic-uremic syndrome, Memory impairment, Stomatit...	ORPHA:79282
Pontocerebellar Hypoplasia Type 10	Optic atrophy, Poor head control, Hypertonia, Highly arched eyebrow, Spasticity, Long eyelashes, ...	ORPHA:411493
Mixed Connective Tissue Disease	Arthritis, Joint stiffness, Leukopenia, Splenomegaly, Osteolysis, Hemolytic anemia	ORPHA:809
Neurodegeneration With Brain Iron Accumulation 5	Cerebral atrophy, Bradykinesia, Akinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkins...	OMIM:300894
Scrub Typhus	Myocarditis, Renal insufficiency, Skin rash, Tremor, Splenomegaly, Anterior uveitis, Meningitis, ...	ORPHA:83317
Macular Degeneration, Age-Related, 3	Macular degeneration, Decreased nerve conduction velocity, Drusen, Choroidal neovascularization	OMIM:608895
East Syndrome	Renal salt wasting, Peripheral hypomyelination, Difficulty walking, Inability to walk, Peripheral...	ORPHA:199343
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Developmental And Epileptic Encephalopathy 89	Cerebral atrophy, Hypertonia, Hyperkinetic movements, Clitoral hypertrophy, Highly arched eyebrow...	OMIM:619124
Peroxisome Biogenesis Disorder 11B	Progressive muscle weakness, Hepatosplenomegaly, Muscle weakness	OMIM:614885
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Classic Galactosemia	Reduced bone mineral density, Abnormal erythrocyte enzyme concentration or activity, Osteoporosis	ORPHA:79239
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short stature, Camptodactyly, Kyphosis	OMIM:618453
Cdkl5-Deficiency Disorder	Poor head control, Difficulty walking, Impaired pain sensation, Scoliosis, Kyphosis, Gait disturb...	ORPHA:505652
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Osteoporosis	OMIM:560000
Distal Myopathy With Anterior Tibial Onset	Limb-girdle muscle weakness, Progressive proximal muscle weakness, Tibialis muscle weakness	ORPHA:178400
Congenital Myopathy 22A, Classic	Scoliosis, Congenital finger flexion contractures, Osteoporosis, Kyphosis, Hip contracture, Achil...	OMIM:620351
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Delayed puberty, Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Decreased response to ...	OMIM:307200
Infantile Systemic Hyalinosis	Osteopenia, Osteoporosis, Joint stiffness, Camptodactyly of finger, Short palm, Brachydactyly, Os...	ORPHA:2176
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Pathologic ...	OMIM:601559
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Osteolytic defects of the phalanges of the hand, Arthritis, Clubbing, Limitation of j...	OMIM:259100
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Abnormal testis morphology, Obesity, Atte...	ORPHA:791
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Optic atrophy, Urinary incontinence, Fasciculations, Scoliosis, Tetraplegia, Cerebellar atrophy, ...	ORPHA:496641
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Dental crowding, Bi...	OMIM:209900
Spinocerebellar Ataxia Type 26	Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Pr...	ORPHA:101112
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal palate morphology, Reduced bone mineral density, Scoliosis, Vertebral segmentation defec...	ORPHA:2617
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebral atrophy, Optic atrophy, Long nose, Short nose, Telecanthus, Cerebellar vermis hypoplasia...	OMIM:618590
Arthrogryposis, Distal, Type 2A	Kyphoscoliosis, Short nose, Postnatal growth retardation, Spina bifida occulta, Telecanthus, Scol...	OMIM:193700
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Optic atrophy, 3-Methylglutaconic aciduria, Inability to walk, Recurrent infections, Brain atroph...	OMIM:614739
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop...	OMIM:613750
Borjeson-Forssman-Lehmann Syndrome	Delayed puberty, Cervical spinal canal stenosis, Hypoplasia of the prostate, Scoliosis, Kyphosis,...	OMIM:301900
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Limb ataxia, Impaired pain sensation, Cerebellar vermis atrophy, Positive Romberg sign, Cerebella...	OMIM:614575
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Hypertonia, Inability to walk, Tremor, Ataxia, Prominent nasal bridge, Delayed CNS myelination, A...	OMIM:619556
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Blepharophimosis-Impaired Intellectual Development Syndrome	Highly arched eyebrow, Narrow nasal ridge, Attention deficit hyperactivity disorder, Hypospadias,...	OMIM:619293
Zygomycosis	External ophthalmoplegia, Acute infectious pneumonia, Sinusitis, Pericarditis, Pustule, Epistaxis...	ORPHA:73263
Xp22.3 Microdeletion Syndrome	Ectopic anus, Hypogonadotropic hypogonadism, Polycystic ovaries	ORPHA:1643
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Reduced bone mineral density, Joint stiffness, Decreased circulating IgG level, Leukopenia, Splen...	OMIM:620210
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, In...	OMIM:618280
Polymicrogyria Due To Tubb2B Mutation	Oromotor apraxia, Cerebellar atrophy, Cognitive impairment, Hypoplasia of the pons, Hemiparesis, ...	ORPHA:300573
Myopathy, Myofibrillar, 4	Progressive proximal muscle weakness, Progressive muscle weakness, Progressive distal muscle weak...	OMIM:609452
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Hyp...	ORPHA:464321
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Episodic Ataxia Type 1	Tip-toe gait, Kyphoscoliosis, Hypertonia, Scoliosis, Cerebellar atrophy, Poor coordination, Clums...	ORPHA:37612
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Osteoporosis	OMIM:615830
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Scoliosis, Peripheral dysmyelination, Muscle weakness, Somatic sens...	ORPHA:101082
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebral atrophy, Tremor, Cerebellar atrophy, Titubation, Increased circulating lactate dehydroge...	OMIM:619405
Erdheim-Chester Disease	Abnormal metaphysis morphology, Anemia, Increased bone mineral density, Osteolysis, Abnormal epip...	ORPHA:35687
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cerebral cortical atrophy, Macular degeneration, Cryptorchidism, Choroidal neovascularization	ORPHA:404451
Congenital Disorder Of Glycosylation, Type Id	Cerebral atrophy, Optic atrophy, Hypertonia, Spastic tetraparesis, Cerebellar atrophy, High palat...	OMIM:601110
Mitochondrial Neurogastrointestinal Encephalomyopathy	External ophthalmoplegia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Mac...	ORPHA:298
Kikuchi-Fujimoto Disease	Hepatomegaly, Elevated circulating C-reactive protein concentration, Oral ulcer, Splenomegaly, We...	ORPHA:50918
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Scoliosis, Short metacarpal, Kyphosis, Osteoporosis	OMIM:617190
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Optic atrophy, Short nose, Hepatomegaly, Inability to walk, Telecanthus, Narrow nasal bridge, Cer...	OMIM:619383
Ataxia-Telangiectasia-Like Disorder 1	Oculomotor apraxia, Lower limb spasticity, Chorea, Dysdiadochokinesis, Cerebellar atrophy, Freque...	OMIM:604391
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Avian Influenza	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Myelitis, Meningiti...	ORPHA:454836
Pontocerebellar Hypoplasia, Type 7	Oculomotor apraxia, Tongue fasciculations, Spastic paraplegia, Ataxia, Opisthotonus, Myoclonus, O...	OMIM:614969
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Orofacial cleft, Hepatomegaly, Cholestasis, Hepatic fibrosis, Obesity, Splenomegaly, Retinal dege...	OMIM:615630
Osteogenesis Imperfecta, Type Ix	Disproportionate short-limb short stature, Scoliosis, Kyphosis, Decreased calvarial ossification,...	OMIM:259440
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Tremor, Progressive muscle weakness	OMIM:605355
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy, Hypog...	OMIM:602390
Neutral Lipid Storage Disease With Ichthyosis	Ectropion, Difficulty walking, Elevated circulating hepatic transaminase concentration, Hepatomeg...	ORPHA:98907
Spinocerebellar Ataxia Type 10	Babinski sign, Progressive cerebellar ataxia, Gait imbalance, Lower limb spasticity, Dysdiadochok...	ORPHA:98761
Spinocerebellar Ataxia Type 8	Limb ataxia, Bradykinesia, Urinary incontinence, Spastic dysarthria, Cerebellar vermis atrophy, S...	ORPHA:98760
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Congenital Disorder Of Glycosylation, Type Il	Cerebral atrophy, Short nose, Global brain atrophy, Hepatomegaly, Polycystic kidney dysplasia, Ce...	OMIM:608776
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Sandal gap, Enlarged metaphyses, Dislocated radial head, Generalized osteoporosis, Joint hypermob...	OMIM:245600
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Microphthalmia/Coloboma 12	Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla...	OMIM:120200
Spinocerebellar Ataxia Type 13	Limb ataxia, Optic atrophy, Bradykinesia, Difficulty walking, Urinary incontinence, Torticollis, ...	ORPHA:98768
Kniest Dysplasia	Fused cervical vertebrae, Platyspondyly, Enlarged metaphyses, Delayed epiphyseal ossification, Ve...	ORPHA:485
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Babinski sign, Distal sensory impairment, Demyelinating peripheral neuropathy, Spa...	OMIM:612674
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Cystic renal dysplasia	OMIM:613730
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination	OMIM:608236
Myopathy, Centronuclear, 2	Gowers sign, Scoliosis, Hyperlordosis, Waddling gait, Facial palsy, Kyphosis, Distal muscle weakn...	OMIM:255200
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Scoliosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 3rd fin...	OMIM:130060
Alpha-Mannosidosis, Infantile Form	Osteopenia, Cranial hyperostosis, Genu valgum, Platyspondyly, Pancytopenia, Bilateral coxa valga,...	ORPHA:309282
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia	ORPHA:100083
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Anal fissure, Crohn's disease, Acute pa...	OMIM:618935
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Limb ataxia, Optic atrophy, Babinski sign, 3-Methylglutaconic aciduria, Increased hepatic glycoge...	OMIM:619259
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Truncal obesity, Obesity, Attenuation of retinal blood v...	OMIM:615986
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Episodic Ataxia, Type 6	Truncal ataxia, Cerebellar atrophy, Episodic ataxia, Hemiplegia, Hemiparesis, Cerebellar hypoplas...	OMIM:612656
Cataract 1, Multiple Types	Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract	OMIM:116200
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Finger dacty...	ORPHA:232
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abnormal male externa...	ORPHA:95699
Meningococcal Meningitis	Skin rash, Papilledema, Renal insufficiency, Infectious encephalitis, Paresthesia	ORPHA:33475
Camurati-Engelmann Disease, Type 2	Osteopenia, Hyperostosis, Thoracolumbar scoliosis, Hip contracture, Knee flexion contracture	OMIM:606631
Brittle Cornea Syndrome	Scoliosis, Abnormal epiphysis morphology, Camptodactyly, Osteoporosis, Arachnodactyly, Hip dyspla...	ORPHA:90354
Spinocerebellar Ataxia 44	Dysdiadochokinesis, Spasticity, Cerebellar atrophy, Frequent falls, Gait ataxia, Ataxia, Dysmetria	OMIM:617691
Shukla-Vernon Syndrome	Wide nasal base, Broad-based gait, Cerebellar atrophy, Downslanted palpebral fissures, Attention ...	OMIM:301029
Developmental And Epileptic Encephalopathy 47	Limb ataxia, Inability to walk, Cerebellar atrophy, Gait disturbance, Ataxia, Optic disc pallor	OMIM:617166
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hypertriglyceridemia, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase ...	OMIM:613327
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Hypospadias, Horseshoe kidney, Recurrent urinary tract infections, Ve...	OMIM:619103
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis, Uterine leiomyom...	OMIM:617100
Behçet Disease	Optic neuritis, Pericarditis, Ataxia, Splenomegaly, Recurrent aphthous stomatitis, Memory impairm...	ORPHA:117
Masa Syndrome	Lower limb spasticity, Paraplegia, Hyperlordosis, Shuffling gait, Kyphosis, Spastic paraplegia, S...	OMIM:303350
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Sco...	ORPHA:88630
Pseudomyxoma Peritonei	Intestinal obstruction, Lymphadenopathy, Abnormal peritoneum morphology, Ascites, Inflammation of...	ORPHA:26790
Dent Disease	Rickets, Delayed epiphyseal ossification, Elevated circulating creatine kinase concentration, Enl...	ORPHA:1652
X-Linked Charcot-Marie-Tooth Disease Type 4	Impaired pain sensation, Scoliosis, Tremor, Kyphosis, Gait disturbance, Distal muscle weakness, A...	ORPHA:101078
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g...	ORPHA:206484
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Scoliosis, Kyphosis, Osteoporosis, Joint hypermobility	OMIM:619718
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis	ORPHA:79084
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertonia, Jaundice, Hepatomegaly, Tetraplegia, Ataxia, Splenomegaly, Hemiplegia, Meningitis, In...	OMIM:267700
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Nail-Patella Syndrome	Reduced bone mineral density, Abnormal femur morphology, Dislocated radial head, Contracture of t...	ORPHA:2614
Glycogen Storage Disease Due To Acid Maltase Deficiency	Fatigable weakness of respiratory muscles, Gowers sign, Progressive proximal muscle weakness, Hyp...	ORPHA:365
Familial Hemophagocytic Lymphohistiocytosis	Decreased liver function, Cholestatic liver disease, Jaundice, Elevated circulating hepatic trans...	ORPHA:540
Weismann-Netter Syndrome	Scoliosis, Calvarial hyperostosis, Horizontal sacrum, Kyphosis, Severe short stature, Delayed eru...	OMIM:112350
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Slc35A2-Cdg	Cerebral atrophy, Transient nephrotic syndrome, Elevated circulating hepatic transaminase concent...	ORPHA:356961
2P15P16.1 Microdeletion Syndrome	Optic nerve hypoplasia, Kyphosis, Hypogonadism, Intrauterine growth retardation, Optic atrophy, S...	ORPHA:261349
Spastic Paraplegia 51, Autosomal Recessive	Babinski sign, Long nose, Inability to walk, Spasticity, Cerebellar atrophy, Cerebral cortical at...	OMIM:613744
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Immunodeficiency 37	Recurrent infections, Infectious encephalitis, Colitis	OMIM:616098
Amish Lethal Microcephaly	Limitation of joint mobility, Decreased skull ossification, Osteoporosis	ORPHA:99742
Frank-Ter Haar Syndrome	Osteopenia, Kyphoscoliosis, Flared metaphysis, Wide anterior fontanel, Anterior concavity of thor...	OMIM:249420
Cone-Rod Dystrophy, X-Linked, 1	Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli...	OMIM:304020
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Short palpebral fissure, Wide nasal base, Anteverted nares, Cerebellar atrophy, Cerebral cortical...	OMIM:617763
Abetalipoproteinemia	Retinopathy, Retinal degeneration, Fat malabsorption, Abetalipoproteinemia	OMIM:200100
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Scoliosis, Kyphosis, Flexion contracture, Joint hypermobility	OMIM:618323
Combined Oxidative Phosphorylation Deficiency 59	Failure to thrive, Retinal degeneration, Hyperalaninemia, Cholelithiasis	OMIM:620646
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Intestinal pseudo-obstruction, Recurrent infections, Neurogenic bladder, Cerebellar atrophy, Invo...	OMIM:619780
Lissencephaly 6 With Microcephaly	Limb hypertonia, Anteverted nares, Spasticity, Cerebellar atrophy, Almond-shaped palpebral fissur...	OMIM:616212
Mitochondrial Dna Depletion Syndrome 17	Cerebral atrophy, Hemiballismus, Chorea, Cerebellar atrophy, Spastic tetraparesis, Hepatic failure	OMIM:618567
Lenz-Majewski Hyperostotic Dwarfism	Abnormal metaphysis morphology, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morph...	ORPHA:2658
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Cerebellar cortical atrophy, Urinary i...	ORPHA:247234
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Anteverted nares, Flared nostrils, Tremor, Episodic ataxia, Ptosis, Dystonia, A...	OMIM:312170
Intellectual Developmental Disorder, Autosomal Recessive 79	Broad-based gait, Incoordination, Gait ataxia, Intention tremor, Eczematoid dermatitis, Oligomeno...	OMIM:620393
Spinocerebellar Ataxia 6	Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Truncal ataxia, Incoordination, ...	OMIM:183086
Cog8-Cdg	Poor head control, Protein-losing enteropathy, Elevated circulating hepatic transaminase concentr...	ORPHA:95428
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Cerebral atrophy, Brain atrophy, Failure to thrive, Hypodontia, Retinal degeneration	ORPHA:442835
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Impaired pain sensation, Scoliosis, Tremor, Kyphosis, Gait disturbance, Paraparesi...	ORPHA:99014
Spinocerebellar Ataxia 26	Limb ataxia, Truncal ataxia, Incoordination, Cerebellar atrophy, Gait ataxia	OMIM:609306
Gaucher Disease	Decreased HDL cholesterol concentration, Increased circulating antibody level, Joint stiffness, L...	ORPHA:355
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Scoliosis, Hyperlordosis, Elbow flexion contracture, Kyphosis, Hip contracture, Knee flexion cont...	OMIM:600175
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Scoliosis, Reduced bone mineral density	ORPHA:466926
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Kyphoscoliosis, Platyspondyly, Pathologic fracture, Vertebral compression fracture, S...	OMIM:259770
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Intrauterine growth retardation, Viral encephalitis	OMIM:619441
Alpha-Mannosidosis, Adult Form	Recurrent infections, Clumsiness, Confusion, Subcortical cerebral atrophy, Cerebellar atrophy, Op...	ORPHA:309288
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Limb ataxia, Broad-based gait, Truncal ataxia, Cerebellar vermis atrophy, Anteverted nares, Promi...	OMIM:617101
Baralle-Macken Syndrome	Global brain atrophy, Urinary incontinence, High, narrow palate, Inability to walk, Spasticity, K...	OMIM:619255
Werner Syndrome	Hypertriglyceridemia, Reduced bone mineral density, Elevated hemoglobin A1c, Osteoporosis	OMIM:277700
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short philtrum, Scoliosis, Everted lower lip vermilion, Kyphosis, Wide mouth, Truncal obesity, Th...	ORPHA:2429
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Glutaric Acidemia I	Glutaric aciduria, Hepatomegaly, Symmetrical progressive peripheral demyelination, Delayed myelin...	OMIM:231670
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Cerebral atrophy, Delayed puberty, Hypospadias, Broad-based gait, Poor coordination, Dysdiadochok...	OMIM:618891
Gerstmann-Straussler Disease	Limb ataxia, Bradykinesia, Apraxia, Memory impairment, Truncal ataxia, Spasticity, Tremor, Cerebe...	OMIM:137440
Short Stature-Micrognathia Syndrome	Penoscrotal hypospadias, Rhizomelia, Cerebellar atrophy, High palate, Gait ataxia, Short stature,...	OMIM:617164
Gaucher Disease Type 3	Anemia, Increased circulating antibody level, Pancytopenia, Increased bone mineral density, Throm...	ORPHA:77261
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost...	OMIM:241520
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d...	OMIM:166740
Microphthalmia-Brain Atrophy Syndrome	Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Spasticity, Corpus callo...	ORPHA:77299
Congenital Erythropoietic Porphyria	Osteopenia, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Osteop...	ORPHA:79277
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Sarcoidosis	Enlarged lacrimal glands, Abnormal liver parenchyma morphology, Hepatomegaly, Abnormal nasal muco...	ORPHA:797
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Anteriorly placed anus, Cerebellar vermis hypoplasia, Truncal ataxia, Gliosis, Highl...	OMIM:220111
Congenital Myopathy 8	Cardiomegaly, High palate	OMIM:618654
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Herpes simplex encephalitis, Recurrent herpes	OMIM:610551
Charcot-Marie-Tooth Disease Type 4B2	Tip-toe gait, Kyphoscoliosis, Proximal muscle weakness in upper limbs, Difficulty walking, Distal...	ORPHA:99956
Leber Congenital Amaurosis 1	Hepatomegaly, Optic disc drusen, Keratoconus, Hyperthreoninuria, Cataract, Pigmentary retinopathy	OMIM:204000
Ataxia-Oculomotor Apraxia 3	Distal sensory impairment, Oculomotor apraxia, Peripheral axonal neuropathy, Cerebellar atrophy, ...	OMIM:615217
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Kyphoscoliosis, Vertebral compression fracture, Hyperextensibility of the finger joints, Scoliosi...	OMIM:309583
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Short neck	OMIM:300718
4Q21 Microdeletion Syndrome	Scoliosis, Tremor, Kyphosis, Long eyelashes, Synophrys, Ptosis, Short neck, Growth delay, Agenesi...	ORPHA:238750
Lathosterolosis	Anisopoikilocytosis, 2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Butterfly verteb...	OMIM:607330
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc...	OMIM:620367
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Inability to walk, Cortical myoclonus, Abnormal circulating enzyme concentratio...	ORPHA:168491
X Small Rings	Reduced bone mineral density, Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syn...	ORPHA:96201
Developmental And Epileptic Encephalopathy 5	Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Cerebral cort...	OMIM:613477
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Combined Oxidative Phosphorylation Defect Type 27	Involuntary movements, Upper limb postural tremor, Diffuse cerebral atrophy, Diffuse cerebellar a...	ORPHA:477774
Episodic Ataxia Type 6	Hemiplegia, Cerebellar atrophy, Ataxia, Slurred speech	ORPHA:209967
Ataxia With Vitamin E Deficiency	Xanthelasma, Impaired proprioception, Progressive cerebellar ataxia, Positive Romberg sign, Dysdi...	OMIM:277460
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Lissencephaly Syndrome, Norman-Roberts Type	Wide nose, Cerebellar atrophy, Hypoplastic spleen, Agenesis of corpus callosum, Intrauterine grow...	ORPHA:89844
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Arachnodactyly, Slender long bones with narrow diaphyses, Joint hypermobility, Ad...	ORPHA:536467
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebral atrophy, Babinski sign, Short nose, Hydroureter, Hypercalciuria, Anteverted nares, Scoli...	OMIM:615398
Developmental And Epileptic Encephalopathy 48	Cerebral atrophy, Limb hypertonia, Cerebellar atrophy, Long eyelashes, Long palpebral fissure, Op...	OMIM:617276
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Squamous Cell Carcinoma Of The Anal Canal	Rectal prolapse, Anal stenosis, Lymphadenopathy, Anal canal squamous cell carcinoma, Neoplasm of ...	ORPHA:424019
Q Fever	Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hematuria, Me...	ORPHA:781
Mitochondrial Complex I Deficiency, Nuclear Type 26	Cerebral atrophy, Limb hypertonia, Cerebellar atrophy, Dystonia, Choreoathetosis, Lacticaciduria	OMIM:618247
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Arthritis, Osteoporosis, Joint stiffness, Abnormal metacarpophal...	ORPHA:465508
Congenital Disorder Of Glycosylation, Type Iil	Cerebral atrophy, Optic atrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transamina...	OMIM:614576
Linear Verrucous Nevus Syndrome	Reduced bone mineral density, Scoliosis, Short metacarpal, Hypophosphatemia, Toe syndactyly	ORPHA:2611
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Hypocalcemia, Abnormal pituitary gland mo...	ORPHA:64744
Combined Oxidative Phosphorylation Deficiency 27	Cerebral atrophy, Global brain atrophy, Microvesicular hepatic steatosis, Chorea, Cerebellar atro...	OMIM:616672
Cerebrotendinous Xanthomatosis	Cerebral atrophy, Xanthelasma, Babinski sign, Difficulty walking, Cholelithiasis, Ankle clonus, A...	OMIM:213700
Senior-Loken Syndrome 9	Retinal dystrophy, Macular degeneration, Cholestasis, Obesity, Hypogonadism, Hepatic fibrosis, Ro...	OMIM:616629
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Genu valgum, Anemia, Metaphyseal sclerosis, Scoliosis, Bowing of the long bones, Oste...	OMIM:612199
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly	OMIM:620010
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Bilateral ptosis, Elevated circulating hepatic transaminase concentration, Oculomotor apraxia, Ge...	ORPHA:404454
Micro Syndrome	Optic atrophy, Short nose, Delayed puberty, Hypoplasia of penis, Cerebellar vermis hypoplasia, An...	ORPHA:2510
Distal Deletion 10Q	Inferior cerebellar vermis hypoplasia, Oculomotor apraxia, Facial diplegia, Ataxia, Lateral ventr...	ORPHA:96148
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Renal insufficiency, Thyroi...	ORPHA:139402
Sjogren-Larsson Syndrome	Macular dots, Retinal thinning, Macular degeneration, Macular crystals, Enamel hypoplasia, Retina...	OMIM:270200
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Short Stature, Microcephaly, And Endocrine Dysfunction	Long nose, Ectopic kidney, Disproportionate short-limb short stature, Cognitive impairment, Ataxi...	OMIM:616541
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of pattern visual evoked potentials, Cerebral cortical atrophy, Broad columella, Reti...	ORPHA:166035
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Chime Syndrome	Acute leukemia, Aplasia/Hypoplasia of the phalanges of the toes, Short foot, Short palm, Aplasia/...	ORPHA:3474
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Macular degeneration, Obesity, Attenuation of retinal bl...	OMIM:613464
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Wieacker-Wolff Syndrome	Cerebral atrophy, Oculomotor apraxia, Apraxia, Anteverted nares, Scoliosis, Hyperlordosis, Facial...	OMIM:314580
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic...	OMIM:608836
Congenital Disorder Of Glycosylation, Type Iii	Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Neurogenic bladder, Truncal ataxi...	OMIM:613612
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb muscle weakness, Distal upper limb muscle weakness, Impaired vibration sensatio...	ORPHA:90103
Developmental And Epileptic Encephalopathy 93	Cerebral atrophy, Optic atrophy, Inability to walk, Cerebellar atrophy, Spastic tetraparesis, Gai...	OMIM:618012
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Micropenis	OMIM:610156
Peroxisome Biogenesis Disorder 5A (Zellweger)	Palpebral edema, Clitoral hypertrophy, Cerebellar atrophy, Cholestasis, Increased circulating lac...	OMIM:614866
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Difficulty walking, Abnormality of extrapyramidal motor function, Peripheral axona...	ORPHA:320406
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Fatty Acid Hydroxylase-Associated Neurodegeneration	Optic atrophy, Progressive spastic paraparesis, Falls, Cerebellar vermis atrophy, Atrophy of the ...	ORPHA:329308
Encephalocraniocutaneous Lipomatosis	Bone cyst, Abnormal cartilage morphology, Craniofacial hyperostosis, Osteolysis	ORPHA:2396
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Pe...	ORPHA:2538
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Babinski sign, Spasticity, Facial diplegia, Cerebellar atrophy, High palate, Ptosi...	OMIM:618186
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal esophagus morphology, Abnormal pericardium morphology, D...	ORPHA:2357
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Anteverted nares, Scoliosis, Hyperlordosis, Kyphosis, Synophrys, Ptos...	OMIM:615761
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Reduced bone mineral density, Recurrent fractures, Osteoporosis	ORPHA:2235
Congenital Disorder Of Glycosylation, Type Iie	Decreased liver function, Cerebellar atrophy, Splenomegaly, Intrauterine growth retardation, Jaun...	OMIM:608779
Spinocerebellar Ataxia, Autosomal Recessive 11	Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia	OMIM:614229
Immunodeficiency 114, Folate-Responsive	Cerebral atrophy, Postnatal growth retardation, Hepatomegaly, Recurrent lower respiratory tract i...	OMIM:620603
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Rift Valley Fever	Jaundice, Elevated circulating hepatic transaminase concentration, Hematuria, Decerebrate rigidit...	ORPHA:319251
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
3-Methylglutaconic Aciduria, Type Viib	Cerebral atrophy, 3-Methylglutaconic aciduria, Hyperkinetic movements, Rhizomelia, Recurrent infe...	OMIM:616271
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Vertebral compression fracture, Kyphosis, Osteoporosis, Biconcave vertebral bodies	OMIM:219090
Reynolds Syndrome	Cirrhosis, Jaundice, Keratoconjunctivitis sicca, Hepatomegaly, Arthritis, Skin rash, Xerostomia, ...	ORPHA:779
Cone-Rod Dystrophy 15	Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy	OMIM:613660
Developmental And Epileptic Encephalopathy 99	Frontotemporal cerebral atrophy, Eyelid myoclonus, Atrophy/Degeneration affecting the brainstem, ...	OMIM:619606
Distal Deletion 10P	Hypoplasia of penis, Ectopic anus, Anal atresia, Cleft palate, Polycystic ovaries, Cryptorchidism	ORPHA:1580
Microsporidiosis	Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Bronchiolitis, Abnor...	ORPHA:2552
X-Linked Charcot-Marie-Tooth Disease Type 1	Impaired pain sensation, Scoliosis, Tremor, Kyphosis, Gait disturbance, Ataxia	ORPHA:101075
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	Herpes simplex encephalitis	OMIM:616532
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Patchy atrophy of the retinal pigment epithelium, Undetectable visual evoked potentials, Broad co...	ORPHA:436245
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys...	ORPHA:91495
Achromatopsia 7	Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea	OMIM:616517
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Optic atrophy, Babinski sign, 3-Methylglutaconic aciduria, Hyperkinetic movements, Elevated urine...	OMIM:620089
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Dysphagia	ORPHA:50251
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Cerebral atrophy, Inability to walk, Limb hypertonia, Abnormality of extrapyramidal motor functio...	ORPHA:500180
Dietary Iron Overload Disease	Elevated transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferri...	ORPHA:139507
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Hepatosplenomegaly	OMIM:273680
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis	OMIM:615954
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Cerebral atrophy, Anteverted nares, Scoliosis, Cerebellar atrophy, Downslanted palpebral fissures...	OMIM:616266
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Patholog...	OMIM:620366
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Delayed cal...	OMIM:183900
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Cerebral atrophy, Cerebellar vermis atrophy, High palate, Epicanthus, CNS hypomyelination, Wide n...	OMIM:615760
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Osteoporosis	OMIM:610489
Oculodentodigital Dysplasia	Abnormal metaphysis morphology, Cranial hyperostosis, Abnormal cortical bone morphology, Clinodac...	ORPHA:2710
Autosomal Dominant Progressive External Ophthalmoplegia	External ophthalmoplegia, Elevated circulating hepatic transaminase concentration, Facial diplegi...	ORPHA:254892
Cockayne Syndrome B	Kyphosis, Ataxia, Peripheral dysmyelination, Splenomegaly, Severe short stature, Intrauterine gro...	OMIM:133540
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Short nose, Hypertonia, Narrow nasal bridge, Scoliosis, Spasticity, Cerebellar atrophy, Delayed m...	ORPHA:544503
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Osteopenia, Anemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Bone marrow h...	OMIM:613990
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t...	OMIM:618886
3-Methylglutaconic Aciduria Type 7	Cerebral atrophy, 3-Methylglutaconic aciduria, Hypertonia, Elevated circulating hepatic transamin...	ORPHA:445038
Dystonia-Aphonia Syndrome	Cerebral atrophy, Oromandibular dystonia, Cerebellar atrophy, Gait disturbance, Cognitive impairm...	ORPHA:412217
Bethlem Myopathy 2	Distal joint hypermobility, Scoliosis, Flexion contracture, Kyphosis	OMIM:616471
Spinocerebellar Ataxia 15	Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor	OMIM:606658
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Scoliosis, Limitation of joint mobility, ...	ORPHA:177
Familial Or Sporadic Hemiplegic Migraine	Distal upper limb muscle weakness, Alien limb phenomenon, Impaired temperature sensation, Paresth...	ORPHA:569
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Cerebral atrophy, Anteverted nares, Long philtrum, Retinal degeneration	OMIM:616211
Jacobsen Syndrome	Ectropion, Abnormal form of the vertebral bodies, Intestinal malrotation, Abnormality of the anus...	ORPHA:2308
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Lattice retinal degeneration, Rhegmatogenous retinal detachment	OMIM:619248
Hepatoerythropoietic Porphyria	Osteopenia, Osteoporosis, Hemolytic anemia, Abnormal circulating porphyrin concentration, Splenom...	ORPHA:95159
Intellectual Developmental Disorder, Autosomal Recessive 5	Postnatal growth retardation, Hypertonia, Telecanthus, Broad-based gait, Spasticity, Synophrys, I...	OMIM:611091
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebral atrophy, Poor head control, Hypertonia, Hypospadias, Tetraplegia, Cerebellar atrophy, Hi...	OMIM:619272
Wieacker-Wolff Syndrome, Female-Restricted	Urinary incontinence, Inability to walk, Oculomotor apraxia, Brain atrophy, Scoliosis, Spasticity...	OMIM:301041
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Supernumerary nipple, Patchy atrophy of the retinal pigment ...	ORPHA:1433
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Hypocholesterolemia, ...	OMIM:615558
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Long nose, Hyperkinetic movements, Urinary incontinence, Neuronal loss in central nervous system,...	OMIM:300243
Spastic Paraplegia 39, Autosomal Recessive	Babinski sign, Distal lower limb muscle weakness, Atrophy of the spinal cord, Cerebellar atrophy,...	OMIM:612020
Acquired Hypertrichosis Lanuginosa	Glossitis, Macroglossia, Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Postnatal growth retardation, Steatorrhea, Hepatomegaly, Demyelinating periphera...	OMIM:616263
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pyloric stenosis, Bone marrow hypocellularity, ...	ORPHA:381
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Hypospadias, Cataract, Hypoplasia of penis	ORPHA:1381
Cole-Carpenter Syndrome 2	Osteopenia, Postnatal growth retardation, Lambdoidal craniosynostosis, Triangular face, High pala...	OMIM:616294
Primary Ciliary Dyskinesia	Nasal congestion, Chronic rhinitis, Asplenia, Intestinal malrotation, Nasal polyposis, Rod-cone d...	ORPHA:244
American Trypanosomiasis	Myocarditis, Aganglionic megacolon, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly, ...	ORPHA:3386
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Osteoporosis, Bone marrow hypocellularity, Leukopenia, Thrombocyto...	OMIM:613989
Marden-Walker Syndrome	Inferior cerebellar vermis hypoplasia, Kyphosis, Intrauterine growth retardation, Hypospadias, Da...	OMIM:248700
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Castleman Disease	Intestinal obstruction, Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria...	ORPHA:160
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis, Short stature, Epicanthus, Depressed nasal bridge	OMIM:300434
Osteogenesis Imperfecta, Type Viii	Osteopenia, Platyspondyly, Vertebral compression fracture, Slender long bone, Femoral retroversio...	OMIM:610915
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Amyloidosis, Finnish Type	Optic neuropathy, Nephrotic syndrome, Lattice corneal dystrophy, Urolithiasis, Renal glomerular a...	OMIM:105120
Neurodegeneration With Brain Iron Accumulation 2B	Cerebral atrophy, Optic atrophy, Babinski sign, Hypertonia, Bradykinesia, Mental deterioration, D...	OMIM:610217
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Kyphoscoliosis, Short palpebral fissure, Palpebral edema, Babinski sign, Wide nasal base, Telecan...	ORPHA:397709
Cockayne Syndrome	Delayed puberty, Urinary incontinence, Elevated circulating hepatic transaminase concentration, C...	ORPHA:191
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Rectovaginal fistula, Cerebellar atrophy, Kyphosis, Intention tremor, Hypoplasia o...	OMIM:619708
X-Linked Intellectual Disability Due To Gria3 Mutations	Narrow palate, Babinski sign, Cerebellar vermis hypoplasia, Recurrent infections, Scoliosis, Spas...	ORPHA:364028
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy	ORPHA:85447
Radio-Tartaglia Syndrome	Highly arched eyebrow, Ataxia, Anteverted nares, Scoliosis, Tremor, Downslanted palpebral fissure...	OMIM:619312
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Ascites, Abnormality of the ovary, Peritonitis, Gonadal calcifi...	ORPHA:314473
Spastic Tetraplegia And Axial Hypotonia, Progressive	Babinski sign, Hypertonia, Lower limb spasticity, Fasciculations, Spastic tetraparesis, Cerebella...	OMIM:618598
Mcdonough Syndrome	Abnormal palate morphology, Short philtrum, Cachexia, Scoliosis, Open bite, Kyphosis, Short statu...	ORPHA:2471
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Osteogenesis Imperfecta, Type Xi	Kyphoscoliosis, Osteopenia, Triangular face, Vertebral compression fracture, Vertebral wedging, S...	OMIM:610968
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Harderoporphyria	Increased fecal harderoporphyrin, Hepatomegaly, Increased urine harderoporphyrin level, Increased...	OMIM:618892
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Webbed neck, Abnormality of the palpebral fissures, Scoliosis, High palate, Kyphosis, Axial muscl...	ORPHA:178148
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly	ORPHA:75234
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Optic nerve hypoplasia, Scoliosis, Spasticity, Gait disturbance, Cerebral cortical...	ORPHA:163937
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndr...	OMIM:617303
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Eyelid myoclonus, Pontocerebellar atrophy, Spina bifida occulta, Oculomotor apraxia, Incoordinati...	OMIM:618060
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebral atrophy, Hepatomegaly, Brain atrophy, Neuronal loss in central nervous system, Gliosis, ...	OMIM:604377
Complement Component 8 Deficiency, Type I	Meningitis	OMIM:613790
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Inflammation of the large intestin...	OMIM:300635
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Platyspondyly, Flat face, Delayed epiphyseal ossification, Neonatal short-trunk s...	ORPHA:93360
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Delayed puberty, Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasi...	ORPHA:456312
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Short finger, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Scoliosis, Osteoporos...	OMIM:300998
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Lymphadenopathy	OMIM:605258
Fliedner-Zweier Syndrome	Hypertonia, Unilateral renal agenesis, Scoliosis, Cerebellar atrophy, High palate, Kyphosis, Trac...	OMIM:620511
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Stt3B-Cdg	Optic atrophy, Cerebellar atrophy, Small scrotum, Cryptorchidism, Micropenis, Intrauterine growth...	ORPHA:370924
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Splenomegaly, Atroph...	OMIM:616100
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Poor head control, Pelvic girdle muscle weakness, Progressive muscle weakness, Ge...	ORPHA:2020
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ...	ORPHA:93315
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy, Cerebellar atrophy, Small scrotum, Cryptorchidism, Micropenis, Intrauterine growth...	OMIM:615597
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Perrault Syndrome 4	Osteoporosis	OMIM:615300
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Calcinosis, Short clavicles, Osteolytic defects of the distal phalanges of the hand, ...	OMIM:248370
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Abnormality of retinal pigmentation, Abnormal dental enamel mo...	ORPHA:816
Congenital Enterovirus Infection	Myocarditis, Skin rash, Meningitis, Cholestasis, Hepatitis, Infectious encephalitis, Hepatic failure	ORPHA:292
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Aromatase Deficiency	Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female...	ORPHA:91
Cataract 3, Multiple Types	Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract	OMIM:601547
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Elbow flexion contracture, Osteoporosis, Flexion contracture, Hip dislocation	OMIM:614438
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Ciliary Dyskinesia, Primary, 35	Abdominal situs ambiguus, Nasal polyposis, Chronic rhinitis	OMIM:617092
Zimmermann-Laband Syndrome 3	High palate, Kyphosis, Synophrys, Long eyelashes, Bifid uvula, Thick eyebrow, Broad nasal tip, Wi...	OMIM:618658
Chromosome 3Pter-P25 Deletion Syndrome	Highly arched eyebrow, Intrauterine growth retardation, Sacral dimple, Anteverted nares, Short st...	OMIM:613792
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Hypochromic microcytic anemia, Genu valgum, Decreased mean corpu...	ORPHA:231226
Joubert Syndrome 37	Hepatomegaly, Oculomotor apraxia, Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, High...	OMIM:619185
Cowden Syndrome	Adenoma sebaceum, Colorectal polyposis, High palate, Furrowed tongue, Enlarged polycystic ovaries...	ORPHA:201
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Intestinal pseudo-obstruction, Peritoneal abscess, Colon cancer, Hepat...	ORPHA:1333
Bohring-Opitz Syndrome	Narrow palate, Sacral dimple, Hyperechogenic pancreas, Supernumerary nipple, Recurrent infections...	OMIM:605039
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Short palpebral fissure, Telecanthus, Narrow nasal bridge, Cerebellar vermis hypoplasia, Labial h...	OMIM:620073
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, High, narrow palate, Ankle flexion contracture, Foot joint contracture, Shoulder ...	ORPHA:536516
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Chronic axonal neuropathy, Distal sensory impairment, Foot osteomyelitis, Tongue fasciculations, ...	OMIM:162400
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy	OMIM:105200
Craniosynostosis 6	Spina bifida occulta, Dandy-Walker malformation, Scoliosis, Cerebellar atrophy, Ptosis, Agenesis ...	OMIM:616602
Bruck Syndrome 2	Osteopenia, Elbow flexion contracture, Femoral bowing, Flexion contracture, Knee flexion contract...	OMIM:609220
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Highly arched eyebrow, Brain atrophy, Anteverted nares, Tremor, High palate, Short ...	OMIM:618342
Diaphanospondylodysostosis	Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia	OMIM:608022
Spinocerebellar Ataxia 4	Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Cerebellar atrophy, Limb...	OMIM:600223
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar atrophy, Gait ataxia, Ataxia, Poor head control, Broad-based gait, Cerebellar vermis h...	OMIM:617330
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebral atrophy, Babinski sign, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy...	OMIM:616192
Congenital Disorder Of Glycosylation, Type Ie	Optic atrophy, Pontocerebellar atrophy, Hepatomegaly, Elevated circulating hepatic transaminase c...	OMIM:608799
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
3C Syndrome	Hypoplasia of penis, Kyphosis, Intestinal malrotation, Aplasia/Hypoplasia of the cerebellum, Opti...	ORPHA:7
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Delayed myelination, Prolonged neonatal jaundice, Downslanted palpebral fissures, Crypt...	OMIM:618512
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Dysphagia	ORPHA:77260
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Hypertonia, Hepatomegaly, Abnormality of Krebs cycle metabolism, Lacticaciduria, C...	ORPHA:255210
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Inferior cerebellar vermis hypoplasia, Limb hypertonia, Fasciculations, Brain atrophy, Tremor, Ce...	OMIM:620327
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Autosomal Recessive Spastic Paraplegia Type 39	Babinski sign, Lower limb spasticity, Atrophy of the spinal cord, Cerebellar atrophy, Gait ataxia...	ORPHA:139480
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Ataxia-Oculomotor Apraxia 4	Oculomotor apraxia, Atrophy/Degeneration affecting the brainstem, Tetraplegia, Cerebellar atrophy...	OMIM:616267
Migraine, Familial Hemiplegic, 2	Apraxia, Confusion, Tremor, Cerebellar atrophy, Episodic ataxia, Gait ataxia, Hemiparesis, Hemipl...	OMIM:602481
Premature Aging Syndrome, Penttinen Type	Slender long bone, Scoliosis, Osteolytic defects of the distal phalanges of the hand, Tibial bowi...	OMIM:601812
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Cerebellar atrophy, High palate, Exagger...	OMIM:618056
Joubert Syndrome 3	Nephronophthisis, Elongated superior cerebellar peduncle, Oculomotor apraxia, Cerebellar vermis h...	OMIM:608629
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Recurrent sinusitis, Nasal polyposis, Coiled sperm flagella	OMIM:620197
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnor...	ORPHA:54251
Wiedemann-Steiner Syndrome	Broad lateral eyebrow, Highly arched eyebrow, Intrauterine growth retardation, Sacral dimple, Bro...	OMIM:605130
Sialidosis Type 1	Abnormal form of the vertebral bodies, Scoliosis, Tremor, Myoclonus, Kyphosis, Gait disturbance, ...	ORPHA:812
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Agammaglobulinemia, X-Linked	Recurrent otitis media, Pyoderma, Prostatitis, Recurrent lower respiratory tract infections, Recu...	OMIM:300755
Fetal Akinesia Deformation Sequence 4	High palate, Camptodactyly, Kyphosis, Arthrogryposis multiplex congenita, Short neck, Cryptorchidism	OMIM:618393
Difference Of Sex Development-Intellectual Disability Syndrome	Reduced bone mineral density, Genu valgum, Spina bifida occulta, Kyphosis	ORPHA:2983
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Ritscher-Schinzel Syndrome 4	Narrow palate, Dandy-Walker malformation, Scoliosis, Athetosis, Chorea, High palate, Short statur...	OMIM:619435
Coenzyme Q10 Deficiency, Primary, 5	Cerebral atrophy, Hypertonia, Cerebellar atrophy, Dystonia, Intrauterine growth retardation	OMIM:614654
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Protein-losing enteropathy, Abnormal fallopian tube morphology, Pancreatic lymphang...	ORPHA:1655
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs, Hypophosphatemia	OMIM:146350
Chromosome 3Q13.31 Deletion Syndrome	High palate, Kyphosis, Decreased testicular size, Ptosis, Downslanted palpebral fissures, Epicant...	OMIM:615433
Leber Congenital Amaurosis 8	Macular coloboma, Keratoconus, Nummular pigmentation of the fundus, Cataract, Pigmentary retinopathy	OMIM:613835
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Abnormal cartilage matrix, Epiphyseal stippling, Abnormal bone structure, Short metacarpal, Short...	ORPHA:86822
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Tracheoesophageal fistula, Shallow orbits, Bifid uvula, Intrauterine growth r...	OMIM:301030
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t...	OMIM:221900
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ...	OMIM:608184
Developmental And Epileptic Encephalopathy 65	Cerebral atrophy, Spasticity, Cerebellar atrophy, Highly arched eyebrow	OMIM:618008
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Clonus, Gait disturbance, Cognitive impairment, Spastic paraplegia, Dystonia, Lower lim...	OMIM:614898
Choreoacanthocytosis	Chorea, Abnormal erythrocyte enzyme concentration or activity, Lingual dystonia, Limb dystonia, D...	ORPHA:2388
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro...	OMIM:616217
Fragile X-Associated Tremor/Ataxia Syndrome	Bradykinesia, Dementia, Memory impairment, Dysesthesia, Pollakisuria, Impotence, Gait disturbance...	ORPHA:93256
Metatropic Dysplasia	Kyphoscoliosis, Caudal appendage, Relatively short spine, Disproportionate short-limb short statu...	OMIM:156530
15Q24 Microdeletion Syndrome	Postnatal growth retardation, Abnormal palate morphology, Decreased response to growth hormone st...	ORPHA:94065
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Abnormality of the orbital region, Optic nerve hypoplasia, Cerebellar atrophy, Olivopontocerebell...	ORPHA:468631
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Gastroesophageal reflux, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Hsd10 Disease, Infantile Type	Optic atrophy, Frontotemporal cerebral atrophy, Cerebral atrophy, Hyperammonemia, Diffuse cerebra...	ORPHA:391428
Aceruloplasminemia	Aceruloplasminemia, Retinal degeneration, Increased circulating ferritin concentration, Decreased...	OMIM:604290
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebral atrophy, Optic atrophy, Limb hypertonia, Brain atrophy, Scoliosis, Cerebellar atrophy, A...	OMIM:616875
Developmental And Epileptic Encephalopathy 75	Decreased liver function, Optic atrophy, Babinski sign, Short nose, Frontal cortical atrophy, Spa...	OMIM:618437
Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Ab...	ORPHA:536471
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation,...	OMIM:208540
Coccidioidomycosis	Abnormal long bone morphology, Abnormal metacarpal morphology, Increased circulating IgG level, A...	ORPHA:228123
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebral atrophy, Elevated circulating hepatic transaminase concentration, Secondary amenorrhea, ...	OMIM:268020
Osteogenesis Imperfecta	Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Abnormal f...	ORPHA:666
Pontocerebellar Hypoplasia, Type 2B	Cerebral atrophy, Babinski sign, Limb hypertonia, Cerebellar vermis hypoplasia, Chorea, Spasticit...	OMIM:612389
Occipital Horn Syndrome	Limited elbow extension, Genu valgum, Platyspondyly, Decreased circulating ceruloplasmin concentr...	OMIM:304150
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Increased circulating IgE level, Abnormality of the dentition, Kyphosis, Short stature...	ORPHA:1858
Ghosal Hematodiaphyseal Dysplasia	Diaphyseal dysplasia, Increased bone mineral density, Refractory anemia, Myelofibrosis, Bone marr...	OMIM:231095
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Esophageal varix, Ascites, Portal hypertension, Thrombocy...	OMIM:619463
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Spinocerebellar Ataxia Type 21	Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar...	ORPHA:98773
Joubert Syndrome 30	Dandy-Walker malformation, Cerebellar atrophy, Ptosis, Agenesis of corpus callosum, Superior cere...	OMIM:617622
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Spastic tetraparesis, Delayed CNS myelination, Intrauterine growth retardation, Optic atrophy, Hy...	OMIM:616975
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Hip subluxation, Congenital bilateral hip dislocation, Distal joint hypermobility, El...	ORPHA:1900
Dysostosis, Stanescu Type	Abnormal palate morphology, Increased bone mineral density, Abnormal dental enamel morphology, Sc...	ORPHA:1798
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Increased circulatin...	ORPHA:157215
Florid Cemento-Osseous Dysplasia	Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi...	ORPHA:83451
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Highly arched eyebrow, Cerebellar atrophy, Optic atrophy, Hypospadias, Dandy-Walker malformation,...	ORPHA:487796
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Macs Syndrome	Joint hypermobility, Brachydactyly, Scoliosis, Osteoporosis	OMIM:613075
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Faciocardiomelic Syndrome	Osteopenia, Polydactyly, Slender long bone, Cuboid-shaped vertebral bodies, Hypoplastic pelvis, T...	OMIM:612731
Ataxia-Telangiectasia	Aplasia/Hypoplasia of the thymus, Polycystic ovaries, Abnormal testis morphology, Lymphopenia	ORPHA:100
Hajdu-Cheney Syndrome	Osteopenia, Kyphoscoliosis, Genu valgum, Osteolytic defects of the phalanges of the hand, Patholo...	OMIM:102500
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Trigeminal Neuralgia	Cranial nerve compression, CNS demyelination, Allodynia, Somatic sensory dysfunction, Peripheral ...	ORPHA:221091
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ...	OMIM:145350
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Limb hypertonia, Cerebellar atrophy, Short attention span, Gait ataxia, Protru...	OMIM:619580
Kleefstra Syndrome 2	Scoliosis, Everted lower lip vermilion, Kyphosis, Growth delay, Bifid uvula	OMIM:617768
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Hypophosphatemia, Abnormal epiphysis morphology,...	ORPHA:89936
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Alpha-Mannosidosis	Narrow palate, Widely spaced teeth, Craniofacial hyperostosis, Arthritis, Scoliosis, Open bite, G...	ORPHA:61
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Melioidosis	Liver abscess, Prostatitis, Parotitis, Splenic abscess, Abnormality of the spleen, Abnormal parot...	ORPHA:31202
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d...	ORPHA:364055
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Abnormal flash visual evoked potentials, Macular degener...	OMIM:618195
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Optic atrophy, Hypertonia, Dandy-Walker malformation, Scoliosis, Synophrys, Hemiplegia/hemiparesi...	ORPHA:1970
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools	OMIM:619868
Combined Oxidative Phosphorylation Deficiency 14	Cerebral atrophy, Increased hepatic glycogen content, Atrophy/Degeneration affecting the brainste...	OMIM:614946
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Cerebellar atrophy, Short stature, Growth delay, Splenomegaly, Epicanthus, Delayed ...	OMIM:618541
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor	OMIM:604393
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short clavicles, Osteolytic defects of the distal phalanges of the hand, Hyperlipidemia, Short ph...	OMIM:608612
Atypical Rett Syndrome	Pill-rolling tremor, Inability to walk, Apraxia, Impaired pain sensation, Scoliosis, Tremor, Spas...	ORPHA:3095
Spinocerebellar Ataxia 8	Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Cerebellar atrophy, Abnormal p...	OMIM:608768
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Cysticercosis	Memory impairment, Abnormality of the vertebral column, Mental deterioration, Confusion, Upper mo...	ORPHA:1560
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Bainbridge-Ropers Syndrome	Inferior cerebellar vermis hypoplasia, Highly arched eyebrow, Upslanted palpebral fissure, Intest...	OMIM:615485
Celiac Disease, Susceptibility To, 1	Rickets, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Osteoporosis, Thrombocytosis, D...	OMIM:212750
Adult-Onset Cervical Dystonia, Dyt23 Type	Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Cerebellar atrophy, Craniofacial...	ORPHA:420492
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Babinski sign, Hepatomegaly, Seborrheic dermatitis, Gliosis, Truncal ataxia, Cerebellar atrophy, ...	OMIM:301072
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Prader-Willi Syndrome	Osteopenia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Genu valgum, Radial de...	OMIM:176270
Fibrosis Of Extraocular Muscles, Congenital, 3C	Restrictive partial external ophthalmoplegia, Congenital bilateral ptosis, Highly arched eyebrow,...	OMIM:609384
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Reduced bone mineral density, Vertebral compression fracture, Hip cont...	OMIM:620232
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, T lymphocytopenia, Generalized osteoporosis, Brachydactyly, Thoracic scoliosis, Short...	ORPHA:2959
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Elevated circulating creatine kinase concentration, Retinal dystrophy	ORPHA:370022
Cleidocranial Dysplasia 2	Osteopenia, Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossification o...	OMIM:620099
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Spondyloocular Syndrome	Osteopenia, Femur fracture, Vertebral compression fracture, Arachnodactyly, Long fingers, Platysp...	OMIM:605822
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Babinski sign, Limb hypertonia, Scoliosis, High palate, Agenesis of corpus callosum, Cerebellar h...	OMIM:620316
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Short nose, Mesenteric cyst, Chiari type I malformation, Webbed neck, Hypospadias, Highly arched ...	OMIM:618316
Maternal Uniparental Disomy Of Chromosome 2	Decreased response to growth hormone stimulation test, Hypospadias, Bilateral cryptorchidism, Ret...	ORPHA:96179
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Elevated circulating hepa...	ORPHA:293987
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia	OMIM:615415
Beta-Thalassemia Major	Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Genu valgum,...	ORPHA:231214
Mucopolysaccharidosis, Type Iiid	Recurrent otitis media, Difficulty walking, Hepatomegaly, Anteverted nares, Cerebellar atrophy, S...	OMIM:252940
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Scoliosis, Broad metacarpals, Broad metatarsal, Joint stiffness, Lum...	OMIM:277600
Stickler Syndrome, Type V	Retinal detachment, Cataract	OMIM:614284
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Diffuse cerebellar atrophy, Progressi...	ORPHA:247815
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Mayer-Rokitansky-Küster-Hauser Syndrome	Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, P...	ORPHA:3109
Lowry-Maclean Syndrome	Osteopenia, Craniosynostosis, Osteoporosis	ORPHA:2409
Mitochondrial Myopathy And Sideroblastic Anemia	Delayed puberty, Scoliosis, High palate, Kyphosis, Long philtrum	ORPHA:2598
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Delayed puberty, Abnormal intestine morphology, Recurrent Aspergillus infections, Thyroiditis, Re...	ORPHA:391487
Clark-Baraitser syndrome	Thick lower lip vermilion, Scoliosis, Prominent median palatal raphe, Exaggerated median tongue f...	OMIM:300602
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Cadds	Short nose, Elevated circulating hepatic transaminase concentration, Cholangitis, Cholestasis, Ce...	ORPHA:369942
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Granulomatosis With Polyangiitis	Oral ulcer, Retinal hemorrhage, Weight loss, Nasal mucosa vasculitis, Concave nasal ridge	OMIM:608710
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Hepatomegaly, Peripheral axonal neuropathy, Spasticity, Anteverted na...	OMIM:618810
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Posteriorly placed anus, Pulmonic stenosis, Cardiomegaly, Right...	OMIM:306955
Intellectual Developmental Disorder, Autosomal Dominant 73	Long nose, Highly arched eyebrow, Hyperlordosis, Kyphosis, Tip-toe gait, Axillary pterygium, Cere...	OMIM:620450
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r...	OMIM:617304
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Alazami Syndrome	Short palpebral fissure, Retractile testis, Wide nose, Scoliosis, Severe short stature, Narrow pa...	OMIM:615071
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Pancytopenia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Asplenia, Nephritis, Coombs-positive hemolytic anemia, ...	OMIM:614034
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovaries, Hepati...	ORPHA:2348
Chédiak-Higashi Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Skin rash, Cer...	ORPHA:167
Kanzaki Disease	Cerebral atrophy, Distal sensory impairment, Axonal degeneration, Peripheral axonal neuropathy, D...	OMIM:609242
Spinocerebellar Ataxia-Dysmorphism Syndrome	Joint hypermobility, Reduced bone mineral density, Spina bifida occulta, Slender long bone	ORPHA:1185
Man1B1-Cdg	Underdeveloped nasolabial fold, Wide nose, Broad-based gait, Resting tremor, Long eyebrows, Long ...	ORPHA:397941
Emanuel Syndrome	Kyphosis, Intestinal malrotation, Recurrent sinusitis, Intrauterine growth retardation, Chronic o...	OMIM:609029
Schwartz-Jampel Syndrome	Flexion contracture of toe, Hyperlordosis, Abnormally ossified vertebrae, Wrist flexion contractu...	ORPHA:800
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Hypertonia, Anteverted nares, Scoliosis, Abnormal eyelash morphology, Cerebral cor...	ORPHA:2518
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Poor head control, Long nose, Inability to walk, Broad-based gait, Sensory axonal neuropathy, Sco...	OMIM:617146
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia, Hypogonadotropic...	ORPHA:353298
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Chronic rhinitis, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
46,Xy Sex Reversal 11	Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulatin...	OMIM:273250
Tonne-Kalscheuer Syndrome	Hypospadias, Broad-based gait, Spasticity, Tremor, Decreased testicular size, Short stature, Down...	OMIM:300978
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Aganglionic megacolon, Anal stenosis, Inability to walk, Dandy-Walker malformation, B...	OMIM:614207
Adams-Oliver Syndrome 5	Patent foramen ovale, Esophageal varix, Right atrial enlargement, Portal vein thrombosis, Pulmoni...	OMIM:616028
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic atrophy, Poor head control, Akinesia, Lower limb spasticity, Truncal ataxia, Cerebellar atr...	OMIM:618249
Short Stature-Wormian Bones-Dextrocardia Syndrome	Anterior hypopituitarism, Spasticity, High palate, Anal atresia, Cognitive impairment, Long eyela...	ORPHA:2863
Combined Oxidative Phosphorylation Deficiency 39	Cerebral atrophy, Babinski sign, Scoliosis, Spasticity, Cerebellar atrophy, Involuntary movements...	OMIM:618397
Diastrophic Dysplasia	Neonatal short-limb short stature, Abnormal form of the vertebral bodies, Increased bone mineral ...	ORPHA:628
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp...	ORPHA:2470
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Mental deterioration, Gait ataxia, Limb muscle weakness, Cognitive...	ORPHA:217260
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Scoliosis, Osteoporosis, Hip dysplasia, Short foot, Small hand	ORPHA:398079
Cooper-Jabs Syndrome	Reduced bone mineral density, Proximal placement of thumb, Abnormal hip bone morphology, Scoliosi...	ORPHA:1488
Ciliary Dyskinesia, Primary, 19	Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Nasal polyposis	OMIM:614935
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Kyphoscoliosis, Delayed ossification of carpal bones, Biconcave vertebral bodies, Metaphyseal irr...	OMIM:271510
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Reduced bone mineral density, Genu valgum, Platyspondyly, Scolios...	ORPHA:582
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla...	ORPHA:755
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Prostat...	ORPHA:158057
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Scoliosis, Abnormal testis morphology, Abnormality of the dentition, Kyphosis, Joint stiffness	ORPHA:1548
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit...	ORPHA:234
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Intellectual Developmental Disorder, Autosomal Dominant 62	Cerebellar vermis atrophy, Scoliosis	OMIM:618793
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Intraalveolar phospholipid accumulation, Osteoporosis, Hyperammonemia, ...	OMIM:222700
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Episodic Ataxia, Type 2	Progressive cerebellar ataxia, Cerebellar vermis atrophy, Episodic ataxia, Dystonia, Muscle weakn...	OMIM:108500
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Gastroesophageal reflux, Per...	OMIM:201475
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Urinary incontinence, Limb hypertonia, Appendicular spasticity, Cerebellar vermis hypoplasia, Bra...	OMIM:620070
Preeclampsia	Acute kidney injury, Abnormality of the hepatic vasculature, Thrombocytopenia, Proteinuria, Helic...	ORPHA:275555
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Abs...	OMIM:261000
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Optic atrophy, Hypertonia, Clitoral hypertrophy, Cerebellar vermis hypoplasia, Spasticity, Cerebe...	ORPHA:543470
Joubert Syndrome 6	Retinal degeneration, Chorioretinal coloboma, Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Multiple Osteochondromas	Abnormal femur morphology, Limitation of knee mobility, Deformed forearm bones, Abnormal lower li...	ORPHA:321
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Optic nerve hypoplasia, Spasticity, Cerebellar atrophy, Short stature...	OMIM:614833
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Scoliosis...	OMIM:166220
Craniofaciofrontodigital Syndrome	Osteopenia, Scoliosis, Osteoporosis, Joint hypermobility, Finger joint hypermobility	ORPHA:363705
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Abnormality of infra-orbital nerve, Prostatitis, Pancreatitis, Cholangi...	ORPHA:449563
Jalili Syndrome	Bone spicule pigmentation of the retina, Yellow-brown discoloration of the teeth, Cone/cone-rod d...	OMIM:217080
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating antibody lev...	ORPHA:470
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegaly	ORPHA:75233
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Immunoglobulin A Vasculitis	Optic atrophy, Hematuria, Arthritis, Skin rash, Episcleritis, Hemiplegia/hemiparesis, Pustule, Or...	ORPHA:761
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Scoliosis, Kyphosis, Arthrogryposis multiplex congenita, Flexion contracture of f...	OMIM:618484
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Huppke-Brendel Syndrome	Cerebral atrophy, CNS hypomyelination, Cerebellar atrophy, Inability to walk	OMIM:614482
Baraitser-Winter Cerebrofrontofacial Syndrome	Long nose, Palpebral edema, Highly arched eyebrow, Scoliosis, Depressed nasal tip, Downslanted pa...	ORPHA:2995
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Joint hypermobility, Scoliosis, Reduced bone mineral density, Recurrent fractures	OMIM:619115
Ullrich Congenital Muscular Dystrophy	Abnormal palate morphology, Spinal rigidity, Scoliosis, Elbow flexion contracture, Kyphosis, Wris...	ORPHA:75840
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebral atrophy, Short nose, Ureteral duplication, Anal stenosis, Anteverted nares, Spasticity, ...	OMIM:614080
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Renal salt wasting, Polyuria, Peripheral hypomyelination, Chronic axonal neuropathy, Hypocalciuri...	OMIM:612780
Ovarian Fibrothecoma	Ovarian fibroma, Ascites, Abnormality of the ovary, Abnormal endometrium morphology, Peritonitis,...	ORPHA:314478
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria	ORPHA:251004
Joubert Syndrome 10	Cerebellar vermis hypoplasia, Recurrent infections, Short stature, Growth delay, Downslanted palp...	OMIM:300804
Niemann-Pick Disease Type C	Abnormal CNS myelination, Chorea, Demyelinating peripheral neuropathy, Limb dystonia, Cognitive i...	ORPHA:646
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Retinal detachment, Macular degeneration, Lens luxation, Vesicourete...	OMIM:120330
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Poor head control, Intrahepatic cholestasis, Cerebellar atrophy, Elevated circulating alanine ami...	OMIM:619685
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria, Gastroesophageal reflux	ORPHA:3137
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Osteoporosis, Bone marrow hypocellula...	OMIM:127550
Lathosterolosis	Short nose, Intrahepatic cholestasis, Cerebellar cortical atrophy, Hepatomegaly, Hypoplasia of pe...	ORPHA:46059
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Retinal degeneration, Hyperalaninemia	OMIM:616896
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Osteolysis	ORPHA:1546
Typical Nemaline Myopathy	Fatigable weakness of respiratory muscles, Spinal rigidity, Scoliosis, Facial diplegia, Waddling ...	ORPHA:171436
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Werner Syndrome	Rocker bottom foot, Increased bone mineral density, Osteoporosis, Joint stiffness, Small hand	ORPHA:902
Pelizaeus-Merzbacher Disease	Optic atrophy, Scoliosis, Spasticity, Gait disturbance, Kyphosis, Cerebral cortical atrophy, Shor...	ORPHA:702
Attrv122I Amyloidosis	Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv...	ORPHA:85451
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries	ORPHA:280356
Galloway-Mowat Syndrome 1	Narrow nasal ridge, Cerebellar atrophy, Ataxia, Intrauterine growth retardation, Optic atrophy, D...	OMIM:251300
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Abnormality of the ureter, Cleft palate, Polycystic ovaries, Ventricular sept...	ORPHA:1770
Axial Mesodermal Dysplasia Spectrum	Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Abnormal ...	ORPHA:1834
Cole-Carpenter Syndrome 1	Osteopenia, Reduced bone mineral density, Vertebral compression fracture, Scoliosis, Coronal cran...	OMIM:112240
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Chorea, Rigidity, Ataxia, Hypospadias, Anteverted nares, Progressive spasticity, Depressed nasal ...	OMIM:300260
Peroxisome Biogenesis Disorder 10B	Cataract, Neurogenic bladder, Nephrocalcinosis	OMIM:617370
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebral atrophy, Optic atrophy, Babinski sign, Urinary incontinence, Memory impairment, Resting ...	ORPHA:314404
Cone-Rod Dystrophy 21	Macular atrophy, Retinal dystrophy	OMIM:616502
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovar...	ORPHA:79083
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Aicardi-Goutieres Syndrome 9	Anemia, Scoliosis, Osteoporosis, Hepatosplenomegaly, Hypoalbuminemia, Hemolytic anemia	OMIM:619487
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Renal insuffi...	ORPHA:79312
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero...	OMIM:194080
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Microglossia, Cardiomegaly	OMIM:253250
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Camptodactyly, Osteoporosis, Generalized joint hypermobility	ORPHA:432
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Immunodeficiency 13	Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections	OMIM:615518
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Difficulty walking, Elevated circulating hepatic transaminase concentration, Wide...	OMIM:300280
Flynn-Aird Syndrome	Bone cyst, Scoliosis, Cachexia, Kyphosis, Joint stiffness, Carious teeth	ORPHA:2047
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Bicornuate ute...	OMIM:601186
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Poor head control, Optic atrophy, 3-Methylglutaconic aciduria, Elevated...	OMIM:618329
9Q33.3Q34.11 Microdeletion Syndrome	Inability to walk, Webbed neck, Telecanthus, Highly arched eyebrow, Cerebellar vermis atrophy, Wi...	ORPHA:495818
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Platyspondyly, Vertebral compression fracture, Angulated humerus, Short long bone, Bo...	OMIM:616229
Autosomal Recessive Spastic Paraplegia Type 53	Joint hypermobility, Failure to thrive, Kyphosis	ORPHA:319199
Ciliary Dyskinesia, Primary, 22	Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Nasal polyposis	OMIM:615444
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho...	ORPHA:2978
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Dandy-Walker Malformation With Postaxial Polydactyly	Dandy-Walker malformation, Truncal ataxia, Dilated fourth ventricle, Partial absence of cerebella...	OMIM:220220
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Al Kaissi Syndrome	Postnatal growth retardation, High, narrow palate, Sacral dimple, Torticollis, Telecanthus, Broad...	OMIM:617694
Ciliary Dyskinesia, Primary, 30	Absent outer dynein arms, Nasal congestion, Nasal polyposis	OMIM:616037
Zaki Syndrome	Spastic gait, Hypertonia, Sacral dimple, Wide nose, Cerebellar vermis hypoplasia, Anteverted nare...	OMIM:619648
Refsum Disease, Classic	Elevated circulating phytanic acid concentration, Retinal degeneration, Rod-cone dystrophy, Anosmia	OMIM:266500
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Chikungunya	Periostitis, Arthritis, Synovitis, Joint stiffness, Enthesitis, Stiff interphalangeal joints, Ost...	ORPHA:324625
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Disproportionate short-limb short stature, Hyperlordosis, Kypho...	ORPHA:763
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Kyphoscoliosis, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the han...	OMIM:210730
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Richards-Rundle Syndrome	Joint stiffness, Reduced bone mineral density	ORPHA:1399
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Nasal polyposis, Central nervous system degeneration, Weight loss	ORPHA:183
Cystic Fibrosis	Steatorrhea, Cirrhosis, Pancreatitis, Rectal prolapse, Hepatomegaly, Meconium ileus, Biliary cirr...	OMIM:219700
Trisomy 13	Optic atrophy, High, narrow palate, Scoliosis, Abnormal eyelash morphology, Intrauterine growth r...	ORPHA:3378
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal salivary gland morphology, Hepatomegaly, Chorioretinitis, Opti...	OMIM:181000
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent lower respiratory tract infections, Recurrent aphthous stomatitis, Arteri...	OMIM:233600
Angioedema, Hereditary, 1	Axonal degeneration, Peripheral axonal neuropathy, Intestinal edema, Muscle weakness, Hypoesthesia	OMIM:106100
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Genu valgum, Scoliosis, Osteoporosis, Kyphosis, Joint stiffness, Arachnodactyly, Recurrent fractures	ORPHA:394
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestasis, Leukocytosis, Lymphade...	OMIM:615895
Chromosome 10Q26 Deletion Syndrome	Postnatal growth retardation, Convex nasal ridge, Webbed neck, Broad-based gait, Flared nostrils,...	OMIM:609625
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis	ORPHA:99931
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Short nose, Recurrent infections, Scoliosis, Tremor, High palate, Kyphosis, Synophrys, Ptosis, Do...	OMIM:617061
Budd-Chiari Syndrome	Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Gastroint...	ORPHA:131
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Postnatal growth retardation, Hip osteoarthritis, Scoliosis, Limitation of joint mobility, Hump-s...	OMIM:313400
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme...	OMIM:232200
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level ...	OMIM:212140
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
Pontocerebellar Hypoplasia, Type 10	Kyphoscoliosis, Short nose, Limb hypertonia, Low hanging columella, Highly arched eyebrow, Spasti...	OMIM:615803
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Postnatal growth retardation, Short nose, Hypertonia, Optic nerve hypoplasia, Scoliosis, Spastici...	OMIM:300749
Neutral Lipid Storage Myopathy	Difficulty walking, Chronic pancreatitis, Neck muscle weakness, Elevated circulating hepatic tran...	ORPHA:98908
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Reduced bone mineral density, Metaphyseal chondrodysplasia	ORPHA:83629
Neu-Laxova Syndrome	Rickets, Osteopenia, Scoliosis, Osteoporosis, Flexion contracture, Osteomalacia, Arthrogryposis m...	ORPHA:2671
Familial Paroxysmal Ataxia	Torticollis, Cerebellar vermis atrophy, Dystonia, Ataxia, Hemiplegia	ORPHA:97
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Cryptorchidism, Pyloric stenosis, Ventricular septal defect, Horseshoe kidney	OMIM:218350
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Long nose, Sacral dimple, Recurrent otitis media, Wide nose, Low insertion of columella, Scoliosi...	OMIM:619995
Lethal Kniest-Like Dysplasia	Abnormal cartilage matrix, Flat face, Mesomelic/rhizomelic limb shortening, Severe short-limb dwa...	ORPHA:2347
Developmental Delay With Or Without Dysmorphic Facies And Autism	Highly arched eyebrow, Atrophy/Degeneration affecting the brainstem, Upslanted palpebral fissure,...	OMIM:618454
46,Xx Gonadal Dysgenesis	Osteopenia, Arachnodactyly, Reduced bone mineral density, Osteoporosis of vertebrae	ORPHA:243
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Scoliosis, Osteoporosis, Kyphosis, Flexion contracture, Hip dysplasia, Short foot, Sm...	ORPHA:398069
Phakomatosis Pigmentovascularis	Reduced bone mineral density	ORPHA:2875
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cerebellar atr...	OMIM:124000
Trichothiodystrophy	Ectropion, Gonadal dysgenesis, Cerebral dysmyelination, Recurrent bronchopulmonary infections, Ga...	ORPHA:33364
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short nose, Inferior cerebellar vermis hypoplasia, Difficulty walking, Inability to walk, Scolios...	OMIM:618571
Verheij Syndrome	Cerebral atrophy, Short nose, Optic nerve hypoplasia, Scoliosis, Hemivertebrae, Anteverted nares,...	OMIM:615583
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Retinal atrophy, Developmental cataract, Posterior synechiae of the anterior chamber	OMIM:616722
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Osteoporosis	ORPHA:2326
Marshall-Smith Syndrome	Reduced bone mineral density, Slender long bone, Scoliosis, Bowing of the long bones, Joint hyper...	ORPHA:561
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Coffin-Lowry Syndrome	Optic atrophy, Narrow palate, Hypertonia, Wide nose, Abnormal form of the vertebral bodies, Antev...	ORPHA:192
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Spinocerebellar Ataxia 27A	Limb ataxia, Abnormal vestibulo-ocular reflex, Cerebellar atrophy, Gait ataxia, Postural tremor, ...	OMIM:193003
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Elevated circulating alkaline phosphatase concentration, Inability to walk, Involunta...	OMIM:615716
Cronkhite-Canada Syndrome	Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo...	ORPHA:2930
Congenital Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Precocious puberty in females, Hypertrophic cardio...	ORPHA:528
Hurler Syndrome	Hepatomegaly, Anteverted nares, Gingival overgrowth, Microdontia, Hepatosplenomegaly, Splenomegal...	OMIM:607014
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Nephrotic syndrome, N...	OMIM:619644
Cimdag Syndrome	Cerebral atrophy, Pontocerebellar atrophy, Hepatomegaly, Cholelithiasis, Cerebellar vermis hypopl...	OMIM:619273
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Impaired renal tubular reabsorption...	OMIM:604278
Farber Disease	Short finger, Anemia, Arthritis, Osteoporosis, Thrombocytopenia, Hepatosplenomegaly, Flexion cont...	ORPHA:333
Hardikar Syndrome	Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Cholestasis, Intestinal m...	OMIM:301068
Brucellosis	Chorea, Pericarditis, Splenomegaly, Anterior uveitis, Myocarditis, Septic arthritis, Pneumonia, O...	ORPHA:1304
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Intellectual Developmental Disorder, Autosomal Dominant 43	Poor head control, Low hanging columella, Frontal cortical atrophy, Anteverted nares, High palate...	OMIM:616977
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Anteverted nares, Hydronephrosis, Lobulated tongue, Agenesis of cor...	OMIM:617127
Norrie Disease	Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of...	OMIM:310600
Cardiofaciocutaneous Syndrome 3	Scoliosis, Reduced bone mineral density	OMIM:615279
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Short nose, Cerebellar cortical atrophy, Limb hypertonia, Bulbar palsy, Abnormalit...	ORPHA:521426
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Patent...	OMIM:606003
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Cirrhosis, Pneumocystis carinii pneumonia, Hepatomegaly, Recurrent lowe...	OMIM:308230
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Mosaic Variegated Aneuploidy Syndrome	Acute lymphoblastic leukemia, Clinodactyly of the 5th finger, Osteolysis	ORPHA:1052
Zimmermann-Laband Syndrome 2	Gingival overgrowth, Kyphosis, Short stature, Thick vermilion border, Short neck, Macroglossia, D...	OMIM:616455
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Short nose, Hypoplastic female external genitalia, Anteverted nares, Scoliosis, Long eyelashes, A...	OMIM:618577
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormality of the vertebral column, Vertebral wedging, Increased intervertebral space, Scoliosis...	ORPHA:93314
Heart Defects-Limb Shortening Syndrome	Disproportionate short stature, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal form of ...	ORPHA:1354
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux...	ORPHA:2237
Mitochondrial Complex I Deficiency, Nuclear Type 1	Poor head control, Babinski sign, Hepatomegaly, Hypospadias, Lacticaciduria, Tongue fasciculation...	OMIM:252010
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Pyruvate Dehydrogenase Deficiency	Spasticity, Tremor, High palate, Cerebral palsy, Gait disturbance, Intrauterine growth retardatio...	ORPHA:765
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Babinski sign, Distal sensory impairment, Lower limb spasticity, Spasticity, Poor ...	ORPHA:320375
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:600649
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Tick-Borne Encephalitis	Fatigable weakness of respiratory muscles, Elevated circulating hepatic transaminase concentratio...	ORPHA:297
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascites, Pericardial e...	ORPHA:36412
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Nocardiosis	Scleritis, Liver abscess, Thyroiditis, Meningitis, Lymphadenitis, Severe infection, Pericarditis,...	ORPHA:31204
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Rickets, Osteopenia, Aplasia/hypoplasia of the femur, Broad distal phalanx of finger, Clinodactyl...	ORPHA:2636
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
Arthrogryposis, Distal, Type 5	Triangular face, Scoliosis, High palate, Congenital finger flexion contractures, Kyphosis, Short ...	OMIM:108145
Galloway-Mowat Syndrome 10	Cerebral atrophy, Cerebellar atrophy, Proteinuria, Myoclonus, Diffuse mesangial sclerosis, Stage ...	OMIM:619609
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Triphalangeal thumb, Kyphosis, Osteoporosis, Contracture of the proximal interphalang...	ORPHA:2232
Ciliary Dyskinesia, Primary, 5	Nasal polyposis, Recurrent sinusitis, Chronic rhinitis	OMIM:608647
Filippi Syndrome	Optic atrophy, Wide nose, Paraplegia, Spasticity, Limb dystonia, Short stature, Growth delay, Dow...	ORPHA:3255
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy...	OMIM:616959
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Lateral ventricle dilatation, Male urethral meatus stenosis, Difficulty walking, Hyposp...	ORPHA:464738
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A...	ORPHA:2795
Glycogen Storage Disease Ib	Hyperuricemia, Hyperlipidemia, Osteoporosis, Splenomegaly, Gout, Neutropenia	OMIM:232220
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Anemia, Lymphadenopathy, Ileus, Decreased FOXP3-expressing T cell count, Thrombo...	OMIM:304790
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid...	OMIM:609049
Bone Marrow Failure Syndrome 6	Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow h...	OMIM:618849
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short nose, Hypospadias, Telecanthus, Webbed neck, Anteverted nares, Intrauterine growth retardat...	OMIM:616897
Chromosome 16Q22 Deletion Syndrome	Postnatal growth retardation, Short palpebral fissure, Hypospadias, Highly arched eyebrow, High p...	OMIM:614541
Singleton-Merten Syndrome 2	Osteopenia, Scoliosis, Osteolytic defects of the phalanges of the hand	OMIM:616298
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pyloric stenosis, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Astigmatism, Cataract, Retinal coloboma, Bifid ureter, Nephroblastoma, Renal mal...	ORPHA:500095
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Platyspondyly, Broad ischia, Broad femoral neck, Short palm, Metaphyseal dy...	OMIM:619727
Galloway-Mowat Syndrome 9	Cerebellar atrophy, Focal segmental glomerulosclerosis, Almond-shaped palpebral fissure, Cerebral...	OMIM:619603
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Hypertonia, Sacral dimple, Inability to walk, Highly arched eyebrow, Scoliosis, High palate, Intr...	OMIM:617452
Peho Syndrome	Optic atrophy, Short nose, Palpebral edema, Atrophy/Degeneration affecting the brainstem, Antever...	ORPHA:2836
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Limb hypertonia, Cerebellar vermis hypoplasia, Cerebellar hemisphere hypopla...	OMIM:619909
Ciliary Dyskinesia, Primary, 15	Nasal polyposis, Abnormal axonemal organization of respiratory motile cilia	OMIM:613808
Weill-Marchesani Syndrome 2	Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Scoliosi...	OMIM:608328
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Protein-losing enteropathy, Pancreatic lymphangiectasis, High palate, Ascites, Cryp...	OMIM:235255
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Spina bifida occulta, Cerebellar vermis hypoplasia, Scoliosis, Kyphosis, Cerebral ...	OMIM:618291
Rhabdoid Tumor	Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Neoplasm of the liver	ORPHA:69077
Familial Infantile Myoclonic Epilepsy	Blepharospasm, Cerebellar atrophy, Gait disturbance, Limb myoclonus, Ataxia, Clumsiness	ORPHA:352582
Senior-Loken Syndrome 8	Retinal dystrophy, Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts, Rod-cone d...	OMIM:616307
Combined Oxidative Phosphorylation Deficiency 25	Cerebral atrophy, Short nose, Anteverted nares, Cerebellar atrophy, Aspiration pneumonia, Hypopla...	OMIM:616430
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Anteverted nares, Scoliosis, Hyperlordosis, Vertebral segmentation defect, ...	ORPHA:1797
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Biotinidase Deficiency	Optic atrophy, Decreased circulating biotinidase concentration, Hepatomegaly, Seborrheic dermatit...	OMIM:253260
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Scoliosis, Osteoporosis, Hip dysplasia, Short foot, Small hand	ORPHA:98754
Ciliary Dyskinesia, Primary, 2	Absent inner and outer dynein arms, Nasal polyposis	OMIM:606763
Cinca Syndrome	Reduced bone mineral density, Anemia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:1451
Cryoglobulinemic Vasculitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopa...	ORPHA:91138
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Kyphoscoliosis, Platyspondyly, Osteoporosis, Congenital hip dislocation, Arachnodacty...	OMIM:225400
Leiomyomatosis, Diffuse, With Alport Syndrome	Lenticonus, Hematuria, Nephropathy, Microscopic hematuria, Thickened glomerular basement membrane...	OMIM:308940
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Cerebellar atrophy, Recurrent aspiration pneumonia, Proximal muscle weakness in lower limbs, Rect...	ORPHA:280633
Cockayne Syndrome Type 2	Difficulty walking, Hepatomegaly, Male hypogonadism, Limb hypertonia, Lower limb spasticity, Scol...	ORPHA:90322
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for...	ORPHA:175
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Babinski sign, Inability to walk, Sensory axonal neuropathy, Scoliosis, Exaggerate...	OMIM:609541
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Enlarged kidney, Nephrotic syndrome, Abnormality of retinal pigmentation, Hepatosp...	ORPHA:505248
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Tracheoesophageal fistula, Nodular goiter, Dysphagia, Goiter	ORPHA:142
Stt3A-Cdg	Small scrotum, Cryptorchidism, Cerebellar atrophy, Micropenis	ORPHA:370921
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina...	ORPHA:52427
Cystic Fibrosis	Absent vas deferens, Steatorrhea, Decreased body mass index, Cirrhosis, Rectal prolapse, Meconium...	ORPHA:586
Blau Syndrome	Abnormal salivary gland morphology, Abnormal cranial nerve morphology, Xerostomia, Facial palsy, ...	ORPHA:90340
Zechi-Ceide Syndrome	Short palpebral fissure, Wide nose, Cerebellar vermis hypoplasia, Blepharophimosis, Cleft palate,...	OMIM:612916
Basel-Vanagaite-Smirin-Yosef Syndrome	Cerebral atrophy, Clitoral hypertrophy, Hypospadias, Anteverted nares, Scoliosis, Spasticity, Hig...	OMIM:616449
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells...	OMIM:228300
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia, Blepharophimosis, Horner syndrome, Tongue atrophy	OMIM:141300
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Optic atrophy, Oromotor apraxia, Neurogenic bladder, Spasticity, Cerebellar atrophy, Growth delay...	ORPHA:466934
Trisomy 18P	High, narrow palate, Telecanthus, Highly arched eyebrow, Facial palsy, Intrauterine growth retard...	ORPHA:1715
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly	OMIM:619064
Post-Traumatic Pituitary Deficiency	Osteopenia, Osteoporosis of vertebrae	ORPHA:95619
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating hepatic transaminase concentration, Distal upper limb muscle weakness, Myogl...	OMIM:620138
Blepharonasofacial Malformation Syndrome	Optic atrophy, Telecanthus, Wide nose, Torsion dystonia, Abnormal eyelash morphology, Sparse late...	ORPHA:1252
Trisomy 20P	Abnormal form of the vertebral bodies, Highly arched eyebrow, Incoordination, Kyphosis, Cognitive...	ORPHA:261318
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Protruding tongue, Aortic valve stenosis, Mitral valv...	ORPHA:324410
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Scoliosis, Osteoporosis, Hip dysplasia, Short foot, Small hand	ORPHA:98793
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Cleft palate, Hypoplas...	OMIM:601076
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Prader-Willi Syndrome	Osteopenia, Scoliosis, Osteoporosis, Hip dysplasia, Short foot, Increased susceptibility to fract...	ORPHA:739
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly	OMIM:214900
Mucopolysaccharidosis, Type Vii	Reduced leukocyte beta-glucuronidase activity, Kyphosis, Dermatan sulfate excretion in urine, Sev...	OMIM:253220
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Scoliosis, Osteoporosis, Hip dysplasia, Short foot, Small hand	ORPHA:177904
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Schaaf-Yang Syndrome	Scoliosis, Abnormality of the philtrum, Kyphosis, Camptodactyly, Arthrogryposis multiplex congeni...	OMIM:615547
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Keratoconjunctivitis sicca	ORPHA:79128
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Corneal scarring, Cataract, Buphthalmos, Macular atrophy, Iris coloboma	OMIM:212550
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Difficulty walking, Progressive cerebellar ataxia, Spastic dysarthria, Spinocerebe...	ORPHA:95433
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Scoliosis, Osteoporosis, Hip dysplasia, Short foot, Small hand	ORPHA:177901
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Cerebellar atrophy, Bifid scrotum, Intestinal malrotation, Bifid uvula...	OMIM:270400
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Inability to walk, Telecanthus, Broad-based gait, Anteverted nares, High palate, Long palpebral f...	OMIM:616158
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s...	ORPHA:90797
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Bare Lymphocyte Syndrome, Type I	Nasal polyposis	OMIM:604571
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Recurrent lower respiratory tract infections, Recurrent aphthous stomatitis, Cerebellar vermis hy...	OMIM:615966
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Babinski sign, Gait imbalance, Oculomotor apraxia, Cerebellar vermis atrophy, Head tremor, Urinar...	ORPHA:64753
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi...	OMIM:612714
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bilateral ptosis, Highly arched eyebrow, Anteverted nares, Scoliosis, Kyphosis, Intestinal malrot...	ORPHA:404440
Spinocerebellar Ataxia Type 7	Cerebral atrophy, Babinski sign, Mental deterioration, Dysdiadochokinesis, Cerebellar atrophy, Op...	ORPHA:94147
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Periportal fibrosis, Bone-marrow foam cells, Esopha...	OMIM:278000
Hyperphosphatasia-Intellectual Disability Syndrome	Oculomotor apraxia, Highly arched eyebrow, Upslanted palpebral fissure, Bifid uvula, Ataxia, Myoc...	ORPHA:247262
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Villous atrophy, Lymphadenopathy, Pancytopenia, Decreased proportion...	OMIM:614700
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Cerebral atrophy, Optic atrophy, Limb hypertonia, Scoliosis, Anal atresia, Corpus callosum atroph...	ORPHA:480898
Glutamine Deficiency, Congenital	Short nose, Brain atrophy, Anteverted nares, Neonatal death, Lateral ventricle dilatation, CNS hy...	OMIM:610015
Gillespie Syndrome	Cerebellar atrophy, Ataxia, Postural tremor, Cerebellar hypoplasia, Slurred speech	OMIM:206700
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Argininemia	Spastic gait, Postnatal growth retardation, Hepatomegaly, Portal fibrosis, Reduced erythrocyte ar...	OMIM:207800
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Telecanthus, Sparse eyelashes, Thin skin, Sparse eyebrow, Short stature, Growth d...	ORPHA:75496
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Bohring-Opitz Syndrome	Optic atrophy, Annular pancreas, Inability to walk, Cholelithiasis, Recurrent infections, Dandy-W...	ORPHA:97297
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Anosmia, Nasal polyposis, Chronic rhinitis, Asplenia	OMIM:244400
Early Infantile Epileptic Encephalopathy	Poor head control, Anteverted nares, Spasticity, Tremor, Cerebellar atrophy, Episodic ataxia, Ure...	ORPHA:1934
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Jacobsen Syndrome	Optic atrophy, Short nose, Annular pancreas, Hypospadias, Telecanthus, Labial hypoplasia, Antever...	OMIM:147791
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Nephropathy, Focal segmental glomerulosclerosis, Intention tremor, Action tre...	OMIM:254900
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut...	OMIM:613179
Intellectual Developmental Disorder, Autosomal Dominant 65	Clumsiness, Anteverted nares, Synophrys, Ataxia, Thin eyebrow, Agenesis of corpus callosum, Atten...	OMIM:619320
Fountain Syndrome	Abnormal palate morphology, Thick lower lip vermilion, Craniofacial hyperostosis, Spina bifida oc...	ORPHA:3219
Crisponi Syndrome	Scoliosis, Narrow mouth, High palate, Kyphosis, Limitation of joint mobility, Camptodactyly of fi...	ORPHA:1545
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Lower limb spasticity, Cerebellar vermis atrophy, Cerebral palsy, Progressive langu...	ORPHA:163681
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Abnormal form of the vertebral bodies, High palate, Limitation of joint mobility, Kyp...	ORPHA:3098
Rett Syndrome	Truncal ataxia, Scoliosis, Spasticity, Kyphosis, Gait apraxia, Cerebral cortical atrophy, Gait at...	OMIM:312750
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Enterocolitis, Thrombocytopenia, Splenomegaly, Reduced natural killer cell ...	OMIM:616050
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Iron deficiency anemia, Osteoporosis	ORPHA:309031
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Vacterl/Vater Association	Abnormality of the gallbladder, Ectopic kidney, Hypospadias, Hypoplasia of penis, Anorectal anoma...	ORPHA:887
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Renal phosphate wasting, Pancytopenia, Gastroesophageal ref...	ORPHA:562
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Transverse vaginal septum, Decreased response to growth hormone stimulation test, Absence of Sten...	OMIM:129900
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Tracheoesophageal fistula, Pyloric sten...	ORPHA:379
Cri-Du-Chat Syndrome	Optic atrophy, Hypertonia, Difficulty walking, Hypospadias, Scoliosis, High palate, Short attenti...	OMIM:123450
8P Inverted Duplication/Deletion Syndrome	Hypertonia, High, narrow palate, Dandy-Walker malformation, Scoliosis, Progressive spastic parapl...	ORPHA:96092
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Short nose, Highly arched eyebrow, Anteverted nares, Long palpebral...	OMIM:243310
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, Abnormal gastric mucosa...	ORPHA:1876
Cranioectodermal Dysplasia 1	Fibular hypoplasia, Radial deviation of finger, Broad distal phalanges of all fingers, Hypocalcem...	OMIM:218330
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Hypoplasia of penis, Abnormal intestine morphology...	ORPHA:1606
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Reduced bone mineral density, Joint stiffness, Flexion ...	ORPHA:1979
19P13.12 Microdeletion Syndrome	Hypospadias, Narrow nasal bridge, Anteverted nares, Scoliosis, Kyphosis, Synophrys, Precocious pu...	ORPHA:254346
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Isolated Aniridia	Cataract, Peters anomaly, Aniridia	ORPHA:250923
Frontonasal Dysplasia 2	Short palpebral fissure, Telecanthus, Cleft ala nasi, Cerebellar vermis hypoplasia, Anteverted na...	OMIM:613451
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Aplasia of the uterus, Tracheoesophageal fistula, Delayed CNS myelination, In...	OMIM:614083
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe...	ORPHA:829
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Systemic Sclerosis	Myocarditis, Acute kidney injury, Abnormal stomach morphology, Abnormality of the gastrointestina...	ORPHA:90291
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Increased circulating IgA level, Osteoporosis, Increase...	ORPHA:186
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steatorrhea, S...	OMIM:607765
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Underdeveloped nasal alae, Broad columella, Thick vermilion border, Retinal degeneration, Rod-con...	OMIM:250410
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative dis...	ORPHA:79456
Nephronophthisis 9	Retinal degeneration	OMIM:613824
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h...	OMIM:263300
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Palpebral edema, Scoliosis, Kyphosis, Bulbous nose, Growth delay, Downslanted palpebr...	ORPHA:261144
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Hepatic fibrosis, Bile duct proliferation, Polycystic liver disease, Conjugated hyperbi...	OMIM:208500
Ruvalcaba Syndrome	Limited elbow extension, Delayed puberty, Dental crowding, Scoliosis, Kyphosis, Short stature, Cr...	OMIM:180870
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hyperlipidemia, Osteoporosis, Increased susceptibility to fractures	ORPHA:189427
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Scoliosis, Hyperlordosis, Cerebellar atrophy, High palate, Kyphosis, Gait ataxia, Cerebral cortic...	OMIM:617011
Smith-Mccort Dysplasia 1	Beaking of vertebral bodies, Scoliosis, Limitation of joint mobility, Kyphosis, Short stature, At...	OMIM:607326
Dyskeratosis Congenita	Anemia, Scoliosis, Osteoporosis, Bone marrow hypocellularity, Coarse metaphyseal trabecularizatio...	ORPHA:1775
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, High palate, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Mucopolysaccharidosis, Type Ii	Recurrent otitis media, Hepatomegaly, Mild short stature, Intestinal pseudo-obstruction, Kyphosis...	OMIM:309900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplastic male ex...	OMIM:236670
17Q11 Microdeletion Syndrome	Osteopenia, Diaphyseal dysplasia, Beaking of vertebral bodies T12-L3, Scoliosis, Osteoporosis, Ky...	ORPHA:97685
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Cerebral atrophy, Broad eyebrow, Highly arched eyebrow, High palate, Kyphosis, Corpus callosum at...	OMIM:619244
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Choanal atresia, Cleft palate, Wide mouth, Abnormal parotid glan...	OMIM:154500
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl...	OMIM:619151
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Gastroesophageal reflux, Splenic cyst, Ovarian cyst, ...	OMIM:618188
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, High palate, Thrombocytopenia, Hepatosplenomegaly, Lef...	ORPHA:79330
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C...	ORPHA:99812
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Transverse vaginal septum, Decreased response to growth hormone stimulation test, Absence of Sten...	OMIM:604292
Heart And Brain Malformation Syndrome	Cerebral atrophy, Global brain atrophy, High, narrow palate, Limb hypertonia, Cerebellar vermis h...	OMIM:616920
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Ascites, Hypertrophic cardiomyopathy	OMIM:614702
D-Bifunctional Protein Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cerebral dysmyelination, G...	OMIM:261515
Koolen-De Vries Syndrome	Ureteral duplication, Kyphosis, Narrow palate, Hypospadias, Scoliosis, Short stature, Cleft palat...	ORPHA:96169
Late-Onset Retinal Degeneration	Drusen, Choroidal neovascularization, Patchy atrophy of the retinal pigment epithelium, Macular d...	ORPHA:67042
Bilateral Polymicrogyria	Abnormal glossopharyngeal nerve morphology, Spastic hemiparesis, Cerebellar ataxia associated wit...	ORPHA:268940
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ...	OMIM:276700
Hypomelanosis Of Ito	Cerebral atrophy, Scoliosis, Epicanthus, Kyphosis	OMIM:300337
Scapuloperoneal Spinal Muscular Atrophy	Diaphragmatic weakness, Peroneal muscle weakness, Distal sensory impairment, Torticollis, Broad-b...	OMIM:181405
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Scoliosis, Hyperlordosis, Thoracic kyphosis, Thick nasal alae, Short ...	ORPHA:557003
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Lumbar Syndrome	Hypospadias, Ectopic anus, Vesicoureteral reflux, Bifid scrotum, Anal atresia, Bifid uterus, Blad...	ORPHA:83628
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Tarp Syndrome	Optic atrophy, Short palpebral fissure, Cerebellar vermis hypoplasia, Meckel diverticulum, Anteve...	OMIM:311900
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Cataract, Stage 5 chronic kid...	OMIM:268315
Glass Syndrome	Generalized osteoporosis, Arachnodactyly, Camptodactyly, Anterior tibial bowing	OMIM:612313
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Reduced bone mineral density, Recurrent fractures	ORPHA:137608
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Demyelinating peripheral neuropathy, Anterior pituitary hypoplasia,...	ORPHA:453533
Alg9-Cdg	Enlarged kidney, Hypoplasia of the ovary, Low insertion of columella, Cerebellar atrophy, Shallow...	ORPHA:79328
Trigonocephaly 1	Short nose, High, narrow palate, Lumbar hemivertebrae, Long penis, Meckel diverticulum, Synophrys...	OMIM:190440
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration, Elevated circulating creatine kinase concentration	OMIM:615249
Thyroid Lymphoma	Goiter, Lymphadenopathy, Dysphagia	ORPHA:97285
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Macular atrophy	OMIM:610356
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Scheie Syndrome	Wide nose, Retinal degeneration, Depressed nasal bridge	OMIM:607016
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Igg4-Related Kidney Disease	Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem...	ORPHA:449395
Aspartylglucosaminuria	Beaking of vertebral bodies, Abnormal vertebral morphology, Abnormal cortical bone morphology, An...	ORPHA:93
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Reduced bone mineral density, Anemia, Pancytopenia, Hypocalcemia, Scoliosis,...	OMIM:613658
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Aicardi-Goutieres Syndrome 7	Skin rash, Tetraplegia, Cerebellar atrophy, Chilblains, Spastic tetraparesis, Splenomegaly, Intra...	OMIM:615846
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Neoplasm of the thymus, Renal...	ORPHA:744
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Ullrich Congenital Muscular Dystrophy 1A	Spinal rigidity, Distal joint hypermobility, Scoliosis, High palate, Kyphosis, Failure to thrive,...	OMIM:254090
Intellectual Developmental Disorder, Autosomal Dominant 70	Short palpebral fissure, Chiari type I malformation, Low hanging columella, Highly arched eyebrow...	OMIM:620157
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Enterocolit...	ORPHA:2686
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Lissencephaly, X-Linked, 2	Gliosis, Spasticity, High palate, Decreased testicular size, Prominent nasal bridge, Agenesis of ...	OMIM:300215
Papa Syndrome	Crohn's disease, Proteinuria, Lymphadenopathy	ORPHA:69126
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Cerebral atrophy, Kyphoscoliosis, Short nose, Postnatal growth retardation, Hypospadias, Antevert...	OMIM:301040
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Neoplasm of the rectum, Colon cancer, Ovarian cyst, Adenomatous coloni...	ORPHA:454840
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Kyphoscoliosis, Congenital kyphoscoliosis, Shoulder dislocation, Scoliosis, Osteoporo...	ORPHA:536545
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Postencephalitic Parkinsonism	Bradykinesia, Bilateral ptosis, Babinski sign, Akinesia, Generalized muscle weakness, Oculogyric ...	ORPHA:97349
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Subaortic Stenosis-Short Stature Syndrome	Scoliosis, Synostosis of carpal bones, Microdontia, Kyphosis, Short stature, Obesity, Short neck	ORPHA:3191
Nephroblastoma	Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Kenny-Caffey Syndrome, Type 2	Anemia, Transient hypophosphatemia, Abnormality of the medullary cavity of the long bones, Increa...	OMIM:127000
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Hypoplasia of penis, Scoliosis, Tremor, High palate, Kyphosis, Synophrys, Decre...	ORPHA:85293
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Cleft palate, Tetralogy of Fallot, Thrombocytopenia, Horseshoe kidney, Abn...	ORPHA:3320
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Incr...	OMIM:300048
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Bifid scrotum, Bicuspid aortic valve, Hypospadias, Azoospermia, Urogen...	ORPHA:1772
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph...	OMIM:130650
Leukodystrophy, Hypomyelinating, 12	Optic atrophy, Neurogenic bladder, Spasticity, Cerebellar atrophy, Delayed myelination, Cerebral ...	OMIM:616683
9P13 Microdeletion Syndrome	Recurrent otitis media, External genital hypoplasia, Abnormality of cartilage of external ear, Hi...	ORPHA:324313
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of the lym...	ORPHA:538
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Hypocalcemic seizures, Anemia, Decreased circulating IgG level, Ab...	OMIM:612301
Adrenomyodystrophy	Reduced bone mineral density	ORPHA:977
Familial Mediterranean Fever	Intestinal obstruction, Gastrointestinal infarctions, Pancreatitis, Lymphadenopathy, Leukocytosis...	ORPHA:342
Müllerian Aplasia And Hyperandrogenism	Cleft palate, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Short nose, Oculomotor apraxia, Apraxia, Appendicular spasticity, Scoliosis, Thora...	OMIM:620250
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Telecanthus, Broad-based gait, Anteverted nares, High palate, Short attention span, Exaggerated s...	ORPHA:438216
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Short palpebral fissure, Short nose, Hepatomegaly, Highly arched eyebrow, Impaired pain sensation...	OMIM:619005
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia	OMIM:200995
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Aarskog-Scott Syndrome	Delayed puberty, Short nose, Anteverted nares, Scoliosis, Testicular atrophy, Bilateral cryptorch...	OMIM:305400
Acute Transverse Myelitis	Urinary incontinence, Muscle flaccidity, Upper limb muscle weakness, Impaired vibratory sensation...	ORPHA:139417
Lymphatic Filariasis	Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ...	ORPHA:2035
Donohue Syndrome	Clitoral hypertrophy, Long penis, Cholestasis, Precocious puberty, Ovarian cyst, Hepatic fibrosis...	OMIM:246200
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Tip-toe gait, Difficulty walking, Exercise-induced myoglobinuria, Scoliosis, Hyperlordosis, Waddl...	OMIM:607155
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Supernumerary nipple, Scoliosis, Gait disturbance, Synophrys, Ptosis, Downslanted palpebral fissu...	OMIM:620098
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Babinski sign, Hypertonia, Short nose, Bulbar palsy, Abnormality of extrapyramidal...	OMIM:617527
Microcephaly 26, Primary, Autosomal Dominant	Dysplastic corpus callosum, Short nose, Scoliosis, Spastic tetraparesis, Protruding tongue, Long ...	OMIM:619179
Hypoparathyroidism, Familial Isolated, 1	Cataract, Nephrocalcinosis	OMIM:146200
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Thanatophoric Dysplasia	Flat face, Disproportionate short-limb short stature, Kyphosis, Joint stiffness, Abnormal sacroil...	ORPHA:2655
Neuromuscular Oculoauditory Syndrome	Poor head control, Peripheral hypomyelination, Sensory axonal neuropathy, Unsteady gait, Multiple...	OMIM:618733
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Abnormal CNS myelination, Cerebellar atrophy, Short stature, Ataxia, Hypogonadism	OMIM:610651
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Decreased proportion of me...	OMIM:618394
Intellectual Disability, Buenos-Aires Type	Cuboid-shaped thoracolumbar vertebral bodies, Reduced bone mineral density, Clinodactyly of the 5...	ORPHA:3079
Cowden Syndrome 1	High palate, Furrowed tongue, Hamartomatous polyposis, Varicocele, Colonic diverticula, Ovarian c...	OMIM:158350
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Pseudoachondroplasia	Beaking of vertebral bodies, Limited elbow extension, Childhood onset short-limb short stature, D...	OMIM:177170
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Elevated urinary 3-hydroxybutyric acid, Hepati...	ORPHA:42
Wolf-Hirschhorn Syndrome	Chronic otitis media, Abnormality of the gallbladder, Abnormal form of the vertebral bodies, High...	ORPHA:280
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Nephrotic ...	OMIM:612783
Rothmund-Thomson Syndrome, Type 2	Kyphoscoliosis, Osteoporosis, Congenital hip dislocation, Short palm, Short thumb, Short foot, Sm...	OMIM:268400
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Camptodactyly, Osteoporosis, Kyphosis, Arachnodactyly, Long toe, Slender toe, Rec...	ORPHA:3063
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Optic atrophy, Memory impairment, Spasticity, Cerebellar atrophy, Cataplexy, Ataxia, Dementia	OMIM:604121
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, High palate, Anal atresia, Hypergonadotropic hypogo...	OMIM:154230
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Hematuria, Lymphadenopathy, Lymphopenia, Ascites, Neph...	ORPHA:93552
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Scoliosis, High palate, Kyphosis, Slender build	OMIM:300676
White-Sutton Syndrome	Optic atrophy, Incoordination, Subcortical cerebral atrophy, Cerebellar atrophy, High palate, Hyp...	ORPHA:468678
Cancer-Associated Retinopathy	Optic atrophy, Granular macular appearance, Neoplasm of the pancreas, Pancreatic adenocarcinoma, ...	ORPHA:71505
Braddock-Carey Syndrome 1	Telecanthus, Anteriorly placed anus, Anteverted nares, Hyperlordosis, Growth delay, Downslanted p...	OMIM:619980
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Progressive proxima...	ORPHA:368
Progressive Non-Infectious Anterior Vertebral Fusion	Thin vermilion border, Spinal rigidity, Abnormal intervertebral disk morphology, Short philtrum, ...	ORPHA:2062
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Aganglionic megacolon, Highly arched eyebrow, Athetosis, Upslanted palpebral fissure,...	OMIM:239300
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly	OMIM:235555
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Lacrimoauriculodentodigital Syndrome	Orofacial cleft, Lacrimal gland aplasia, Abnormal salivary gland morphology, Abnormal dental enam...	ORPHA:2363
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Cerebral atrophy, Decreased response to growth hormone stimulation test, Limb hypertonia, Recurre...	OMIM:618922
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Caudal appendage, Anal stenosis, Hypospadias, Bilateral choanal atres...	ORPHA:314679
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Harrod Syndrome	Scoliosis, Narrow mouth, High palate, Kyphosis, Failure to thrive, Joint hypermobility, Dental ma...	ORPHA:2115
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration, Hepatomegaly, Increased serum beta-hexosaminidase	OMIM:252600
Autosomal Recessive Spastic Paraplegia Type 11	Abnormality of pattern visual evoked potentials, Orthostatic hypotension, Frontal cortical atroph...	ORPHA:2822
3M Syndrome	Increased vertebral height, Triangular face, Joint hypermobility, Delayed eruption of teeth, Abno...	ORPHA:2616
Aniridia 3	Cataract, Aniridia	OMIM:617142
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Upslanted palpebral fissure, Recurrent sinusitis, Decreased response to gr...	OMIM:213980
Congenital Disorder Of Deglycosylation 1	Scoliosis, Hyperalaninemia, Osteoporosis, Elevated circulating alpha-fetoprotein concentration, S...	OMIM:615273
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Anemia, Hyperuricemia, Chronic neutropenia, Hyperlipidemia, Ost...	ORPHA:79259
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal...	ORPHA:79124
Schinzel-Giedion Syndrome	Kyphoscoliosis, Shallow orbits, Hypertonia, Aganglionic megacolon, Hypospadias, Scoliosis, Ependy...	ORPHA:798
Noonan Syndrome 6	Bilateral ptosis, Webbed neck, Long eyebrows, Short stature, Growth delay, Downslanted palpebral ...	OMIM:613224
Lethal Congenital Contracture Syndrome 10	Narrow palate, High palate, Hypoplasia of the thymus, Ventricular septal defect, Cardiomegaly, Ov...	OMIM:617022
Chromosome 14Q11-Q22 Deletion Syndrome	Delayed CNS myelination, Optic atrophy, Poor head control, Hypertonia, Renal tubular acidosis, Pr...	OMIM:613457
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Gastritis, Villous atrophy, Atrial septal defect,...	ORPHA:84064
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, High palate, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Jung Syndrome	Telecanthus, Abnormal form of the vertebral bodies, Cerebellar hypoplasia, Recurrent respiratory ...	ORPHA:2321
Intellectual Disability-Developmental Delay-Contractures Syndrome	Scoliosis, Limitation of joint mobility, Kyphosis, Congenital foot contractures	ORPHA:3454
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Kyphosis, Premature thelarche, Ataxia, Intrauterine growth retardation, Decreased response to gro...	ORPHA:268261
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Hyperlordosis, Cerebral palsy, Ataxia, Delayed CNS myelination, Tip-toe gait, Sacral dimple, Ante...	OMIM:619950
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Palpebral edema, Optic nerve hypoplasia, Positive Romberg sign, Hyperlordosis, Dermatochalasis, R...	ORPHA:221139
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen, Abnormality of ...	ORPHA:33276
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Megalocornea, Mucopolysacchariduria, Splenomegaly, Cardiomegaly, O...	OMIM:252500
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess, Midgut malrotation, Chronic n...	ORPHA:100079
Retinitis Pigmentosa 23	Absent foveal reflex, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment e...	OMIM:300424
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal sensory impairment, Wide nose, Broad-based gait, Distal muscle weakness, Downslanted palpe...	ORPHA:477817
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, External ophthalmoplegia, Spasticity, Cerebellar atrophy, Growth delay, Muscle wea...	ORPHA:485421
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m...	ORPHA:1916
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hypertonia, Hepatomegaly, Scoliosis, Kyphosis, Depressed nasal ridge...	OMIM:230500
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Cone-Rod Dystrophy 8	Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re...	OMIM:605549
Arthrogryposis, Distal, Type 4	Osteopenia, Camptodactyly of 2nd-5th fingers, Scoliosis, Camptodactyly, Kyphosis, Lumbar scoliosi...	OMIM:609128
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney, Cataract	OMIM:261740
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Enlarged cerebellum, Bilateral ptosis, Hypospadias, Oculomotor apraxia, Anteverted nares, Synophr...	ORPHA:477993
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Ventricular septal hypertrophy, Clitoral hypertrophy, Acute pancreatitis...	OMIM:269700
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Bile du...	OMIM:613812
Okamoto Syndrome	Urinary incontinence, Anal stenosis, Abnormal left ventricle morphology, Gastroesophageal reflux,...	ORPHA:2729
Oligoarticular Juvenile Idiopathic Arthritis	Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Severe post...	ORPHA:85410
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Hypertonia, Spasticity, Cerebellar atrophy, Exaggerated startle response, Epiblepharon, Short sta...	OMIM:618367
Chromosome 19Q13.11 Deletion Syndrome, Distal	Postnatal growth retardation, Short palpebral fissure, Short nose, Hypospadias, Recurrent infecti...	OMIM:613026
Ménétrier Disease	Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc...	ORPHA:2494
Marshall-Smith Syndrome	Kyphoscoliosis, Highly arched eyebrow, Optic nerve hypoplasia, Glossoptosis, Kyphosis, Shallow or...	OMIM:602535
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Cowden Syndrome 6	High palate, Furrowed tongue, Hamartomatous polyposis, Varicocele, Colonic diverticula, Ovarian c...	OMIM:615109
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ...	OMIM:258040
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus	OMIM:612651
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Global brain atrophy, High, narrow palate, Hypoparathyroidism, Congenital megaureter, Hypercalciu...	ORPHA:369837
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Slc39A8-Cdg	Poor head control, Inability to walk, Disproportionate short-limb short stature, Recurrent infect...	ORPHA:468699
Wilson Disease	Anemia, Decreased circulating ceruloplasmin concentration, Joint hypermobility, Hypouricemia, Hyp...	OMIM:277900
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Cone-Rod Dystrophy 2	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ...	OMIM:120970
Macrocephaly/Autism Syndrome	Hepatomegaly, High palate, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Abnormal CNS myelination, Highly arched eyebrow, Spastic tetraparesis, Corpus callosum atrophy, C...	OMIM:620371
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Periventricular Nodular Heterotopia	Pyloric stenosis, Abnormal heart valve morphology, Gastroesophageal reflux	ORPHA:98892
Cowden Syndrome 5	High palate, Furrowed tongue, Hamartomatous polyposis, Colonic diverticula, Ovarian cyst, Goiter,...	OMIM:615108
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Reduced bone mineral density, Anemia, Lymphopenia, Agammaglobulin...	ORPHA:935
Koolen-De Vries Syndrome Due To A Point Mutation	Spondylolisthesis, Hyperlordosis, Kyphosis, Optic atrophy, Cervical spinal canal stenosis, Decrea...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spondylolisthesis, Hyperlordosis, Kyphosis, Optic atrophy, Cervical spinal canal stenosis, Decrea...	ORPHA:363958
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Hepatomegaly, Thick lower lip vermilion, Tooth malposition, Hypocalcemia, Retinal ...	ORPHA:2785
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, High palate, Splenomegaly, Mitral valve prolapse...	ORPHA:251066
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Non-Distal Deletion 10Q	Gait disturbance, Synophrys, Cognitive impairment, Ptosis, Ataxia, Epicanthus, Upslanted palpebra...	ORPHA:1581
Proteus-Like Syndrome	Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly	ORPHA:2969
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyperkalemia, Reduced bone mineral density, Abnormal circulating cholesterol concentration, Osteo...	ORPHA:168558
Menkes Disease	Abnormal metaphysis morphology, Tarsal synostosis, Bowing of the long bones, Osteoporosis, Joint ...	ORPHA:565
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Short nose, Medial flaring of the eyebrow, Hypospadias, Scoliosis, High palate, Kyphos...	OMIM:617602
Oculoskeletodental Syndrome	Hepatomegaly, Protein-losing enteropathy, Hypercalciuria, Cryptorchidism, Mucopolysacchariduria, ...	OMIM:618440
Acute Zonal Occult Outer Retinopathy	Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac...	ORPHA:284454
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Nephrolithiasis, Cardiomyopath...	OMIM:608594
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Herpes simplex encephalitis, Recurrent aphthous stomatitis	OMIM:614850
Osteogenesis Imperfecta, Type I	Osteopenia, Femoral bowing, Biconcave flattened vertebrae, Hip dysplasia, Joint hypermobility, Fi...	OMIM:166200
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Abnormal heart morphology, Thrombocytopenia,...	ORPHA:398124
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Congenital Tracheal Stenosis	Meckel diverticulum, Abnormal gastrointestinal tract morphology, Tracheoesophageal fistula, Abnor...	ORPHA:141127
Intellectual Developmental Disorder, Autosomal Dominant 54	Poor head control, Hyperkinetic movements, Inability to walk, Athetoid cerebral palsy, Lower limb...	OMIM:617799
Galloway-Mowat Syndrome 3	Cerebral atrophy, Glomerular sclerosis, Spasticity, Cerebellar atrophy, High palate, Nephrotic sy...	OMIM:617729
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Decreased pineal volume, Cerebellar atrophy, Focal segmental glomerulosclerosis, Nephrotic syndro...	OMIM:301108
Fryns Syndrome	Ureteral duplication, Meckel diverticulum, Bifid scrotum, Intestinal malrotation, Aganglionic meg...	OMIM:229850
20Q11.2 Microduplication Syndrome	Short nose, Palpebral edema, Sacral dimple, Abnormal nasal bridge morphology, Anteverted nares, L...	ORPHA:363659
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyperkalemia, Reduced bone mineral density, Abnormal circulating cholesterol concentration, Osteo...	ORPHA:289548
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Prolactinoma	Osteopenia, Osteoporosis	ORPHA:2965
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia, Pathologic fracture, Osteoporosis	OMIM:307030
Akt2-Related Familial Partial Lipodystrophy	Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:79085
Retinitis Pigmentosa 60	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:613983
Ruvalcaba Syndrome	Delayed puberty, Short nose, Hematuria, Abnormal vertebral epiphysis morphology, Scoliosis, Kypho...	ORPHA:3121
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Anal stenosis, Abnormal...	ORPHA:322
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Enlarged kidney	ORPHA:276280
Stickler Syndrome, Type I	Beaking of vertebral bodies, Spondylolisthesis, Arthritis, Scoliosis, Kyphosis, Morbus Scheuerman...	OMIM:108300
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Leukocyte Adhesion Deficiency Type Ii	Palpebral edema, Severe periodontitis, Lower limb hypertonia, Ataxia, Intrauterine growth retarda...	ORPHA:99843
Omodysplasia 2	Recurrent otitis media, Hypospadias, Labial hypoplasia, Scoliosis, Bifid nasal tip, Dyspareunia, ...	OMIM:164745
Meckel Syndrome 12	Anteverted nares, Ureteral hypoplasia, Renal hypoplasia, Antecubital pterygium, Agenesis of cereb...	OMIM:616258
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholest...	ORPHA:77293
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis	ORPHA:435651
Xp22.13P22.2 Duplication Syndrome	Polycystic ovaries, High palate, Macroorchidism	ORPHA:284180
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Scoliosis, Hemivertebra...	ORPHA:2916
Boutonneuse Fever	Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency, Cervical lymphadenopathy	ORPHA:83313
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Anal atresia, Bifid uterus, Crossed fus...	OMIM:617466
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Ileal Neuroendocrine Tumor	Lymphadenopathy, Iron deficiency anemia, Tricuspid stenosis, Small intestine carcinoid, Pulmonic ...	ORPHA:100078
Cone-Rod Dystrophy 10	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:610283
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Joint contracture of the 5th finger, Scoliosis, Kyphosis, Short stature, Camptodactyly of finger,...	ORPHA:1883
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Increased B cell count, Increased T cell ...	ORPHA:98813
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short nose, Urinary incontinence, Recurrent infections, Slanting of the palpebral fissure, Scolio...	ORPHA:476126
Ulnar-Mammary Syndrome	Hypoplasia of penis, Breast aplasia, Ectopic anus, Hypoplastic nipples, Anal atresia, Cryptorchid...	ORPHA:3138
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Spina bifida occulta, Broad femoral neck, Thickened cortex of long bones, Short foot,...	ORPHA:488434
Autoimmune Hepatitis	Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Fulmin...	ORPHA:2137
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Orofacial cleft, Kyphosis, Intestinal malrotation, Incomplete cleft of the upper lip, Deep philtrum	ORPHA:77300
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Cor triatriatum, High palate, Hypop...	OMIM:612541
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Zellweger Syndrome	Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, High palate, Cryptorchidism, Pyloric s...	ORPHA:912
Hypotrichosis With Juvenile Macular Degeneration	Abnormality of macular pigmentation, Macular degeneration	ORPHA:1573
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Kyphosis, Severe short stature, Aganglionic megacolon, Choanal atresia, Thin eyebrow, ...	ORPHA:2273
Cataract 20, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract	OMIM:116100
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Rauch-Steindl Syndrome	Postnatal growth retardation, Sacral dimple, Hepatomegaly, Telecanthus, Highly arched eyebrow, Al...	OMIM:619695
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Abnormal dental morphology, Short stature, Sho...	ORPHA:2522
Oculocerebral Hypopigmentation Syndrome, Preus Type	Reduced bone mineral density, Abnormal hip bone morphology, Arachnodactyly, Abnormality of neutro...	ORPHA:2720
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, High, narrow palate, Rena...	ORPHA:228308
Marden-Walker Syndrome	Abnormal form of the vertebral bodies, Kyphosis, Bifid uvula, Severe short stature, Intrauterine ...	ORPHA:2461
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Flared metaphysis, Increased bone mineral density, Sandwich appearance of vertebral bodies, Coars...	OMIM:620558
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Nephrotic syndrome, ...	OMIM:146255
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Sclerosteosis 1	Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular bones,...	OMIM:269500
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Short philtrum, Scoliosis, Abnormality of the dentition, Kyphosis, Short stature, Cleft palate, S...	ORPHA:261190
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Asymmetric septal hypertrophy, Dysphagia, Splenomegaly, Heparan sulfate excretion i...	OMIM:252930
Atypical Werner Syndrome	Hypertriglyceridemia, Rocker bottom foot, Reduced bone mineral density, Osteolytic defects of the...	ORPHA:79474
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Hypoplasminogenemia	Duodenal ulcer, Abnormal fallopian tube morphology, Nephrolithiasis, Cervicitis, Abnormality of t...	ORPHA:722
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short philtrum, Scoliosis, High palate, Everted lower lip vermilion, Kyphosis, Short ...	ORPHA:2479
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	High, narrow palate, Joint hypermobility, Scoliosis, Kyphosis	ORPHA:2181
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Cholestasis, Microdontia, Attenuation of retinal blood vessels, Bifid uvula, Wide mouth, Accessor...	OMIM:266920
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Pyloric stenosis, High palate, Bilateral cryptorchidism	ORPHA:314575
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Hypoplasia of penis, Narrow nasal bridge, Kyphosis, Short stature, Aplasia/Hypoplasia of the eyeb...	ORPHA:3082
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Increased hepatic glycogen content, Hepatitis, Chronic he...	OMIM:614921
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Short palpebral fissure, Sacral dimple, Dandy-Walker malformation, Scoliosis, Unilateral breast h...	OMIM:300968
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod...	ORPHA:2311
X-Linked Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Proximal muscle weakness in upper limbs, Spinal rigidity, Scoliosis, Hyperlordosis,...	ORPHA:98863
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro...	ORPHA:158061
Multiple Endocrine Neoplasia Type 1	Reduced bone mineral density, Hypercalcemia, Osteolysis, Increased susceptibility to fractures	ORPHA:652
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Sacral dimple, Anteverted nares, Scoliosis, Clitoral hypoplasia, Short stature, Cleft p...	OMIM:616894
Lateral Meningocele Syndrome	Chiari type I malformation, Telecanthus, Scoliosis, Neurogenic bladder, High palate, Kyphosis, Bi...	OMIM:130720
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Abnormality of the gallbladder, Abnormal form of the vertebral bodies, Hypo...	ORPHA:818
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Dysphagia, Car...	OMIM:608013
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Skin Creases, Congenital Symmetric Circumferential, 1	Short palpebral fissure, Dandy-Walker malformation, Cerebellar vermis atrophy, Hypoplastic nipple...	OMIM:156610
Genitopalatocardiac Syndrome	Abnormality of the gallbladder, Hypospadias, Scoliosis, Kyphosis, Male pseudohermaphroditism, Dow...	ORPHA:2075
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration	ORPHA:168549
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Acute pancreatitis, Cardiomyopathy, Proteinuria, Polycystic ovaries, Hep...	ORPHA:79086
Thanatophoric Dysplasia Type 2	Flat face, Limitation of joint mobility, Kyphosis, Short stature, Platyspondyly, Joint hypermobility	ORPHA:93274
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Tented philtrum, Anteverted nares, Absent scrotum, Smooth philtrum, Long philtrum, Retinal degene...	OMIM:618479
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Genu valgum, Osteolytic defects of the phalanges...	OMIM:182250
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Weaver Syndrome	Hypertonia, Scoliosis, Spasticity, Poor fine motor coordination, Kyphosis, Downslanted palpebral ...	OMIM:277590
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level...	OMIM:612964
Malakoplakia	Prostate neoplasm, Hematuria, Neoplasm of the rectum, Dysuria, Urinary hesitancy, Urinary urgency...	ORPHA:556
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo...	ORPHA:263665
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Lymphadenopathy, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, A...	ORPHA:32960
Cataract 31, Multiple Types	Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract	OMIM:605387
Achondroplasia	Limited elbow extension, Cervical spinal canal stenosis, Disproportionate short stature, Rhizomel...	ORPHA:15
Trisomy 8P	Short nose, Annular pancreas, Sacral dimple, Cleft palate, Dandy-Walker malformation, Anteverted ...	ORPHA:264450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Cholestatic liver disease, Cirrhosis, Hepatomegaly, Accessory spleen, Micro...	OMIM:619418
Myasthenic Syndrome, Congenital, 20, Presynaptic	Neck muscle weakness, Fatigable weakness, Bulbar palsy, Scoliosis, Facial palsy, Kyphosis, Ptosis...	OMIM:617143
Neuroendocrine Tumor Of The Colon	Melena, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morpho...	ORPHA:100080
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Cardiomegaly	OMIM:617713
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Pagod Syndrome	Situs inversus totalis, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of ...	ORPHA:991
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Hepatic steatosis, Ket...	OMIM:255120
Mosaic Trisomy 1	Congenital bilateral ptosis, Penile hypospadias, Cerebellar vermis hypoplasia, Hepatic agenesis, ...	ORPHA:1692
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, Angioid streaks of the fundus, Macular degeneration, High palate, Retinal he...	OMIM:177850
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Right atrial enlargement	OMIM:614473
Hypermobile Ehlers-Danlos Syndrome	Scoliosis, Limitation of joint mobility, Arachnodactyly, Osteoarthritis, Joint hypermobility, Ost...	ORPHA:285
Say-Barber-Miller Syndrome	Optic atrophy, Thin vermilion border, Tooth malposition, Macular degeneration, High palate, Cario...	ORPHA:3132
Distal Deletion 12Q	Kyphoscoliosis, Ectopic kidney, Biliary atresia, Pituitary adenoma, Polycystic kidney dysplasia, ...	ORPHA:96149
Dpagt1-Cdg	Anemia, Scoliosis, Camptodactyly, Osteoporosis, Arachnodactyly, Flexion contracture, Clinodactyly	ORPHA:86309
Osteootohepatoenteric Syndrome	Reduced bone mineral density, Anemia, Increased serum bile acid concentration, Hypokalemia, Hip d...	OMIM:619377
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:435660
Noonan Syndrome 14	High, narrow palate, Webbed neck, Kyphosis, Short stature, Downslanted palpebral fissures, Sparse...	OMIM:619745
Zttk Syndrome	Kyphosis, Bifid uvula, Intrauterine growth retardation, Optic atrophy, Scoliosis, Hemivertebrae, ...	OMIM:617140
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pericardial effusion, Polycythemia, Spleno...	ORPHA:2905
Melkersson-Rosenthal Syndrome	Macroglossia, Oligosacchariduria, Lymphadenopathy, Furrowed tongue	ORPHA:2483
Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Proximal muscle weakness in upper limbs, Spinal rigidity, Scoliosis, Hyperlordosis,...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Tip-toe gait, Proximal muscle weakness in upper limbs, Spinal rigidity, Scoliosis, Hyperlordosis,...	ORPHA:98853
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphoscoliosis, Difficulty walking, Broad eyebrow, High palate, Kyphosis, Gait ataxia, Cerebral c...	ORPHA:457359
Orofaciodigital Syndrome Type 1	Chronic otitis media, Elevated circulating hepatic transaminase concentration, Ataxia, Tongue nod...	ORPHA:2750
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Cerebellar hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Helsmoortel-Van Der Aa Syndrome	Bilateral ptosis, Enlarged kidney, Hyperlordosis, Ectropion of lower eyelids, Lateral ventricle d...	OMIM:615873
Knobloch Syndrome 1	Cerebral atrophy, Spina bifida occulta, Telecanthus, Cerebellar atrophy, Horizontal eyebrow, Pylo...	OMIM:267750
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Triangular shaped distal phalanges of the hand, Short long bone, Short metacarpal, Flared iliac w...	OMIM:271665
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Pallidal degeneration, Bull's eye maculopathy, Abetalipoproteinemia, Retinal degen...	ORPHA:157850
Primary Sclerosing Cholangitis	Osteopenia, Osteoporosis, Hepatosplenomegaly, Splenomegaly, Polyclonal elevation of IgM, Hypoalbu...	ORPHA:171
Mucopolysaccharidosis Type 2	Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Wide nose, Gingival overgrowth,...	ORPHA:580
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta...	OMIM:620376
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Biliary tract abnormality, Decreased num...	OMIM:137920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Retinal dysplasia, Retinal atrophy, Elevated circulating creatine kinase concentra...	OMIM:253280
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Anal atresia, Clitoral hypoplasi...	OMIM:618419
Ring Chromosome 7 Syndrome	Bilateral ptosis, Highly arched eyebrow, Severe intrauterine growth retardation, Bifid uvula, Hyp...	ORPHA:1449
Primrose Syndrome	Reduced bone mineral density, Genu valgum, Narrow iliac wing, Calcification of the auricular cart...	OMIM:259050
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Abnormal pancreatic duct morphology, Rhizomelia, T...	ORPHA:1190
Cataract 30, Multiple Types	Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract	OMIM:116300
Marfan Syndrome	Osteopenia, Limited elbow movement, Reduced bone mineral density, Scoliosis, Osteoporosis, Kyphos...	ORPHA:558
Acrodysostosis	Short nose, Abnormal female external genitalia morphology, Telecanthus, Abnormal form of the vert...	ORPHA:950
Opitz Gbbb Syndrome	Rectourethral fistula, Hypospadias, Telecanthus, Cerebellar vermis hypoplasia, Anteverted nares, ...	OMIM:300000
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Neuhauser Syndrome	High palate, Cerebral cortical atrophy, Short stature, Downslanted palpebral fissures, Bifid uvul...	OMIM:249310
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Kyphoscoliosis, Annular pancreas, Hypertonia, Inability to walk, Gait imbalance, Spasticity, Anky...	ORPHA:488642
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Long nose, Kyphosis, Opisthotonus, Cervical spinal canal stenosis, Hypertonia, Sacral dimple, Cer...	ORPHA:508533
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Glycogen Storage Disease Ii	Hepatomegaly, Urinary incontinence, Splenomegaly, Cardiomegaly, Macroglossia	OMIM:232300
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening, Hypercalcemia, Hyperphosp...	OMIM:617994
Lateral Meningocele Syndrome	High, narrow palate, Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, High palate...	ORPHA:2789
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Recurrent infections, Pelvic kidney, Scoliosis, Kyphosis,...	ORPHA:464311
Schimke Immunoosseous Dysplasia	Recurrent infections, Thoracic kyphosis, Waddling gait, Intrauterine growth retardation, Bilatera...	OMIM:242900
Aneurysm-Osteoarthritis Syndrome	Intervertebral disk degeneration, Knee osteoarthritis, Scoliosis, Osteoporosis, Camptodactyly of ...	ORPHA:284984
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Retinal thinning, Abnormality of macular pigmentation, Retinal atrophy, Cone/cone-rod dystrophy, ...	OMIM:608940
Giant Cell Arteritis	Optic atrophy, Hematuria, Recurrent pharyngitis, Paresthesia, Renal insufficiency, Glossitis, Art...	ORPHA:397
Pseudoxanthoma Elasticum	Retinal peau d'orange, Choroidal neovascularization, Angioid streaks of the fundus, Optic disc dr...	OMIM:264800
Common Variable Immunodeficiency	Lymphadenopathy, Gastrointestinal stroma tumor, Anal atresia, Splenomegaly, Lymphopenia, Abnormal...	ORPHA:1572
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat...	OMIM:309801
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Caudal interpedicular narrowing, Scoliosis, Delayed phalangeal epiphyseal ossification, Laryngotr...	OMIM:603546
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dysplastic corpus callosum, Kyphoscoliosis, High, narrow palate, Delayed puberty, Deviated nasal ...	OMIM:300967
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Mucopolysaccharidosis Type 3	Optic atrophy, Hepatomegaly, Thick nasal alae, Abnormality of the dentition, Central nervous syst...	ORPHA:581
Pelger-Huet Anomaly	Gingival overgrowth, Abnormality of the dentition, Median cleft palate, Kyphosis, Failure to thri...	OMIM:169400
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Ovarian cyst	ORPHA:327
Complement Component 4B Deficiency	Recurrent otitis media, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Menin...	OMIM:614379
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Monosomy 22Q13.3	Palpebral edema, Sacral dimple, Cerebellar cortical atrophy, Impaired pain sensation, Vesicourete...	ORPHA:48652
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Pyloric stenosis, Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Autosomal Agammaglobulinemia	Chronic otitis media, Recurrent infections, Arthritis, Skin rash, Meningitis, High palate, Sinusi...	ORPHA:33110
Dyrk1A-Related Intellectual Disability Syndrome	Kyphosis, Intrauterine growth retardation, Breast hypoplasia, Hypospadias, Pelvic kidney, Scolios...	ORPHA:464306
3Mc Syndrome 2	Postnatal growth retardation, Caudal appendage, Abnormal vertebral morphology, Torticollis, Hypos...	OMIM:265050
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect, High palate	OMIM:618798
Multiple Pterygium-Malignant Hyperthermia Syndrome	Abnormal circulating aldolase concentration, Webbed neck, Scoliosis, Kyphosis, Ptosis, Downslante...	ORPHA:2215
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect...	ORPHA:731
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Gastritis, Iron deficiency anemia, Lymphadenopathy, Reduced proporti...	ORPHA:37042
Koolen-De Vries Syndrome	Spondylolisthesis, Kyphosis, Intrauterine growth retardation, Narrow palate, Sacral dimple, Scoli...	OMIM:610443
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atrial enlargement, Le...	ORPHA:57777
Vici Syndrome	Everted upper lip vermilion, Wide nose, High palate, Elevated circulating creatine kinase concent...	OMIM:242840
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Kyphosis, Flexion contracture of finger, Kn...	OMIM:619040
Tetrasomy 5P	Postnatal growth retardation, Short nose, Anteverted nares, High palate, Short neck, Epicanthus, ...	ORPHA:3309
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Ascites, Pyloric stenosis, Pericardial effusion, Lymphangioma, S...	ORPHA:2136
Cohen Syndrome	Delayed puberty, High, narrow palate, Short philtrum, Scoliosis, Gingival overgrowth, Abnormality...	ORPHA:193
Mucopolysaccharidosis Type 6	Thick lower lip vermilion, Kyphosis, Joint stiffness, Failure to thrive, Ovoid vertebral bodies, ...	ORPHA:583
Craniofrontonasal Syndrome	Breast hypoplasia, Axillary pterygium, Hypoplastic nasal tip, Hypospadias, Webbed neck, Telecanth...	OMIM:304110
Mucolipidosis Iii Gamma	Claw hand deformity, Shoulder contracture, Scoliosis, Hyperlordosis, Kyphosis, Finger joint contr...	OMIM:252605
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Pseudoaminopterin Syndrome	Limited elbow movement, Clinodactyly of the 5th toe, Short 4th metacarpal, Hip subluxation, Clubb...	ORPHA:221120
Dyskeratosis Congenita, Autosomal Recessive 8	Pancolitis, Cerebellar atrophy, Inflammation of the large intestine, Oral leukoplakia, Intrauteri...	OMIM:620133
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Osteopenia, Calcinosis, Finger symphalangism, Anemia, Aplasia/hypoplasia involvi...	ORPHA:221016
Tarp Syndrome	Optic atrophy, Short palpebral fissure, Athetoid cerebral palsy, Broad-based gait, Anteverted nar...	ORPHA:2886
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Incre...	ORPHA:90795
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Melena, Chronic noninfectious lymphadenopathy, Hematochezia, Abnormal pulmonary val...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Melena, Chronic noninfectious lymphadenopathy, Hematochezia, Abnormal pulmonary val...	ORPHA:100082
Lynch Syndrome	Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the pancreas, Ovarian neoplasm, Intestinal...	ORPHA:144
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hepatic steatosis, Polycystic ovaries	OMIM:604367
Selective Igm Deficiency	Crohn's disease, Recurrent vulvovaginal candidiasis, Onychomycosis, Severe varicella zoster infec...	ORPHA:331235
Rothmund-Thomson Syndrome	Aplastic anemia, Osteopenia, Calcinosis, Reduced bone mineral density, Anemia, Increased suscepti...	ORPHA:2909
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Anemia, Iron deficiency anemia, Foot joint contracture, Osteoporosis, Flexion contrac...	ORPHA:79408
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Intellectual Developmental Disorder, Autosomal Dominant 57	Tip-toe gait, Telecanthus, Scoliosis, High palate, Kyphosis, Short stature, Ptosis, Broad nasal t...	OMIM:618050
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia, Osteoporosis	ORPHA:99880
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Carney Complex	Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hor...	ORPHA:1359
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Vesicoureteral reflux, Anomal...	OMIM:616368
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovaries, Hepati...	ORPHA:280365
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, High palate, Renal cyst,...	OMIM:614527
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morpholo...	ORPHA:2050
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Absent vas deferens, Jaundice, Abnormality of endocrine pancreas physiology,...	ORPHA:93111
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Esophageal varix, Leukocytosis, Portal hyper...	OMIM:615688
Feingold Syndrome	Short palpebral fissure, Annular pancreas, Esophageal atresia, Abnormal form of the vertebral bod...	ORPHA:1305
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor	OMIM:619649
Wiedemann-Steiner Syndrome	Postnatal growth retardation, Short palpebral fissure, Decreased response to growth hormone stimu...	ORPHA:319182
Leber Congenital Amaurosis 15	Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat...	OMIM:613843
Fanconi Anemia, Complementation Group D2	Annular pancreas, Ectopic kidney, Horseshoe kidney, Esophageal atresia, Deficient excision of UV-...	OMIM:227646
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly...	ORPHA:3261
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Osteopenia, Calcinosis, Finger symphalangism, Anemia, Abnormal ulnar metaphysis ...	ORPHA:221008
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, High palate, Ankyloglossia, Cleft palate, Lobulated tongue, Proteinu...	OMIM:311200
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Gastroesophageal reflux, Hilar lymph node enlargement,...	OMIM:620233
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Immunodeficiency 87 And Autoimmunity	Cholestasis, Ascites, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Jaundice, Cleft pa...	OMIM:619573
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia, Osteoporosis	ORPHA:143
Bone Marrow Failure Syndrome 3	Hyperechogenic pancreas, Recurrent infections, Eczematoid dermatitis, Short stature, Chromosome b...	OMIM:617052
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hypertonia, Supernumerary nipple, Hydroureter, Unilateral renal agenesis, Disproportionate short-...	OMIM:619194
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Short finger, Clinodactyly of the 5th finger, Lower-limb joint contracture, Scoliosis, Osteoporos...	ORPHA:459070
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Fucosidosis	Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly	ORPHA:349
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Tracheomalacia, Tracheobronchomalacia, Scoliosis, Kyphosis, S...	ORPHA:140
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Short nose, Cerebellar cortical atrophy, Cleft soft palate, Hypoplasia of the ovar...	OMIM:619321
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm...	OMIM:619665
Cataract 15, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:615274
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology, Scoliosis, Vertebral segmentation defect, Synostosis of carpal...	ORPHA:1005
Cataract 33, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:611391
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Nasal congestion, Rod-cone dystrophy, Macular atrophy, Optic disc pallor	OMIM:615434
15Q Overgrowth Syndrome	High, narrow palate, Telecanthus, Dandy-Walker malformation, Scoliosis, Brain atrophy, High palat...	ORPHA:314585
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Cerebellar-Facial-Dental Syndrome	S-shaped palpebral fissures, Inferior cerebellar vermis hypoplasia, Limb hypertonia, Anteverted n...	ORPHA:444072
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Digeorge Syndrome	Bifid uvula, Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Hepatic steatosis, Truncus a...	OMIM:188400
Metachromatic Leukodystrophy	Abnormal stomach morphology, Urinary incontinence, Hemobilia, Abnormal duodenum morphology, Neopl...	ORPHA:512
Multiple Pterygium Syndrome, Escobar Variant	Bilateral ptosis, Kyphosis, Absence of labia majora, Axillary pterygium, Hypospadias, Pterygium, ...	OMIM:265000
Proximal 16P11.2 Microdeletion Syndrome	Abnormal aortic valve morphology, Dextrocardia, Gastroesophageal reflux, Pyloric stenosis, Cleft ...	ORPHA:261197
Premature Ovarian Failure 6	Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei...	OMIM:612310
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Chromosome 18P Deletion Syndrome	Gonadal dysgenesis, Anteverted nares, High palate, Depressed nasal ridge, Decreased testicular si...	OMIM:146390
Rabin-Pappas Syndrome	Short palpebral fissure, Chiari type I malformation, Low hanging columella, Highly arched eyebrow...	OMIM:620155
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration, Neurodegeneration	ORPHA:79244
Scarf Syndrome	Perineal hypospadias, Webbed neck, Abnormal form of the vertebral bodies, Hypoplastic nipples, Bi...	OMIM:312830
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Webbed neck, Scoliosis, Hyperlordosis, Kyphosis, Short stature, Hydrone...	ORPHA:568
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Fasciculations, Abnormal scrotal rugation, Aplasia of t...	ORPHA:284339
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Decreased cervical spine flexion due to contractures of posterior cervical muscl...	ORPHA:98855
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic...	ORPHA:116
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Abno...	ORPHA:33226
Fryns Syndrome	Aganglionic megacolon, Hypospadias, Dandy-Walker malformation, Ectopic anus, Vesicoureteral reflu...	ORPHA:2059
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Everted upper lip vermilion, Short philtrum, Bicoronal synostosis, Scoliosis, Kyphosis, Camptodac...	OMIM:619951
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Postnatal growth retardation, Multicentric ossification of proximal ...	OMIM:223800
2Q31.1 Microdeletion Syndrome	Short palpebral fissure, Scoliosis, Vertebral segmentation defect, Kyphosis, Synophrys, Cerebral ...	ORPHA:251014
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Rhizomelia, High palate, Eczematoid dermatitis, Chiari malformation, Elevated c...	OMIM:618162
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short palpebral fissure, Short nose, Telecanthus, Synophrys, Cleft palate, Prominent nasal bridge...	ORPHA:364577
Lig4 Syndrome	Recurrent respiratory infections, Epicanthus, Micropenis, Prominent nose, Amenorrhea, Psoriasifor...	OMIM:606593
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Anemia, Atrioventricular canal defect, Meckel diverticulum, Vesicoureteral ...	OMIM:274000
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm...	OMIM:619203
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Heterochromia iridis, Anisocoria, Papilledema,...	ORPHA:263479
Meckel Syndrome 14	Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Hepatic fibrosis, Single...	OMIM:619879
Toriello-Lacassie-Droste Syndrome	Epispadias, Short palpebral fissure, Short nose, Aganglionic megacolon, Hypospadias, Telecanthus,...	ORPHA:3339
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Ataxia, Splenomegaly, Pancr...	ORPHA:699
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly	OMIM:613027
Poland Syndrome	Acute leukemia, Finger symphalangism, Reduced bone mineral density, Spina bifida occulta, Aplasia...	ORPHA:2911
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short 4th metacarpal, Hypermobility of toe joints, Reduced bone mineral density, Genu...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Short 4th metacarpal, Hypermobility of toe joints, Reduced bone mineral density, Genu...	ORPHA:99228
Monosomy X	Osteopenia, Short 4th metacarpal, Hypermobility of toe joints, Reduced bone mineral density, Genu...	ORPHA:99226
Turner Syndrome	Osteopenia, Short 4th metacarpal, Hypermobility of toe joints, Reduced bone mineral density, Genu...	ORPHA:881
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Hypotriglyceridemia, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of r...	ORPHA:85167
Saccharopinuria	Elevated plasma citrulline, Hypercystinemia, Hyperlysinemia, Hyperammonemia, Abnormal circulating...	ORPHA:3124
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:618117
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Splenomegal...	OMIM:306400
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Isolated Agammaglobulinemia	Pneumonia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Short stature, O...	ORPHA:229717
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Splenomegaly	ORPHA:3035
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Familial Mediterranean Fever	Hepatomegaly, Crohn's disease, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Sple...	OMIM:249100
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Seborrheic dermatitis, Biliary hyperplasia, Intrauterine growth retardation, Downslanted palpebra...	ORPHA:83617
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, High palate, Cryptorchidism, Precocious puberty, Cardiomegaly, Ventricular septal d...	ORPHA:96191
Developmental Malformations-Deafness-Dystonia Syndrome	Orofacial cleft, Scoliosis, Kyphosis, Short stature, Macroglossia	ORPHA:79107
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid...	OMIM:230000
Aromatase Deficiency	Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Wide nasal base, Aplasia/Hypoplasia of the cerebellum, Difficulty walking, Sacra...	ORPHA:480880
Scedosporiosis	Unusual skin infection, Abnormal jejunum morphology, Invasive fungal infection, Sinusitis, Perica...	ORPHA:449280
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Intestinal malrotation, Cleft palate, ...	OMIM:263520
3-Methylglutaconic Aciduria, Type Viia	3-Methylglutaconic aciduria, Cerebellar atrophy, Delayed CNS myelination	OMIM:619835
Trisomy 9P	Sacral dimple, Dental crowding, Scoliosis, Non-midline cleft of the upper lip, Kyphosis, Downturn...	ORPHA:236
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	External ophthalmoplegia, Short nose, Sacral dimple, Aganglionic megacolon, Short columella, Brai...	OMIM:613603
Nephronophthisis 11	Retinal degeneration, Hepatic fibrosis	OMIM:613550
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Kosaki Overgrowth Syndrome	Xanthelasma, Scoliosis, Thoracolumbar scoliosis, Thin skin, Downslanted palpebral fissures, Ptosi...	OMIM:616592
Stickler Syndrome	Cachexia, Glossoptosis, Lattice retinal degeneration, Tooth agenesis, Bifid uvula, Long philtrum,...	ORPHA:828
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, High palate, Abnormal thymus morphology	ORPHA:2463
Loeys-Dietz Syndrome 2	Scoliosis, Absent distal phalanges, Camptodactyly, Osteoporosis, Postaxial polydactyly, Arachnoda...	OMIM:610168
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Autosomal Dominant Robinow Syndrome	Abnormal form of the vertebral bodies, Hypoplasia of penis, Severe short stature, Sacral dimple, ...	ORPHA:3107
Stromme Syndrome	Stillbirth, Short columella, Accessory spleen, Cerebellar vermis hypoplasia, Optic nerve hypoplas...	OMIM:243605
Coffin-Siris Syndrome 4	Wide nose, Narrow nasal bridge, Recurrent infections, Dandy-Walker malformation, Scoliosis, Antev...	OMIM:614609
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ...	OMIM:106210
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr...	OMIM:620565
Mgat2-Cdg	Reduced level of N-acetylglucosaminyltransferase II, Low hanging columella, Brain atrophy, Scolio...	ORPHA:79329
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Global brain atrophy, Inability to walk, Recurrent infections, Truncal ataxia, Cerebellar atrophy...	OMIM:620066
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Periportal fibrosis, Patent foramen ovale, Hypoplastic nipples, Ventricular septal ...	OMIM:269860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive secondary to recurrent infections, Arthritis, Purulent rhinitis, Oti...	OMIM:601457
Kleefstra Syndrome	Supernumerary nipple, Hypospadias, Gastroesophageal reflux, Hypoplasia of penis, Vesicoureteral r...	ORPHA:261494
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Dyskeratosis Congenita, X-Linked	Anemia, Acute myeloid leukemia, Pancytopenia, Osteoporosis, Bone marrow hypocellularity, Leukopen...	OMIM:305000
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Abnormal vertebral morphology, Oculomotor apraxia, Highly arched eyebrow, Anteverted nares, Synop...	OMIM:616728
Cushing Disease	Vertebral compression fracture, Decreased eosinophil count, Leukocytosis, Osteoporosis, Lymphopenia	ORPHA:96253
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Disproportionate short-limb short stature, Hypoplasia of penis, Kyphosis, S...	ORPHA:1507
Arthrogryposis Multiplex Congenita 5	Kyphoscoliosis, Hypertonia, Akinesia, Anteverted nares, Scoliosis, Medullary nephrocalcinosis, Gr...	OMIM:618947
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Optic nerve hypoplasia, Bifid uvula, Delayed CNS myelination, Small scrotum, Broad-based gait, Ce...	OMIM:620330
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Adenocarcinoma Of The Anal Canal	Rectal prolapse, Anal stenosis, Lymphadenopathy, Neoplasm of the rectum, Anal canal adenocarcinom...	ORPHA:424016
Bardet-Biedl Syndrome	Hypoplasia of penis, Hypoplasia of the ovary, Cardiomyopathy, Abnormal heart morphology, Multiple...	ORPHA:110
Bangstad Syndrome	Abnormality of the parathyroid gland, Polycystic ovaries, Abnormal testis morphology	ORPHA:1227
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, High palate, Nephrotic syndrome, Prolonged ne...	ORPHA:499009
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:617690
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Pla...	ORPHA:1855
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
16Q24.3 Microdeletion Syndrome	Chronic otitis media, Highly arched eyebrow, Optic nerve hypoplasia, Scoliosis, Anteverted nares,...	ORPHA:261250
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Cleft palate, Cardiomegaly, Polycystic ovaries, Ventricular septal defect	ORPHA:137675
Graft Versus Host Disease	Gastrointestinal inflammation, Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Chro...	ORPHA:39812
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Depressed nasal tip, Dila...	OMIM:619306
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Splenomegaly, Hypospadias, Dandy-Walker malformation, ...	ORPHA:373
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Decreased response to growth hormone stimulation test, Hypoparathyroidism, Webbed ...	OMIM:618223
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch...	ORPHA:308552
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Knobloch Syndrome	Dextrocardia, Vesicoureteral reflux, Pyloric stenosis, Lymphangioma, Bifid ureter	ORPHA:1571
Pseudohypoparathyroidism Type 1A	Short 4th metacarpal, Calcinosis, Reduced bone mineral density, Hypocalcemic seizures, Short meta...	ORPHA:79443
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv...	ORPHA:514
X-Linked Agammaglobulinemia	Chronic otitis media, Arthritis, Skin rash, Meningitis, Glossoptosis, Sinusitis, Short stature, R...	ORPHA:47
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, C...	OMIM:619991
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Functional abnormality of the gastrointestinal trac...	ORPHA:29073
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Distal Triplication 15Q	Large for gestational age, Scoliosis, High palate, Kyphosis, Camptodactyly, Flexion contracture, ...	ORPHA:314588
Coffin-Siris Syndrome 1	Duodenal ulcer, Clitoral hypertrophy, Ectopic kidney, Aplasia of the uterus, Kyphosis, Gait ataxi...	OMIM:135900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Optic nerve hypoplasia, Shallow orbits, Bifid uvula, Scoliosis, Cr...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Optic nerve hypoplasia, Shallow orbits, Bifid uvula, Scoliosis, Cr...	ORPHA:352665
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia	OMIM:615363
Ogden Syndrome	Cardiomegaly, Polycystic kidney dysplasia, Enlarged kidney, Global glomerulosclerosis	OMIM:300855
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Hypospadias, High palate, Bifid scrotum, Anal atresia, Pyloric stenosi...	OMIM:619148
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Cholestasis, Ventricular septal def...	OMIM:222470
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Hurler-Scheie Syndrome	Scoliosis, Kyphosis, Joint stiffness, Camptodactyly of finger, Short stature, Growth delay, Thick...	OMIM:607015
Congenital Disorder Of Glycosylation, Type Iiw	Anemia, Scoliosis, Osteoporosis, Thrombocytopenia, Splenomegaly, Microcytic anemia	OMIM:619525
Flat Face-Microstomia-Ear Anomaly Syndrome	Long nose, High, narrow palate, Telecanthus, Highly arched eyebrow, Scoliosis, Sparse eyebrow, Sm...	ORPHA:1968
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Disproportionate short stature, Recurrent otitis media, Urinary incontinence, Irregular menstruat...	OMIM:616482
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice, Meningitis, Severe infection	ORPHA:464370
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Primary Sjögren Syndrome	Optic neuritis, Chorea, Biliary cirrhosis, Cognitive impairment, Erythema nodosum, Thyroiditis, L...	ORPHA:289390
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Cutis Laxa, Autosomal Recessive, Type Ic	Rectal prolapse, Multiple bladder diverticula, Gastroesophageal reflux, Accessory spleen, Patent ...	OMIM:613177
Intellectual Developmental Disorder, X-Linked 112	Kyphoscoliosis, Ectopic kidney, Hypospadias, Horseshoe kidney, Scoliosis, Enuresis nocturna, Vesi...	OMIM:301111
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Dubowitz Syndrome	Intrauterine growth retardation, Sacral dimple, Hypospadias, Short attention span, Sparse lateral...	OMIM:223370
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Hypospadias, Accessory spleen, Abnormal vagina morphology, Cleft palate...	OMIM:236680
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Dysphagia, Right ventricular hypertrophy	ORPHA:268
Carcinoid Syndrome	Hepatic necrosis, Intestinal carcinoid, Chronic noninfectious lymphadenopathy, Small intestine ca...	ORPHA:100093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s...	OMIM:614643
Carney Triad	Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Pheochromocyto...	ORPHA:139411
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebral atrophy, Glandular hypospadias, Cerebellar atrophy, Limb hypertonia	OMIM:620306
Cog1-Cdg	Kyphoscoliosis, Butterfly vertebrae, Postnatal growth retardation, Rhizomelia, Cerebellar vermis ...	ORPHA:263508
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Aganglionic megacolon, Thick lower lip vermilion, Pheochromocytoma, Scoliosi...	OMIM:162300
Neuroendocrine Tumor Of Stomach	Hematemesis, Hepatomegaly, Melena, Iron deficiency anemia, Chronic noninfectious lymphadenopathy,...	ORPHA:100075
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Reti...	OMIM:612109
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal blood ion concentration, Abnormal fingertip morphology, Anemia, Osteoporosis	ORPHA:79404
Cornelia De Lange Syndrome 1	Ectopic kidney, Malrotation of colon, Hypospadias, Cleft palate, Reduced renal corticomedullary d...	OMIM:122470
Mucolipidosis Type Ii	Postnatal growth retardation, Craniosynostosis, Gingival overgrowth, Limitation of joint mobility...	ORPHA:576
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Anal atresia, Hydronephrosis, Urethral atresia, Abs...	OMIM:271520
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Hypertonia, Anteverted nares, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Gliosis, Spas...	OMIM:620455
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Rett Syndrome, Congenital Variant	Apraxia, Chorea, Scoliosis, Athetosis, Spasticity, Kyphosis, Delayed myelination, Dystonia, Bulbo...	OMIM:613454
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu...	ORPHA:520
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Cerebral atrophy, Hepatomegaly, Webbed neck, Broad-based gait, Highly arched eyebrow, Telecanthus...	OMIM:280000
Tsh-Secreting Pituitary Adenoma	Osteopenia, Hypokalemia, Osteoporosis	ORPHA:91347
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Optic atrophy, Inability to walk, Scoliosis, Kyphosis, Short stature, Recurrent pneumonia, Unstea...	OMIM:618493
Williams Syndrome	Chronic otitis media, Abnormal form of the vertebral bodies, Hypoplasia of penis, Hyperlordosis, ...	ORPHA:904
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebral atrophy, Global brain atrophy, Hypertonia, Recurrent lower respiratory tract infections,...	OMIM:618426
Brachyolmia Type 3	Childhood-onset short-trunk short stature, Scoliosis, Kyphosis, Platyspondyly, Short neck	OMIM:113500
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Vitreous floaters, Vitritis, Retinal pigment epithelial atrophy	OMIM:605808
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, El...	ORPHA:97287
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Resting tremor, Positive Romberg sign, Extrapyramidal muscular rigidity, Cerebella...	ORPHA:67036
Acro-Renal-Mandibular Syndrome	Butterfly vertebrae, Orofacial cleft, Short philtrum, Scoliosis, Hemivertebrae, High palate, Kyph...	ORPHA:958
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Gastroesophageal reflux, Congenital nephrotic syndrome, Pyloric stenosis, P...	OMIM:256300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph...	OMIM:600802
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Anemia, Scoliosis, Osteoporosis, Decreased circulating iron concentration, Hip dyspla...	ORPHA:438213
Intermediate Uveitis	Band keratopathy, Cataract, Macular scar, Posterior synechiae of the anterior chamber, Tubulointe...	ORPHA:279914
Cleidocranial Dysplasia 1	Narrow palate, Supernumerary tooth, High, narrow palate, Spondylolysis, Delayed pubic bone ossifi...	OMIM:119600
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy	OMIM:105210
Glutaric Acidemia Type 3	Failure to thrive, Abnormal circulating enzyme concentration, Elevated circulating glutaric acid ...	ORPHA:35706
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Scoliosis, Kyphosis, Gait disturbance, Short stature, Hypogonadism, Attention deficit hyperactivi...	ORPHA:500055
Lymphatic Malformation 6	Intestinal lymphangiectasia, Gastroesophageal reflux, Ascites, Splenomegaly, Atrial septal defect...	OMIM:616843
Congenital Disorder Of Glycosylation, Type Iim	Cerebral atrophy, Poor head control, Vesicovaginal fistula, Recurrent infections, High palate, Ur...	OMIM:300896
Feingold Syndrome 1	Short palpebral fissure, Annular pancreas, Esophageal atresia, Accessory spleen, Anteverted nares...	OMIM:164280
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
1Q21.1 Microdeletion Syndrome	Scoliosis, Vesicoureteral reflux, High palate, Intrauterine growth retardation, Ankyloglossia, Bu...	ORPHA:250989
Alkaptonuria	Increased susceptibility to fractures, Reduced bone mineral density, Arthritis, Scoliosis, Joint ...	ORPHA:56
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intesti...	OMIM:617718
Kabuki Syndrome 1	Bilateral ptosis, Highly arched eyebrow, Premature thelarche, Intestinal malrotation, Recurrent a...	OMIM:147920
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Multiple carpal ossification centers, Generalized bone demineralization, Kyphosis...	OMIM:143095
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Rubinstein-Taybi Syndrome 1	Highly arched eyebrow, Incoordination, Premature thelarche, Nasolacrimal duct obstruction, Narrow...	OMIM:180849
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Distal 16P11.2 Microdeletion Syndrome	Obesity, Aganglionic megacolon, Narrow mouth, Kyphosis	ORPHA:261222
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short palpebral fissure, Fused cervical vertebrae, Hypospadias, Optic nerve hypoplasia, Pelvic ki...	ORPHA:508498
Meckel Syndrome	Optic atrophy, Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Dandy-Walker...	ORPHA:564
Thanatophoric Dysplasia Type 1	Flat face, Kyphosis, Joint stiffness, Abnormal sacroiliac joint morphology, Platyspondyly, Lethal...	ORPHA:1860
Microphthalmia, Syndromic 5	Cataract, Optic nerve hypoplasia, Microcornea, Micropenis	OMIM:610125
Marfanoid-Progeroid-Lipodystrophy Syndrome	High, narrow palate, Triangular face, Hyperextensibility of the finger joints, High palate, Kypho...	OMIM:616914
Esophageal Atresia	Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Abnormal ...	ORPHA:1199
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange discolored tonsil...	ORPHA:31150
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Villous atrophy, Anemia, Lymphadenopathy, Gastritis, Anoperineal fistula, B lymph...	OMIM:619381
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Loeys-Dietz Syndrome 3	Osteopenia, Hip osteoarthritis, Intervertebral disk degeneration, Knee osteoarthritis, Scoliosis,...	OMIM:613795
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Intestinal h...	OMIM:601346
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c...	OMIM:278850
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Congenital Tracheomalacia	Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula, Abnormal heart morphology...	ORPHA:95430
Meckel Syndrome, Type 1	Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Polycystic kidney dyspl...	OMIM:249000
Immunodeficiency 46	Chronic oral candidiasis, Meningitis, Recurrent sinopulmonary infections, Conjunctivitis	OMIM:616740
Camurati-Engelmann Disease	Optic atrophy, Delayed puberty, Hepatomegaly, Optic nerve compression, Abnormality of the vertebr...	ORPHA:1328
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Aplasia of the epiglottis, Atrioventricular canal defect, Hepatomegaly, Splenom...	OMIM:617088
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Aganglionic megacol...	ORPHA:653
Becker Nevus Syndrome	Spina bifida occulta, Scoliosis, Hypoplastic labia minora, Kyphosis, Abnormal scrotum morphology,...	ORPHA:64755
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphoscoliosis, Osteopenia, Narrow palate, Sacral dimple, Tooth malposition, Periodontitis, Prema...	ORPHA:536532
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Hypocalcemia...	ORPHA:667
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Spasticity, High palate, Elevated circulating alanine aminotransferase concentration, Pancreatic ...	OMIM:618500
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Tracheomalacia	OMIM:245650
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Pyloric stenosis, Subvalvular aortic stenosis, Mitral stenosis, Dysphagia	OMIM:619461
Townes-Brocks Syndrome 1	Anal stenosis, Hypospadias, Rectovaginal fistula, Renal insufficiency, Gastroesophageal reflux, V...	OMIM:107480
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cleft palate, Cardiomyopathy	ORPHA:158687
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Kyphosis, Asplenia, Cleft palate, Cryptorchidism, Upslanted palpebr...	OMIM:619123
Agammaglobulinemia 2, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Meningitis, Recurr...	OMIM:613500
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myocardial eosin...	ORPHA:3260
Von Hippel-Lindau Disease	Myocarditis, Distal lower limb muscle weakness, Neoplasm of the pancreas, Elevated urinary catech...	ORPHA:892
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thyroid hypoplasia, Prolonged neonatal jaundice, Bifid uvula, Lacrimal duct aplasia, Aplasia of t...	OMIM:620186
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Hereditary Sensory And Autonomic Neuropathy Type 5	Pain insensitivity, Decreased number of small peripheral myelinated nerve fibers, Impaired temper...	ORPHA:64752
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft palate, Cleft soft palate, Bifid uterus	ORPHA:2736
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Urinary incontinence, Intrauterine growth retardation, Hypospadias, Pelvic kidney, Sco...	OMIM:619522
Acrocardiofacial Syndrome	Hypertonia, Hypospadias, Hypoplasia of penis, Anal atresia, Long eyelashes, Cerebral cortical atr...	ORPHA:2008
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Kyphoscoliosis, Broad lateral eyebrow, Optic nerve hypoplasia, Bifid uvula, Lateral ventricle dil...	ORPHA:500150
Cutis Marmorata Telangiectatica Congenita	Reduced bone mineral density, Finger syndactyly, Scoliosis, Short lower limbs, Toe syndactyly	ORPHA:1556
Orofaciodigital Syndrome Iii	Supernumerary tooth, Microdontia, Kyphosis, Bifid uvula, Tongue nodules, Bifid tongue	OMIM:258850
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Bilateral camptodactyly, Scoliosis, Kyphosis, Short stature, Growth delay, Downturned corners of ...	OMIM:619557
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy	OMIM:620422
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi...	ORPHA:100085
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Increased circulating gonadotropin level, Telecanthus, Highly ar...	OMIM:110100
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Decreased response to growth hormone stimulatio...	ORPHA:1435
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Incoordination, Scoliosis, Growth delay, Abnormal renal physiology, Decreas...	OMIM:223900
Monosomy 9Q22.3	Short nose, Abnormality of the vertebral column, Ovarian fibroma, Kyphosis, Downslanted palpebral...	ORPHA:77301
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Cheilitis, Dental crowding, Everted lower lip vermilion, Kyphosis, Tooth agenesi...	ORPHA:534
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Hypospadias, Cleft soft palate, Highly arched eyebrow, Anteverted nares, Male pseudoh...	ORPHA:2282
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Gastroesophageal reflux, Renal artery stenosis, High palate, Renal hypoplasia, Nephrocalcinosis, ...	OMIM:617913
Immunodeficiency 66	Recurrent skin infections, Pustule, Meningitis	OMIM:618847
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis	OMIM:615947
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Degcags Syndrome	Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Congenital hypoplastic an...	OMIM:619488
Alveolar Echinococcosis	Decreased liver function, Jaundice, Abnormal vertebral morphology, Cholangitis, Liver abscess, Ab...	ORPHA:284
Phocomelia, Schinzel Type	High, narrow palate, Hypoplasia of penis, Aplasia of the uterus, Anal atresia, Tracheoesophageal ...	ORPHA:2879
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neut...	ORPHA:293173
Chromosome 16P13.3 Duplication Syndrome	Short nose, Sacral dimple, Webbed neck, Wide nose, Anteverted nares, Synophrys, Cervical C5/C6 ve...	OMIM:613458
17Q12 Microdeletion Syndrome	Cerebral atrophy, Elevated circulating hepatic transaminase concentration, Renal insufficiency, S...	ORPHA:261265
Atelis Syndrome 2	Short palpebral fissure, Sacral dimple, High palate, Kyphosis, Prominent nose, Epicanthus, Attent...	OMIM:620185
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Witteveen-Kolk Syndrome	Shallow orbits, Delayed CNS myelination, Intrauterine growth retardation, Male urethral meatus st...	OMIM:613406
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Highly arched eyebrow, Aplasia of the uterus, Kyphosis, Bi...	OMIM:194190
Short Syndrome	Ovarian cyst	OMIM:269880
Renpenning Syndrome 1	Cerebral atrophy, Hypospadias, Telecanthus, Low hanging columella, Scoliosis, Spasticity, Phimosi...	OMIM:309500
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis	OMIM:208000
46,Xy Partial Gonadal Dysgenesis	Osteoporosis	ORPHA:251510
Lacrimoauriculodentodigital Syndrome 1	Lacrimal gland aplasia, Absence of Stensen duct, Conical incisor, Aplasia of the parotid gland, L...	OMIM:149730
Luscan-Lumish Syndrome	Polycystic ovaries	OMIM:616831
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperphosphaturia, S...	OMIM:239200
Hutchinson-Gilford Progeria Syndrome	Reduced bone mineral density, Short clavicles, Osteolytic defects of the distal phalanges of the ...	ORPHA:740
Crimean-Congo Hemorrhagic Fever	Hematemesis, Ascites, Leukopenia, Splenomegaly, Cholecystitis, Myocarditis, Jaundice, Pancytopeni...	ORPHA:99827
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Delayed CNS myelination, Intrauterine growth retardation, Sacral dimple, Anteverted nares, Short ...	OMIM:617157
Cdags Syndrome	Rectourethral fistula, Lambdoidal craniosynostosis, Rectovaginal fistula, Kyphosis, Anal atresia,...	OMIM:603116
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Angiostrongyliasis	Hyperesthesia, Distal muscle weakness, Unusual CNS infection, Muscle weakness, Meningitis, Parest...	ORPHA:74
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Ectropion, S-shaped palpebral fissures, Highly arched eyebrow, Elevated circulating luteinizing h...	ORPHA:572333
Vascular Ehlers-Danlos Syndrome	Hypokalemia, Congenital hip dislocation, Osteoarthritis, Joint hypermobility, Osteolysis	ORPHA:286
Mend Syndrome	Sacral dimple, Abnormal nasal bridge morphology, Telecanthus, Limb hypertonia, Dandy-Walker malfo...	ORPHA:401973
22Q11.2 Deletion Syndrome	Chronic otitis media, Seborrheic dermatitis, Intestinal malrotation, Splenomegaly, Multiple renal...	ORPHA:567
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinusitis, Meningitis	OMIM:619707
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Bifid scrotum, Bifid uvula, Lateral ventricle dilatation, Septate vagina, E...	ORPHA:261537
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Reticulocytosis, Fat malabsorption, Cardiomegaly, H...	ORPHA:14
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Macrophthalmia, Colobomatous, With Microcornea	Macular atrophy, Chorioretinal coloboma, Optic disc coloboma	OMIM:602499
Mend Syndrome	Hypertonia, Sacral dimple, Dandy-Walker malformation, High palate, Kyphosis, Short stature, Promi...	OMIM:300960
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Painless fractures due to injury, Decreased number of peripheral myelinated nerve fibers	OMIM:201300
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Hepatomegaly, Microcolon, Splenomegaly, Hypogonadism, Ileus	ORPHA:163746
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Highly arched eyebrow, Bifid scrotum, Bifid uvula, Lateral ventricle dilata...	ORPHA:261552
Aspartylglucosaminuria	Cerebral atrophy, Beaking of vertebral bodies, Spondylolysis, Hepatomegaly, Spondylolisthesis, An...	OMIM:208400
Acromelic Frontonasal Dysostosis	Midline defect of the nose, Telecanthus, Optic nerve hypoplasia, Bifid nasal tip, Retrocerebellar...	OMIM:603671
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Limited elbow extension, Platyspondyly, Rhizomelia, Disproportionate short-limb short stature, Hy...	OMIM:618019
Neuroblastoma	Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary vanillylmandelic ...	ORPHA:635
Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Anteverted nares, Scoliosis, High palate, Synophrys, Protruding tongue, Pt...	OMIM:617062
Trichinellosis	Babinski sign, Memory impairment, Skin rash, Confusion, Facial palsy, Conjunctivitis, Conjunctiva...	ORPHA:863
Mucopolysaccharidosis Type 2, Severe Form	Cognitive impairment, Dermatan sulfate excretion in urine, Splenomegaly, Optic atrophy, Short sta...	ORPHA:217085
Martin-Probst Syndrome	Telecanthus, Renal insufficiency, Hypoplastic nipples, Bifid scrotum, Short stature, Chordee, Pro...	OMIM:300519
Schinzel-Giedion Midface Retraction Syndrome	Short 1st metacarpal, Wide distal femoral metaphysis, Tibial bowing, Postaxial hand polydactyly, ...	OMIM:269150
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Butterfly vertebrae, Annular pancreas, Hydroureter, Hypospadias, Esophageal atresia, Meckel diver...	OMIM:265380
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Generalized muscle weakness, Panh...	ORPHA:91351
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal palate morphology, Tarsal synostosis, Abnormal dental enamel morphology, Ectopic anus, K...	ORPHA:85199
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Intes...	OMIM:615710
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Scoliosis, Hemivertebrae, Ureteral triplication, Absent nipple, High palate, Ptosis, Downslanted ...	OMIM:104350
Cone-Rod Dystrophy 6	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat...	OMIM:601777
Ramon Syndrome	Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Scoliosis, Decreased body weight...	OMIM:266270
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Dysgenesis of the cerebellar vermis, Hypospadias, Small pituitary gland, Disproportionate short-l...	OMIM:619479
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Spondyloperipheral Dysplasia	Limited elbow extension, Rhizomelic leg shortening, Rhizomelic arm shortening, Kyphosis, Short st...	OMIM:271700
Mowat-Wilson Syndrome	Urinary incontinence, Bifid scrotum, Bifid uvula, Ataxia, Septate vagina, Enlarged cerebellum, Ag...	ORPHA:2152
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Neurofibromatosis Type 1	Delayed puberty, Spinal neurofibroma, Memory impairment, Pheochromocytoma, Scoliosis, Abnormal ey...	ORPHA:636
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Holoprosencephaly 14	Proboscis, Dandy-Walker malformation, Anteverted nares, Cerebellar atrophy, Cleft palate, Partial...	OMIM:619895
Heterotaxy, Visceral, 5, Autosomal	Cerebral atrophy, Ureteral duplication, Cerebellar atrophy, Asplenia, Abdominal situs ambiguus, U...	OMIM:270100
Barber-Say Syndrome	Ectropion, Sparse or absent eyelashes, Telecanthus, Breast aplasia, Anteverted nares, Hypoplastic...	ORPHA:1231
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr...	OMIM:312870
Mullegama-Klein-Martinez Syndrome	Curly eyelashes, Scoliosis, Facial palsy, Prominent nose, Short stature, Submucous cleft of soft ...	OMIM:301022
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Bacterial endocarditis, Aortic valve calcifica...	ORPHA:2072
Williams-Beuren Syndrome	Osteopenia, Kyphoscoliosis, Clinodactyly of the 5th finger, Osteoporosis, Hypercalcemia, Flexion ...	OMIM:194050
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Lowe Oculocerebrorenal Syndrome	Rickets, Postnatal growth retardation, Pathologic fracture, Scoliosis, Osteomalacia, Kyphosis, Sh...	OMIM:309000
Fusariosis	Panniculitis, Maculopapular exanthema, Myositis, Arthritis, Invasive fungal infection, Onychomyco...	ORPHA:228119
Ayme-Gripp Syndrome	Cerebral atrophy, Short nose, Chiari type I malformation, Broad eyebrow, Short stature, Pericardi...	OMIM:601088
Pancreatic And Cerebellar Agenesis	Convex nasal ridge, Optic nerve hypoplasia, Pancreatic hypoplasia, Severe intrauterine growth ret...	OMIM:609069
Postaxial Acrofacial Dysostosis	Supernumerary nipple, Midgut malrotation, Pyloric stenosis, Cleft palate, Cryptorchidism, Micropenis	OMIM:263750
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Hepatic steatosis, Polycystic ovaries	OMIM:151660
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hypertonia, Urinary incontinence, Lower limb spasticity, Brain atrophy, Myoclonic spasms, Synophr...	ORPHA:447997
Yunis-Varon Syndrome	High, narrow palate, Clitoral hypertrophy, Hypospadias, Glossoptosis, Renal artery stenosis, Card...	ORPHA:3472
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Shprintzen Omphalocele Syndrome	Webbed neck, Scoliosis, Flared nostrils, Kyphosis, Anal atresia, Short stature, Epicanthus, Wide ...	OMIM:182210
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Lymphadenopathy, Parotitis, Thrombocytopenia, Splenomegaly, Epididymitis, Cardiomeg...	OMIM:256040
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Abnormal vertebral morphology, Aganglionic megacolon, Tracheoesophageal fistula...	ORPHA:210122
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Mosaic Trisomy 20	Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spinal canal stenos...	ORPHA:1724
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Trichiasis, Entropion, Hypospadias, High palate, Kyphosis, Sparse eyebrow, Prominent nasal bridge...	OMIM:609944
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Spastic gait, Loss of eyelashes, Demyelinating peripheral neuropathy, Basal lamina onion bulb for...	ORPHA:2821
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Scoliosis, Kyphosis	OMIM:609008
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Ba...	ORPHA:47159
Acromegaly	Palpebral edema, Anterior hypopituitarism, Long penis, Wide nose, Dysuria, Pituitary growth hormo...	ORPHA:963
Arachnoiditis	Urinary bladder sphincter dysfunction, Meningitis, Paresthesia, Muscle weakness	ORPHA:137817
Limb-Mammary Syndrome	Cleft hard palate, Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bil...	ORPHA:69085
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Pr...	ORPHA:51
Kawasaki Disease	Myocarditis, Cervical lymphadenopathy, Jaundice, Glossitis, Abnormal heart valve morphology, Leuk...	ORPHA:2331
Junctional Epidermolysis Bullosa With Pyloric Atresia	Hematuria, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Urethral stricture, Intestina...	ORPHA:79403
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Villous atrop...	OMIM:557000
Peroxisome Biogenesis Disorder 1B	Optic atrophy, Cirrhosis, Hepatomegaly, Leukodystrophy, Hyperoxaluria, Renal cyst, Epicanthus, Co...	OMIM:601539
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Cardiomyopathy, Coronary artery stenosis, Spl...	ORPHA:565612
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Global brain atrophy, Cerebral degeneration, Retinal degeneration, Neurodegenerati...	OMIM:234200
Moderate Hemophilia A	Limitation of joint mobility, Gingival bleeding, Synovitis, Hip contracture, Joint hemorrhage, Ca...	ORPHA:169805
Doors Syndrome	Bilateral ptosis, Wide nasal base, Adrenal hyperplasia, Nephrocalcinosis, Myoclonus, Optic atroph...	ORPHA:79500
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Branchiooculofacial Syndrome	Hyperlordosis, Upslanted palpebral fissure, Kyphosis, Malrotation of colon, Intrauterine growth r...	OMIM:113620
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Scoliosis, Hyperlordosis, Kyphosis, Joint hypermobility	OMIM:617821
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Septate vagina, Intrahepatic...	OMIM:243800
Whim Syndrome	Limb ataxia, Severe periodontitis, Parotitis, Poor fine motor coordination, Lymphadenitis, Bronch...	ORPHA:51636
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl...	OMIM:201750
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate, Cachexia, Scoliosis, Kyphosis, Short stature	ORPHA:1969
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Bifid uvula, Lateral ventricle dilatation, Abnormality of the anus, Delayed CNS m...	OMIM:607872
Lambert-Eaton Myasthenic Syndrome	Keratoconjunctivitis sicca, Abnormality of the orbital region, Progressive proximal muscle weakne...	ORPHA:43393
Hydranencephaly	Postnatal growth retardation, Optic nerve hypoplasia, Cerebral cortical atrophy, Opisthotonus, In...	ORPHA:2177
Cono-Spondylar Dysplasia	Anteverted nares, Scoliosis, Kyphosis, Poor coordination, Short neck, Partial agenesis of the cor...	ORPHA:420794
Alkaptonuria	Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Kyphosis, Low back pain...	OMIM:203500
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Abnormality of the gastrointestinal tract, Neutrophilia ...	ORPHA:99826
Cushing Syndrome Due To Ectopic Acth Secretion	Vertebral compression fracture, Decreased eosinophil count, Leukocytosis, Osteoporosis, Lymphopenia	ORPHA:99889
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long...	ORPHA:90794
Alstrom Syndrome	Decreased response to growth hormone stimulation test, Scoliosis, Hyperostosis frontalis interna,...	OMIM:203800
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc...	OMIM:607944
Popliteal Pterygium Syndrome	Bifid scrotum, Bifid uvula, Cleft palate, Hypoplasia of the vagina, Small scrotum, Cryptorchidism...	OMIM:119500
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Ambiguous genitalia, Hypospadias, Anteverted nares, Bifid scrotum,...	ORPHA:96176
Ulnar-Mammary Syndrome	Breast hypoplasia, Anal stenosis, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperforate...	OMIM:181450
Elsahy-Waters Syndrome	Anal stenosis, Penoscrotal hypospadias, Cervical C2/C3 vertebral fusion, Hypospadias, Wide nose, ...	OMIM:211380
Sotos Syndrome	Chronic otitis media, Ureteral duplication, Kyphosis, Prolonged neonatal jaundice, Congenital pos...	ORPHA:821
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Chromosome Xq26.3 Duplication Syndrome	Widely spaced teeth, Kyphosis, Pituitary adenoma, Elevated circulating growth hormone concentrati...	OMIM:300942
Holt-Oram Syndrome	Joint stiffness, Scoliosis, Kyphosis, Radioulnar synostosis	ORPHA:392
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Kyphoscoliosis, Lower limb hypertonia, Hypogonadism, Small scrotum, Optic atrophy, Hypospadias, A...	OMIM:309580
Meckel Syndrome, Type 7	Hypertonia, Multicystic kidney dysplasia, Dandy-Walker malformation, Cholestasis, Biliary cirrhos...	OMIM:267010
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Scoliosis, High palate, Microdontia, Kyphosis, Short statu...	OMIM:278250
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Knee flexion contracture, Kyphosis, Thoracic scoliosis	OMIM:603387
Adult Acute Respiratory Distress Syndrome	Abnormality of tumor necrosis factor secretion, Abnormal circulating interleukin concentration, I...	ORPHA:70578
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Retinal capillary hemangioma, Cer...	OMIM:193300
Aplasia Cutis-Myopia Syndrome	Meningitis	ORPHA:1117
Complement Factor B Deficiency	Recurrent meningococcal disease, Peritonitis, Pneumonia, Meningitis, Recurrent bacterial infections	OMIM:615561
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Short stature, Ambiguous genitalia, Pancreatic fibrosis, Depressed nasal bridge	OMIM:615503
Sheehan Syndrome	Breast hypoplasia, Reduced circulating prolactin concentration, Hyposthenuria, Pituitary hypothyr...	ORPHA:91355
Shwachman-Diamond Syndrome 2	Steatorrhea, Hyperechogenic pancreas, Hepatomegaly, Recurrent infections, High palate, Short stat...	OMIM:617941
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Kyphosis, Back pain, Sacroiliac arthritis, Inflammation of the large intestin...	OMIM:106300
Complement Factor I Deficiency	Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu...	OMIM:610984
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Steatorrhea, Cholestasis, Biliary cirrhosis,...	OMIM:613471
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Sinusitis, Nasolacrimal sac granuloma, Intrauterine growt...	ORPHA:2968
Somatomammotropinoma	Palpebral edema, Anterior hypopituitarism, Wide nose, Dysuria, Pituitary growth hormone cell aden...	ORPHA:314769
Insensitivity To Pain, Congenital, With Anhidrosis	Pain insensitivity, Decreased number of small peripheral myelinated nerve fibers, Keratitis, Oste...	OMIM:256800
Viss Syndrome	Coronary sinus enlargement, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Dysp...	OMIM:619472
Coffin-Lowry Syndrome	Narrow palate, Short nose, Rectal prolapse, Lumbar kyphosis, Telecanthus, Wide nose, Highly arche...	OMIM:303600
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Unilateral facial palsy, Torticollis, Cyst of the ductus choledochus, Scoliosis, Downslanted palp...	OMIM:619480
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating cytokine concentration, Abnormal circulating interleukin concentration, Incr...	ORPHA:542323
Alström Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Precocious puberty...	ORPHA:64
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, High palate	OMIM:615866
Sepsis In Premature Infants	Decreased liver function, Jaundice, Hepatomegaly, Invasive fungal infection, Enterocolitis, Disse...	ORPHA:90051
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Abnormality of the dentition, Failure to thrive, Abnormal circulating ...	ORPHA:93598
Pmm2-Cdg	Osteopenia, Kyphoscoliosis, Platyspondyly, Reduced thyroxin-binding globulin, Osteoporosis, Long ...	ORPHA:79318
Rat-Bite Fever	Morbilliform rash, Myocarditis, Pancreatitis, Arthritis, Skin rash, Parotitis, Meningitis, Lympha...	ORPHA:31205
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Granulomatosis With Polyangiitis	Chronic otitis media, Intestinal obstruction, Abnormality of the nose, Prostatitis, Pancreatitis,...	ORPHA:900
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, High palate, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Plague	Hematemesis, Hepatomegaly, Glossitis, Lymphadenitis, Inflammation of the large intestine, Enteroc...	ORPHA:707
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Alport Syndrome	Macular degeneration, Retinal flecks, Clitoral hypertrophy	ORPHA:63
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Norrie Disease	Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t...	ORPHA:649
Cutis Laxa, Autosomal Recessive, Type Iic	Patent foramen ovale, High palate, Median cleft palate, Bilateral cryptorchidism, Pyloric stenosi...	OMIM:617402
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, High, narrow palate, Cardiomegaly	ORPHA:91387
Cherubism	Narrow palate, Submandibular lymph node enlargement	OMIM:118400
Reactive Arthritis	Recurrent aphthous stomatitis, Arthritis, Joint stiffness, Inflammation of the large intestine, E...	ORPHA:29207
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina	ORPHA:457284
Epidermolysis Bullosa Simplex With Pyloric Atresia	Glomerular sclerosis, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Abnormality of the...	ORPHA:158684
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas, Duodenal atresia	ORPHA:1203
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Hepatomegaly, Recurrent infection of the gastrointestinal tract, Spl...	OMIM:612132
Cerebrocostomandibular Syndrome	Tracheomalacia, Short hard palate, Glossoptosis, Kyphosis, Short stature, Cleft palate, Intrauter...	ORPHA:1393
Autosomal Recessive Cutis Laxa Type 1	Multiple bladder diverticula, Vesicoureteral reflux, Urethral diverticulum, Pyloric stenosis, Sma...	ORPHA:90349
Genitopatellar Syndrome	Clitoral hypertrophy, Enlarged labia minora, Anal stenosis, Multicystic kidney dysplasia, Wide no...	OMIM:606170
Lymphedema-Distichiasis Syndrome	Ectropion, Webbed neck, Kyphosis, Distichiasis, Ptosis, Cleft palate, Conjunctivitis	OMIM:153400
Fraser Syndrome	Abnormal vagina morphology, Hypoplasia of penis, Lacrimal duct aplasia, Small scrotum, Hypospadia...	ORPHA:2052
Peters Plus Syndrome	Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Anterior hypopituitarism, Anal atres...	ORPHA:709
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
Pancreas, Annular	High intestinal obstruction, Annular pancreas, Duodenal stenosis	OMIM:167750
Annular Pancreas	High intestinal obstruction, Annular pancreas, Duodenal stenosis	ORPHA:675
Wiskott-Aldrich Syndrome	Chronic otitis media, Arthritis, Nephropathy, Hypoplasia of the thymus, Eczematoid dermatitis, Si...	ORPHA:906
Intrahepatic Cholestasis Of Pregnancy	Abnormal pineal melatonin secretion, Abnormal circulating interleukin concentration, Small for ge...	ORPHA:69665
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Salmonella osteomyelitis, Abnormal circulating interleukin concentration	ORPHA:319552
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Pericarditi...	ORPHA:509
Full Nf2-Related Schwannomatosis	Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system	ORPHA:637
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Acute kidney injury, Pancreatitis, Decreased urine output, Acute colitis, Oliguria, ...	ORPHA:544482
Woodhouse-Sakati Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat...	ORPHA:3464
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Neuroocular Syndrome	Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Lens coloboma, Brushfield sp...	OMIM:619539
Pallister-Killian Syndrome	Kyphoscoliosis, Aplasia of the uterus, Upslanted palpebral fissure, Intestinal malrotation, Bifid...	OMIM:601803
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cystocel...	OMIM:130050
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Babinski sign, Spasticity, Cerebellar atrophy, Limb dystonia, Hemiparesis, Dystonia, Peripapillar...	OMIM:175780
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom...	ORPHA:103918
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Neu-Laxova Syndrome 1	Transposition of the great arteries, Patent foramen ovale, Cryptorchidism, Cleft palate, Bifid ut...	OMIM:256520
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Clitoral hypop...	OMIM:261540
Microphthalmia, Syndromic 2	Hypospadias, Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmen...	OMIM:300166
Yunis-Varon Syndrome	Kyphosis, Intrauterine growth retardation, Hypospadias, Cerebellar vermis hypoplasia, Anteverted ...	OMIM:216340
African Trypanosomiasis	Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Urinary incontinence, Abnormal prolactin le...	ORPHA:3385
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Proteinuria, Hemolytic anemia, ...	ORPHA:536
Sweet Syndrome	Increased circulating interleukin 6 concentration, Inflammation of the large intestine, Abnormal ...	ORPHA:3243
Mowat-Wilson Syndrome	Atrial septal defect, Aganglionic megacolon, Hypospadias, Bifid scrotum, Cryptorchidism, Pyloric ...	OMIM:235730
Woodhouse-Sakati Syndrome	Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr...	OMIM:241080
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Hyperphosphaturia, Pericardial effu...	ORPHA:51608
Pancreatitis, Hereditary	Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic c...	OMIM:167800
Immunodeficiency 68	Septic arthritis, Recurrent skin infections, Recurrent meningitis, Lymphadenitis	OMIM:612260
Immunodeficiency 67	Liver abscess, Recurrent staphylococcal infections, Recurrent streptococcal infections, Septic ar...	OMIM:607676
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Narrow palate, Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, High palate, H...	OMIM:276820
Spondyloepimetaphyseal Dysplasia, X-Linked	Limited elbow extension, Delayed ossification of carpal bones, Kyphosis, Anterior wedging of T12,...	OMIM:300106
Loeys-Dietz Syndrome	Bifid uvula, High palate, Uterine rupture	ORPHA:60030
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Difficulty walking, Urinary incontinence, Scoliosis, Kyphosis, Aspiration pneumonia	OMIM:619482
Wiskott-Aldrich Syndrome	Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent meningitis, Nephr...	OMIM:301000
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Gastric ulcer	OMIM:161700
Sacral Defect With Anterior Meningocele	Anterior sacral meningocele, Rectal abscess, Neurogenic bladder, Hemisacrum, Back pain, Absence o...	OMIM:600145
Microphthalmia, Syndromic 1	Rectal prolapse, Aganglionic megacolon, Hydroureter, Hypospadias, High, narrow palate, High palat...	OMIM:309800
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gnptab

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gnptab.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Human GNPTAB stuttering mutations engineered into mice cause vocalization deficits and astrocyte pathology in the corpus callosum.	Proceedings of the National Academy of Sciences of the United States of America (August 2019)	Gnptab^{tm1a(EUCOMM)Wtsi}	31405983

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MGI Allele	Allele Type	Produced
Gnptab^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Gnptab^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gnptab MGI:3643902

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Morphology Embryo E18.5

X-ray

X-ray

X-ray

MicroCT E18.5

X-ray

Human diseases caused by Gnptab mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data