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Gene: Mmp2 MGI:97009

Gene Summary

Name:

matrix metallopeptidase 2

Synonyms:

gelatinase A, MMP-2, Clg4a, GelA, 72kDa type IV collagenase, 72kDa gelatinase

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
abnormal skin morphology	Mmp2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased bone mineral content	Mmp2^em1(IMPC)Mbp	HOM	Late adult	2.39×10^-05
decreased grip strength	Mmp2^em1(IMPC)Mbp	HOM	Late adult	7.53×10^-05
enlarged lymph nodes	Mmp2^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased body length	Mmp2^em1(IMPC)Mbp	HOM	Late adult	1.32×10^-11
enlarged spleen	Mmp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal bone structure	Mmp2^em1(IMPC)Mbp	HOM	Early adult	1.13×10^-10
abnormal heart morphology	Mmp2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal stomach morphology	Mmp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal vitreous body morphology	Mmp2^em1(IMPC)Mbp	HOM	Early adult	1.61×10^-06
decreased prepulse inhibition	Mmp2^em1(IMPC)Mbp	HOM	Early adult	2.03×10^-05
cataract	Mmp2^em1(IMPC)Mbp	HOM	Early adult	2.00×10^-06
abnormal skin morphology	Mmp2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged heart	Mmp2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Mmp2^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Mmp2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Mmp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lymph node morphology	Mmp2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged stomach	Mmp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Mmp2^em1(IMPC)Mbp	HOM	Early adult	0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

36 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Human diseases caused by Mmp2 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 Mmp2 (2 diseases)
Human diseases predicted to be associated with Mmp2 (1823 diseases)

The table below shows human diseases associated to Mmp2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Multicentric Osteolysis, Nodulosis, And Arthropathy		Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata...	OMIM:259600
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum		Osteopenia, Carpal osteolysis, Abnormality of the orbital region, Pterygium, Osteolysis involving...	ORPHA:371428

The table below shows human diseases predicted to be associated to Mmp2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Osteochondrosis Of The Metatarsal Bone	Osteochondrosis, Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis,...	ORPHA:564003
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Pathologic fracture, Upper limb undergrowth, Limitation of joi...	ORPHA:166277
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab...	ORPHA:970
Grant Syndrome	Large fontanelles, Abnormal cortical bone morphology, Joint dislocation, Decreased skull ossifica...	ORPHA:2097
Osteochondrosis Of The Tarsal Bone	Osteochondritis dissecans, Tarsal sclerosis, Arthritis, Abnormal tarsal ossification, Chondritis,...	ORPHA:563991
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Mueller-Weiss Syndrome	Fragmented, irregular epiphyses, Joint subluxation, Knee osteoarthritis, Arthritis, Abnormality o...	ORPHA:566943
Pyle Disease	Limited elbow extension, Genu valgum, Cubitus valgus, Reduced bone mineral density, Delayed erupt...	OMIM:265900
Sclerosteosis	Abnormality of the nose, Optic atrophy, Diaphyseal undertubulation, Abnormal cortical bone morpho...	ORPHA:3152
Cranio-Osteoarthropathy	Large fontanelles, Abnormal cortical bone morphology, Abnormal tibia morphology, Arthritis, Eczem...	ORPHA:1525
Eiken Syndrome	Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Cubitus valgus, Delayed...	ORPHA:79106
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy, Osteoporosis, Short distal phalanx of finger, Brachydactyly, Wormian bones, Joint ...	ORPHA:2787
Osteogenesis Imperfecta, Type Xxii	Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple prenatal frac...	OMIM:619795
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c...	ORPHA:1802
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Short tubular bones of the hand, Abnormal diaphysis morphology, Obtuse angle of mandi...	ORPHA:85184
C1Q Deficiency 3	Recurrent bacterial meningitis, Discoid lupus rash, Antinuclear antibody positivity	OMIM:620322
Weiss-Kruszka Syndrome	Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Highly arched eyebrow, P...	ORPHA:502430
Talo-Patello-Scaphoid Osteolysis	Short 4th metacarpal, Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Os...	ORPHA:50809
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormality of cranial sutures, Short nose, Abnormal bone ossification, Abnormal femoral neck/hea...	ORPHA:163649
Mantle Cell Lymphoma	Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy	ORPHA:52416
Multiple Epiphyseal Dysplasia Type 1	Genu valgum, Arthralgia of the hip, Delayed epiphyseal ossification, Short long bone, Limitation ...	ORPHA:93308
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl...	ORPHA:2619
Hyperostosis Corticalis Generalisata	Diaphyseal undertubulation, Cranial hyperostosis, Abnormal cortical bone morphology, Mandibular p...	ORPHA:3416
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Short nose, Genu valgum, Irregular epiphyses of the metacarpals, Hitchhi...	OMIM:614078
Trigonocephaly 2	Metopic synostosis, Downslanted palpebral fissures, Wide nasal bridge, Depressed nasal bridge	OMIM:614485
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Congenital bilateral hip dislocation, Joint subluxation, Hallux valgus, Contracture o...	OMIM:130060
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Lymphadenopathy, Gastroesophageal reflux	ORPHA:99976
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormality of bone mineral density, Hip dysplasia, Coxa vara, Broad ...	ORPHA:2114
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Premature epimetaphyseal fusio...	ORPHA:85435
Ck Syndrome	Retrognathia, Abnormal cortical bone morphology, Abnormal digit morphology, Almond-shaped palpebr...	OMIM:300831
Osteogenesis Imperfecta, Type Xviii	Recurrent fractures, Femoral bowing, Bowing of the long bones, Long eyelashes, Generalized osteop...	OMIM:617952
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Vitamin D-Dependent Rickets, Type 2A	Rickets, Metaphyseal irregularity, Fibular bowing, Delayed eruption of teeth, Enlargement of the ...	OMIM:277440
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Epiphyseal Dysplasia, Multiple, 3	Limited elbow extension, Irregular epiphyses, Small epiphyses, Delayed epiphyseal ossification, L...	OMIM:600969
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Pseudoachondroplasia	Short long bone, Increased laxity of ankles, Flat acetabular roof, Hypoplastic pelvis, Joint stif...	ORPHA:750
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Reduced bone mineral density, Macular exudate, Retinal neovascularization...	ORPHA:891
Potocki-Shaffer Syndrome	Short nose, Telecanthus, Sparse lateral eyebrow, Downslanted palpebral fissures, 2-5 finger cutan...	OMIM:601224
Epiphyseal Dysplasia, Multiple, 5	Genu valgum, Irregular epiphyses, Arthralgia of the hip, Small epiphyses, Delayed ossification of...	OMIM:607078
Craniofacial-Deafness-Hand Syndrome	Short nose, Abnormality of the wrist, Lacrimal duct atresia, Depressed nasal ridge, Hypoplasia of...	ORPHA:1529
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Large fontanelles, Short nose, Anteverted nares, Delayed cranial suture closure, Ma...	ORPHA:1832
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Intellectual Developmental Disorder, X-Linked 91	Short nose, Cubitus valgus, Short foot, Epicanthus, Short 5th finger, Clinodactyly, Small hand	OMIM:300577
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Hypertension, Abnormal cortical bone mo...	ORPHA:1879
Acrocephalopolydactyly	Short nose, Genu recurvatum, Short long bone, Depressed nasal ridge, Hepatosplenomegaly, Epicanth...	ORPHA:221054
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent viral infections, BCGitis, Recurrent mycobacterium avium c...	OMIM:614892
Complement Component 8 Deficiency, Type I	Meningitis, Systemic lupus erythematosus	OMIM:613790
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata...	OMIM:259600
Epiphyseal Dysplasia, Multiple, 1	Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific...	OMIM:132400
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract, Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
17Q21.31 Microduplication Syndrome	Short nose, Clinodactyly of the 5th finger, Sandal gap, Anteverted nares, Synophrys, Micrognathia...	ORPHA:217340
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Herpes simplex encephalitis, Recurrent herpes	OMIM:610551
Albers-Schönberg Osteopetrosis	Optic atrophy, Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morpholog...	ORPHA:53
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Femoral bowing, Broad thumb, Wormian bones, Short 5th metacarpal, Thin bony...	OMIM:619638
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Intrauterine growth retardation, Viral encephalitis	OMIM:619441
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
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ossification, Enlargement ...	OMIM:600081
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Ethanolaminosis	Cardiomegaly	OMIM:227150
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Wide anterior fontanel, Epicanthus, Prominent nose, Delayed cl...	OMIM:614886
Osteogenesis Imperfecta, Type V	Osteopenia, Anterior radial head dislocation, Hyperextensibility of the finger joints, Hyperexten...	OMIM:610967
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Abnormal aortic valve morphology, Hypertrophic cardiomyopathy, Growth d...	ORPHA:1194
8Q22.1 Microdeletion Syndrome	Abnormal nostril morphology, Telecanthus, Sandal gap, Highly arched eyebrow, Blepharophimosis, Fi...	ORPHA:178303
Pfeiffer Syndrome	Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Fing...	OMIM:101600
Trigonocephaly 1	Short nose, Metopic synostosis, Synophrys, Epicanthus, Craniosynostosis, Upslanted palpebral fiss...	OMIM:190440
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Short nose, Anteverted nares, Long eyelashes, Micrognathia, Clinodactyly, Ulnar deviation of the ...	OMIM:618577
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteo...	ORPHA:53697
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Acrodysostosis	Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Coxa valga, Genu varum, Hypop...	ORPHA:950
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares, Prominent metopic ridge	ORPHA:46
American Trypanosomiasis	Myocarditis, Congestive heart failure, Skin rash, Cardiomyopathy, Autoimmune antibody positivity,...	ORPHA:3386
Metatropic Dysplasia	Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger...	ORPHA:2635
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of...	ORPHA:1486
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Optic atrophy, Recurrent fractures	ORPHA:2773
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Hao-Fountain Syndrome	Delayed cranial suture closure, Large fontanelles, Hallux valgus, Clinodactyly of the 5th finger	OMIM:616863
L-2-Hydroxyglutaric Aciduria	Neoplasm of the nervous system, Infectious encephalitis	ORPHA:79314
Q Fever	Pericarditis, Cholecystitis, Myocarditis, Anti-smooth muscle antibody positivity, Maculopapular e...	ORPHA:781
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Hypermobility of interphalang...	OMIM:613849
Hypochondroplasia	Limited elbow extension, Flared metaphysis, Short long bone, Trident hand, Malar flattening, Shor...	OMIM:146000
Autosomal Recessive Omodysplasia	Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Pterygium, Anteverted nare...	ORPHA:93329
Multicentric Carpotarsal Osteolysis Syndrome	Ankle swelling, Wrist swelling, Metacarpal osteolysis, Osteopenia, Carpal osteolysis, Hypertensio...	OMIM:166300
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Fibular bowing, Delayed eruption of teeth, Enlargement of the wrists, Enlargement of the...	OMIM:264700
Nipah Virus Disease	Recurrent pharyngitis, Hypotension, Infectious encephalitis	ORPHA:99825
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Short nose, Large fontanelles, Anteverted nares, Bowing of the long bones, Short palm, Micrognath...	ORPHA:171839
Dysostosis, Stanescu Type	Abnormal metaphysis morphology, Narrow nasal bridge, Increased bone mineral density, Abnormal den...	ORPHA:1798
Coronary Artery Disease, Autosomal Dominant 2	Hypertension, Osteoporosis, Gout, Sudden cardiac death, Myocardial infarction	OMIM:610947
Desbuquois Dysplasia 1	Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Joint hy...	OMIM:251450
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short nose, Large fontanelles, Wide distal femoral metaphysis, Wide nose, Delayed epiphyseal ossi...	OMIM:613320
Proteus Syndrome	Calvarial hyperostosis, Mandibular hyperostosis, Ptosis, Downslanted palpebral fissures, Facial h...	OMIM:176920
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Short nose, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Depressed ...	OMIM:614732
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	Herpes simplex encephalitis	OMIM:616532
Lymphoproliferative Syndrome, X-Linked, 1	Severe Epstein Barr virus infection, Recurrent pharyngitis, Vasculitis, Fulminant hepatitis, Lymp...	OMIM:308240
Immunodeficiency 104	Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, T lymphocytopenia, Splenomegaly	OMIM:608971
Familial Osteodysplasia, Anderson Type	Long nose, Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Abnormal cortical...	ORPHA:2769
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Multiple bony cystic lesions, Abnormal bone structure, Abnormal maxilla morp...	ORPHA:83451
Stickler Syndrome Type 1	Short nose, Abnormal vitreous humor morphology, Retinal detachment, Abnormal vertebral epiphysis ...	ORPHA:90653
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Delayed ossification of carpal bones...	OMIM:105835
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ...	OMIM:241530
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Abnormal thumb morphology, Large fontanelles, Abnormality of the wrist, Abnormal zygomatic bone m...	ORPHA:2511
Craniometadiaphyseal Dysplasia	Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel, Mandibular pr...	OMIM:269300
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Roifman-Chitayat Syndrome	Osteopenia, Optic atrophy, Cone-shaped epiphysis, Short metatarsal, Arthritis, Short metacarpal, ...	OMIM:613328
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of fontanelles, Anteverted nares, Depressed nasal ridge, Congenital hip dislocation, ...	ORPHA:2412
Summitt Syndrome	Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Wide nose, Finger syndactyly, ...	ORPHA:3210
Immunodeficiency 37	Recurrent infections, Infectious encephalitis, Colitis	OMIM:616098
Typhoid	Gastrointestinal hemorrhage, Skin rash, Cardiac arrest, Epistaxis, Arrhythmia, Infectious encepha...	ORPHA:99745
Chromosome 16Q22 Deletion Syndrome	Short palpebral fissure, Highly arched eyebrow, Wide anterior fontanel, Blepharophimosis, Promine...	OMIM:614541
Fg Syndrome 5	Short nose, Anteverted nares, Epicanthus, Metopic synostosis, Upslanted palpebral fissure, Depres...	OMIM:300581
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Herpes simplex encephalitis, Meningitis	OMIM:617900
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Limited elbow extension, Short nose, Carpal bone hypoplasia, Osteopenia, Small epiphyses, Femoral...	OMIM:616723
Aspergillosis	Invasive pulmonary aspergillosis, Meningitis, Bronchiectasis, Sinusitis, Hematological neoplasm, ...	ORPHA:1163
Burkitt Lymphoma	Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality ...	ORPHA:543
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Osteochondritis dissecans, Hip osteoarthritis, Mandibular prognathia, Premature osteoarthritis, B...	OMIM:165800
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Wide anterior font...	OMIM:620099
Eales Disease	Retinal thinning, Ischemic stroke, Peripheral retinal neovascularization, Cystoid macular edema, ...	ORPHA:40923
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Anteverted nares, Enlarged epiphyses, Premature osteoarthritis, Epiphyseal dysplasia, Malar flatt...	OMIM:184840
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Premature posterior fontanelle closure, Multiple suture craniosynostosis, Small anterior fontanel...	ORPHA:3369
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Abnormal vitreous humor morphology, Abnormal femoral neck/head morphology, Crumpled l...	ORPHA:2788
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Short nose, Reduced bone mineral density, Clinodactyly of the 5th...	ORPHA:2370
Lyme Disease	Arthritis, Arrhythmia, Atrioventricular block, Meningitis, Infectious encephalitis, Uveitis	ORPHA:91546
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Flared metaphysis, Short middle phalanx of the 5th finger, Osteoporosis of vertebrae, Hypoplasia ...	OMIM:156510
Spinocerebellar Ataxia-Dysmorphism Syndrome	Optic atrophy, Short nose, Reduced bone mineral density, Cubitus valgus, Spina bifida occulta, Sl...	ORPHA:1185
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged metacarpophalangeal joints, Enlarged epiphyses, Osteoporosis, Coxa vara, Jo...	OMIM:208230
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Delayed puberty, Oropharyngeal squamous cell carcinoma, Recurrent Aspergillus infections, Thyroid...	ORPHA:391487
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical s...	OMIM:122860
Scrub Typhus	Myocarditis, Skin rash, Hypotension, Anterior uveitis, Meningitis, Infectious encephalitis	ORPHA:83317
Epiphyseal Dysplasia, Multiple, 6	Flat distal femoral epiphysis, Irregular epiphyses, Flat capital femoral epiphysis, Arthralgia of...	OMIM:614135
Antley-Bixler Syndrome	Short nose, Anteverted nares, Delayed cranial suture closure, Femoral bowing, Choanal atresia, Jo...	ORPHA:83
Marshall-Smith Syndrome	Optic atrophy, Retrognathia, Short nose, Reduced bone mineral density, Slender long bone, Antever...	ORPHA:561
Eng-Strom Syndrome	Camptodactyly of finger, Arthritis, Brachydactyly	ORPHA:1937
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Delayed eruption of teeth, Short middle phalanx of the 5th finger, Abnormal e...	ORPHA:63442
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Short nose, Wide nose	OMIM:125700
Oculodentodigital Dysplasia, Autosomal Recessive	Long nose, Hypoplasia of the primary teeth, 2-4 toe cutaneous syndactyly, Narrow nose, Sparse eye...	OMIM:257850
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Hypoplasia of the maxilla, Slend...	OMIM:608154
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Genu valgum, Abnormality of radial epiphyses, Arthralg...	ORPHA:166002
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short distal phalanx of finger, Broad nasal tip, Osteolysis	ORPHA:2776
Lowry-Maclean Syndrome	Convex nasal ridge, Retrognathia, Short nose, Osteopenia, Widely patent coronal suture, Talon cus...	ORPHA:2409
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Depressed nasal tip, Long eyelashes, Camptodactyly of finger, Microgna...	ORPHA:2863
Developmental Dysplasia Of The Hip 2	Arthritis, Hip osteoarthritis, Coxa valga, Hip dysplasia	OMIM:615612
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal metaphysis morphology, Acne, Anemia, Hyperostosis, Arthritis, Vasculitis, Skin rash, Pal...	ORPHA:324964
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Delayed cranial suture closure, Shallow orbits, Arachnodactyly, Downslanted palpebral...	ORPHA:1129
Farber Lipogranulomatosis	Lipogranulomatosis, Osteolytic defects of the phalanges of the hand, Limitation of knee mobility,...	OMIM:228000
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Wild Type Abeta2M Amyloidosis	Congestive heart failure, Gastrointestinal hemorrhage, Abnormal shoulder morphology, Arthritis, A...	ORPHA:85446
Immunodeficiency 83, Susceptibility To Viral Infections	Herpes simplex encephalitis, Meningitis	OMIM:613002
Craniosynostosis, Herrmann-Opitz Type	Short nose, Craniosynostosis, Finger syndactyly, Split hand, Micrognathia, Malar flattening, Brac...	ORPHA:2145
Bacterial Toxic-Shock Syndrome	Skin rash, Severe varicella zoster infection, Sinusitis, Myocarditis, Severe viral infection, Pne...	ORPHA:36234
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Large fontanelles, Osteolytic defects of the phalanges of the hand, Arthritis, Arthro...	OMIM:259100
Gorham-Stout Disease	Mandibular pain, Abnormal ethmoid bone morphology, Abnormal bone ossification, Osteopenia, Abnorm...	ORPHA:73
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Choanal stenosis, Malar flatte...	OMIM:241310
Melorheostosis	Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, J...	ORPHA:2485
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology	ORPHA:100025
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Flattened metacarpal heads, Flattened metatarsal heads, Synovial lining hyperplasia, Arthritis, A...	OMIM:208250
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Ch...	OMIM:209920
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Irregular capital femoral epiphysis, Wide proximal femoral metaph...	OMIM:142669
Van Maldergem Syndrome 1	Joint hypermobility, Clinodactyly, Short 4th metacarpal, Camptodactyly, Short fourth metatarsal, ...	OMIM:601390
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Subperiosteal bone resorption, Delayed eruption of teeth, Enlargement of the wrists, Enl...	ORPHA:289157
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Abnormal limb bo...	ORPHA:2204
Otospondylomegaepiphyseal Dysplasia	Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il...	ORPHA:1427
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short nose, Telecanthus, Flared metaphysis, Anteverted nares, Decreased skull ossific...	OMIM:616897
Frontonasal Dysplasia 1	Short columella, Radial deviation of finger, Bifid nasal tip, Postaxial hand polydactyly, Camptod...	OMIM:136760
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Delayed puberty, Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Recurrent urinary trac...	OMIM:307200
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca...	ORPHA:457395
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim...	ORPHA:93320
Carpenter Syndrome 1	Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Genu var...	OMIM:201000
Schnitzler Syndrome	Anemia, Increased bone mineral density, Arthritis, Vasculitis, Skin rash, Leukocytosis, Increased...	ORPHA:37748
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor...	OMIM:311300
Pseudoachondroplasia	Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join...	OMIM:177170
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Congenital Atransferrinemia	Arthritis, Anemia	ORPHA:1195
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Pycnodysostosis	Absent frontal sinuses, Increased bone mineral density, Narrow iliac wing, Osteolytic defects of ...	OMIM:265800
Alpha-Mannosidosis	Chronic otitis media, Craniofacial hyperostosis, Arthritis, Mandibular prognathia, Synostosis of ...	ORPHA:61
Zika Virus Disease	Myelitis, Arthritis, Skin rash, Infectious encephalitis, Conjunctivitis, Intrauterine growth reta...	ORPHA:448237
Teebi Hypertelorism Syndrome 2	Short nose, Clinodactyly of the 5th finger, Upper eyelid coloboma, Delayed eruption of teeth, Wid...	OMIM:619736
Oculodentodigital Dysplasia	Clinodactyly, Taurodontia, Optic atrophy, Cranial hyperostosis, Anteverted nares, Carious teeth, ...	ORPHA:2710
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, 3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Teebi Hypertelorism Syndrome 1	Short nose, Bilateral ptosis, Highly arched eyebrow, Anteverted nares, Upslanted palpebral fissur...	OMIM:145420
Crouzon Syndrome	Optic atrophy, Choanal atresia, Multiple suture craniosynostosis, Hypoplasia of the maxilla, Ptos...	ORPHA:207
Complement Component C1R/C1S Deficiency	Arthritis, Discoid lupus rash, Nephritis	OMIM:216950
Premature Aging Syndrome, Penttinen Type	Retrognathia, Tibial bowing, Shallow orbits, Aplasia of the nasal bone, Flexion contracture of fi...	OMIM:601812
Pycnodysostosis	Hypoplastic iliac wing, Persistent open anterior fontanelle, Joint hypermobility, Delayed eruptio...	ORPHA:763
Cofs Syndrome	Optic atrophy, Prominent metopic ridge, Joint stiffness, Camptodactyly of finger, Micrognathia, A...	ORPHA:1466
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel...	OMIM:166600
Osteogenesis Imperfecta, Type Ix	Multiple prenatal fractures, Decreased calvarial ossification, Short lower limbs, Dentinogenesis ...	OMIM:259440
Progressive Osseous Heteroplasia	Ectopic ossification in muscle tissue, Limitation of joint mobility, Osteoarthritis, Brachydactyly	ORPHA:2762
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Shallow orbits, Broad thumb, Craniosynostos...	OMIM:166250
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Micrognathia, Anteverted nares, Epicanthus	ORPHA:2015
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Abnormality of the orbital region, Pterygium, Osteolysis involving...	ORPHA:371428
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Osteogenesis Imperfecta, Type Iii	Slender long bone, Wide anterior fontanel, Tibial bowing, Pulmonary arterial hypertension, Decrea...	OMIM:259420
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Enlargement of the wrists...	ORPHA:289176
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Retrognathia, Large fontanelles, Osteopetrosis, Spina bifida occu...	ORPHA:2780
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Recurrent infections, Herpes simplex encephalitis, Molluscum contagiosum,...	OMIM:618982
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Kerion Celsi	Lymphadenopathy	ORPHA:499
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Proximal phalangeal periosteal thickening, Osteolytic defects of the phalang...	OMIM:161700
Van Maldergem Syndrome 2	Joint hypermobility, Clinodactyly, Short 4th metacarpal, Short fourth metatarsal, Malar flattenin...	OMIM:615546
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Genu valgum, Wide nose, Mandibular prognathia, Deformed humeral heads, Depressed nasa...	ORPHA:2831
Pfapa Syndrome	Arthritis, Recurrent pharyngitis, Infectious encephalitis	ORPHA:42642
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ...	OMIM:305390
Cohen Syndrome	Optic atrophy, Genu valgum, Cubitus valgus, Bone spicule pigmentation of the retina, Neutropenia,...	OMIM:216550
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal hand metaphysis morphology, Joint stiffness, Abnormal metacarpophalangeal joint morpholo...	ORPHA:166011
Autosomal Recessive Kenny-Caffey Syndrome	Calvarial osteosclerosis, Delayed cranial suture closure, Decreased skull ossification, Thin long...	ORPHA:93324
Acrodysostosis 2 With Or Without Hormone Resistance	Short nose, Short metatarsal, Anteverted nares, Mandibular prognathia, Short metacarpal, Short ph...	OMIM:614613
Idiopathic Congenital Hypothyroidism	Bradycardia, Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, La...	ORPHA:95717
Greig Cephalopolysyndactyly Syndrome	1-3 toe syndactyly, Y-shaped metatarsals, Metopic synostosis, Delayed cranial suture closure, Pos...	OMIM:175700
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic...	ORPHA:3344
Opsismodysplasia	Abnormal metaphysis morphology, Short nose, Large fontanelles, Squared iliac bones, Hypoplastic p...	ORPHA:2746
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Thyroiditis, Skin rash, Cardiac arrest, Pustule, Infectious encephalitis, Erythroder...	ORPHA:139402
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Osteoporosis, Splenomegaly, Abnormal B cell count, Osteolysis	ORPHA:100024
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Wide anter...	OMIM:113000
Felty Syndrome	Chronic otitis media, Anemia, Recurrent pharyngitis, Arthritis, Abnormal lymphocyte morphology, L...	ORPHA:47612
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis	OMIM:619164
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,...	ORPHA:89936
Selective Igm Deficiency	Crohn's disease, Recurrent vulvovaginal candidiasis, Onychomycosis, Severe varicella zoster infec...	ORPHA:331235
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Pachydermoperiostosis	Gastrointestinal hemorrhage, Acne, Abnormal cortical bone morphology, Anemia, Arthritis, Seborrhe...	ORPHA:2796
Bruck Syndrome 2	Osteopenia, Pterygium, Elbow flexion contracture, Femoral bowing, Flexion contracture, Knee flexi...	OMIM:609220
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ...	OMIM:300554
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Joint hypermobilit...	ORPHA:2658
Distal Duplication 5Q	Hypoplasia of the ulna, Short nose, Hypoplasia of the radius, Eczematoid dermatitis, Carious teet...	ORPHA:96097
Kienbock Disease	Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis	ORPHA:97332
Cleidocranial Dysplasia	Chronic otitis media, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abn...	ORPHA:1452
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Abno...	OMIM:250460
Bruck Syndrome	Pterygium, Bowing of the long bones, Osteoporosis, Joint stiffness, Wormian bones, Arthrogryposis...	ORPHA:2771
Camptodactyly Syndrome, Guadalajara Type 1	Short nose, Cubitus valgus, Telecanthus, Highly arched eyebrow, Anteverted nares, Mandibular prog...	ORPHA:1327
Coronary Arterial Fistula	Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Cardiomegaly, Right vent...	ORPHA:2041
Geroderma Osteodysplasticum	Osteopenia, Periodontitis, Hyperextensibility of the finger joints, Mandibular prognathia, Femora...	OMIM:231070
Aarskog-Scott Syndrome	Congestive heart failure, Clinodactyly of the 5th finger, Delayed eruption of teeth, Genu recurva...	ORPHA:915
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip subluxation, Hip osteoarthritis, Arthralgia of the hip, Wide distal femoral metaphysis, Dyspl...	ORPHA:99642
Non-Distal Duplication 10Q	Short nose, Micrognathia, Downslanted palpebral fissures, Joint hypermobility, Convex nasal ridge...	ORPHA:1695
Gomez-Lopez-Hernandez Syndrome	Short nose, Anteverted nares, Wide anterior fontanel, Downslanted palpebral fissures, Malar flatt...	OMIM:601853
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthriti...	OMIM:607850
Otopalatodigital Syndrome Type 1	Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Increased bone mineral d...	ORPHA:90650
Acromicric Dysplasia	Short nose, Abnormal femur morphology, Anteverted nares, Short metacarpal, Long eyelashes, Joint ...	ORPHA:969
Cole-Carpenter Syndrome 1	Osteopenia, Reduced bone mineral density, Shallow orbits, Coronal craniosynostosis, Micrognathia,...	OMIM:112240
Frank-Ter Haar Syndrome	Short long bone, Wormian bones, Anteverted nares, Osteoporosis, Camptodactyly, Short palm, Downsl...	OMIM:249420
14Q11.2 Microdeletion Syndrome	Short nose, Highly arched eyebrow, Sparse lateral eyebrow, Toe clinodactyly, Micrognathia, Epican...	ORPHA:261120
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Colon canc...	ORPHA:97290
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Reynolds Syndrome	Arthritis, Skin rash, Telangiectasia of the skin, Infectious encephalitis, Mucosal telangiectasia...	ORPHA:779
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs	ORPHA:882
Lymphoproliferative Syndrome 2	EBV encephalitis, Persistent EBV viremia, Recurrent infections, Lymphoma, Severe varicella zoster...	OMIM:615122
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Colon canc...	ORPHA:319487
Crouzon Syndrome	Optic atrophy, Deviated nasal septum, Lambdoidal craniosynostosis, Mandibular prognathia, Shallow...	OMIM:123500
Osteogenesis Imperfecta, Type Xiii	Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral metaphysis, Disloc...	OMIM:614856
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Congenital Enterovirus Infection	Myocarditis, Skin rash, Cardiomyopathy, Hypotension, Meningitis, Pericardial effusion, Hepatitis,...	ORPHA:292
Legionnaires Disease	Myocarditis, Pancreatitis, Recurrent pharyngitis, Hypotension, Pericarditis, Endocarditis, Arrhyt...	ORPHA:549
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, Arthritis, B lymphocytopenia, T lymphocytopenia, Purulent rhinitis, Oti...	OMIM:601457
Neurocutaneous Melanocytosis	Infectious encephalitis, Melanoma, Intracranial hemorrhage, Neoplasm	ORPHA:2481
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Pulmonary insufficiency, Large fontanelles, Congestive heart fai...	OMIM:166210
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Orofaciodigital Syndrome Ii	Bifid nasal tip, Syndactyly, Metaphyseal irregularity, Postaxial hand polydactyly, Short palm, Br...	OMIM:252100
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, Narrow iliac wing, Coronal craniosynostosis, Downslanted...	OMIM:616294
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Recurrent otitis media, Hyperextensibility at elbow, Periarticular soft-tiss...	OMIM:601492
Pfeiffer Syndrome Type 1	Short nose, Aplasia/Hypoplasia of the thumb, Bicoronal synostosis, Short hallux, Finger syndactyl...	ORPHA:93258
Nablus Mask-Like Facial Syndrome	Retrognathia, Short nose, Short palpebral fissure, Telecanthus, Sandal gap, Highly arched eyebrow...	OMIM:608156
Crigler-Najjar Syndrome	Infectious encephalitis	ORPHA:205
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Familial Avascular Necrosis Of Femoral Head	Abnormal femoral neck/head morphology, Limited hip movement, Hip osteoarthritis, Flattened femora...	ORPHA:86820
Dysspondyloenchondromatosis	Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Joint dislocation,...	ORPHA:85198
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Wormian bones, Multiple prenatal fractures, Bowing of limbs due to multiple fractures, Decreased ...	OMIM:259410
Saethre-Chotzen Syndrome	Convex nasal ridge, Optic atrophy, Clinodactyly of the 5th finger, Triphalangeal thumb, Finger sy...	ORPHA:794
Multiple Epiphyseal Dysplasia Type 5	Avascular necrosis of the capital femoral epiphysis, Genu valgum, Intervertebral disk degeneratio...	ORPHA:93311
Tenorio Syndrome	Osteopenia, Recurrent aphthous stomatitis, Wide nose, Telecanthus, Anteverted nares, Delayed cran...	OMIM:616260
Spondyloepiphyseal Dysplasia Tarda	Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os...	ORPHA:93284
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose, Telecanthus, Camptodactyly, Persistent open anterior fontanelle, Arachnodactyly, Down...	OMIM:615539
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Highly arched eyebrow, Absen...	OMIM:620662
Codas Syndrome	Short nose, Midline defect of the nose, Delayed eruption of teeth, Abnormal dental enamel morphol...	ORPHA:1458
Meningococcal Meningitis	Skin rash, Hypotension, Infectious encephalitis, Shock	ORPHA:33475
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Optic atrophy, Short nose, Overlapping fingers, Telecanthus, Narrow nasal bridge, Low hanging col...	OMIM:619383
Baraitser-Winter Cerebrofrontofacial Syndrome	Retrognathia, Long nose, Palpebral edema, Highly arched eyebrow, Joint stiffness, Transient ische...	ORPHA:2995
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Joint hypermobility, Cone-shaped epiphysis, Bilateral coxa va...	ORPHA:439822
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Gm1 Gangliosidosis	Congestive heart failure, Cardiomyopathy, Aspiration pneumonia, Short stature, Abnormal heart mor...	ORPHA:354
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Grant Syndrome	Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Abnorm...	ORPHA:363417
Multicentric Reticulohistiocytosis	Arthritis, Histiocytosis	ORPHA:139436
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Palpebral edema, Mandibular prognathia, Prominent metopic ridge, Downslanted palpebra...	ORPHA:261144
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Large tarsal bones, Flared metaphysis, Anteverted nares, Short long bone, Aplasia/Hypoplasia of t...	OMIM:215150
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Retrognathia, Telecanthus, Wide anterior fontanel, Short long bone,...	OMIM:263210
Hypochondroplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal pelvic girdle bone morphology...	ORPHA:429
Trichorhinophalangeal Syndrome, Type I	Short metacarpal, Cone-shaped epiphyses of the proximal phalanges of the hand, Clinodactyly, Ivor...	OMIM:190350
Gorlin-Chaudhry-Moss Syndrome	Upper eyelid coloboma, Abnormal metacarpal morphology, Abnormal eyelid morphology, Coronal cranio...	ORPHA:2095
Marbach-Rustad Progeroid Syndrome	Pulmonary insufficiency, Femur fracture, Reduced bone mineral density, Short clavicles, Eruption ...	OMIM:619322
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normocytic anemia, Normochromic anemia, Retinal neovascularization, ...	ORPHA:247691
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Amelogenesis imperfecta, Genu valgum, Small epiphyses, Mandibular prognathia, Short long bone, Ca...	OMIM:618363
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Generalized joint hypermobility, Bilateral ptosis, Cervical C2/C3 vertebral fusion, H...	OMIM:618000
Bartsocas-Papas Syndrome	Popliteal pterygium, Short nose, Sparse or absent eyelashes, Finger syndactyly, Synostosis of joi...	ORPHA:1234
Chromosome 3Pter-P25 Deletion Syndrome	Retrognathia, Low hanging columella, Highly arched eyebrow, Anteverted nares, Blepharophimosis, T...	OMIM:613792
Chung-Jansen Syndrome	Short nose, Clinodactyly of the 5th finger, Anteverted nares, Synophrys, Micrognathia, Thick eyeb...	OMIM:617991
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis, Micrognathia, Short long bone, Flared elbow metaphyses	ORPHA:1423
Robinow-Sorauf Syndrome	Long nose, Bilateral ptosis, Shallow orbits, Broad thumb, Downslanted palpebral fissures, Broad h...	OMIM:180750
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short long bone, Metaphyseal irregularity, Joint hypermobility, Hip dislocation, Telangiectasia o...	OMIM:616007
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Narrow nasal ridge, Delayed cranial suture closure, Osteolytic defects of the distal ...	OMIM:608612
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Coffin-Siris Syndrome 6	Retrognathia, Micrognathia, Downslanted palpebral fissures, Broad nasal tip, Epicanthus, Brachyda...	OMIM:617808
17P13.3 Microduplication Syndrome	Short nose, Clinodactyly of the 5th finger, Wide nose, Congenital hip dislocation, Downslanted pa...	ORPHA:217385
Avian Influenza	Congestive heart failure, Myelitis, Meningitis, Conjunctivitis, Pneumonia, Hepatitis, Infectious ...	ORPHA:454836
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Metaphyseal irregularity, Genu valgum, Hypophosphatemic rickets, Fibular bowing, Cupped ...	OMIM:307800
Isolated Agammaglobulinemia	Clinodactyly of the 5th toe, Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, S...	ORPHA:229717
Whipple Disease	Myocarditis, Gastrointestinal hemorrhage, Myositis, Arthritis, Hypotension, Pericarditis, Infecti...	ORPHA:3452
Intellectual Developmental Disorder, Autosomal Dominant 70	Retrognathia, Short palpebral fissure, Retinal telangiectasia, Low hanging columella, Retinal det...	OMIM:620157
Familial Expansile Osteolysis	Thin bony cortex, Pathologic fracture, Osteolysis, Bowing of the long bones	OMIM:174810
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Long nose, Aplasia/hypoplasia involving bones of the upper limbs, Sparse or abse...	ORPHA:221016
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Lattice retinal d...	OMIM:619248
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Arthritis, Limitation of joint mobility, Calcification of cartilage, Osteoarth...	ORPHA:1416
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Arthropathy, Osteoarthritis	OMIM:118600
Dysplasia Epiphysealis Hemimelica	Tarsal synostosis, Genu valgum, Abnormal femur morphology, Irregular epiphyses, Joint stiffness, ...	ORPHA:1822
Laron Syndrome	Delayed eruption of teeth, Depressed nasal ridge, Micrognathia, Short toe, Osteoarthritis, Brachy...	ORPHA:633
Van Den Ende-Gupta Syndrome	Dislocated radial head, Femoral bowing, Arachnodactyly, Abnormal eyebrow morphology, Slender meta...	OMIM:600920
Autosomal Recessive Primary Microcephaly	Upslanted palpebral fissure, Abnormal cortical bone morphology	ORPHA:2512
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Short nose, Anteverted nares, Hypertrophic cardiomyopathy, Pulmonic stenosis, Carious teeth, Epic...	ORPHA:2701
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Hypoplastic iliac wing, Short long bone, Short metacarpal, Small epiphyses, Single interphalangea...	OMIM:611717
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Angulated humerus, Short long bone, Bowing of the long bones, Decreased calvarial oss...	OMIM:616229
Serrated Polyposis Syndrome	Ovarian neoplasm, Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Prostate...	ORPHA:157798
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short finger, Small epiphyses, Anteverted nares, Optic disc pallor, Flared iliac wing, Coxa vara,...	OMIM:300232
Microphthalmia With Limb Anomalies	Retrognathia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypo...	OMIM:206920
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Pancytopenia, Sterile abscess, Arthritis, Elbow flexion contracture, Sterile arthritis, Cys...	OMIM:604416
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Arthritis, Limitation of joint mobility, Lymphopenia	ORPHA:2582
Osteogenesis Imperfecta, Type Xxi	Osteoporosis, Coxa vara, Bowing of the arm, Wormian bones, Joint hypermobility, Bowing of the leg...	OMIM:619131
Kniest Dysplasia	Bilateral ptosis, Enlarged metaphyses, Short long bone, Lattice retinal degeneration, Rhegmatogen...	ORPHA:485
Multiple Epiphyseal Dysplasia Type 4	Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bone morphol...	ORPHA:93307
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Optic atrophy, Short nose, Camptodactyly of finger, Micrognathia, Recurrent pneumonia	ORPHA:1495
Portal Hypertension, Noncirrhotic, 1	Esophageal varix, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Peho-Like Syndrome	Optic atrophy, Retrognathia, Short nose, Epicanthus, Tapered finger	OMIM:617507
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Palpebral edema, Clinodactyly of the 2nd finger, Optic nerve hypoplasia, Dermatochalasis, Decreas...	ORPHA:221139
New-Onset Refractory Status Epilepticus	Autoimmunity, Infectious encephalitis	ORPHA:363558
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Short nose, Telecanthus, Anteverted nares, Aspiration pneumonia, Prominent metopic r...	ORPHA:314655
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract, Epiphyseal stippling, Ventricular septal defect, Hepatomegaly	OMIM:614876
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Large fontanelles, Delayed cranial suture closu...	ORPHA:2249
Atelosteogenesis, Type Iii	Widened distal phalanges, Tombstone-shaped proximal phalanges, Sandal gap, Hitchhiker thumb, Tibi...	OMIM:108721
Hypomandibular Faciocranial Dysostosis	Short nose, Anteverted nares, Maxillozygomatic hypoplasia, Downslanted palpebral fissures, Choana...	ORPHA:1790
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Upper eyelid coloboma, Telecanthus, Hypoplasia of the maxilla, Co...	OMIM:167730
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Hypoplasia of the maxilla, Broad thumb, Downslanted palpebral fis...	ORPHA:261295
Craniosynostosis 2	Supernumerary tooth, Triphalangeal thumb, Unicoronal synostosis, Bicoronal synostosis, Metopic sy...	OMIM:604757
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short long bone, Dumbbell-shaped long bone, Hypoplastic ischia, Fib...	OMIM:228520
Stickler Syndrome, Type I	Abnormal femoral epiphysis morphology, Retinal detachment, Arthritis, Arthropathy, Anteverted nar...	OMIM:108300
Dracunculiasis	Arthritis, Skin rash, Limitation of joint mobility, Flexion contracture, Recurrent cutaneous absc...	ORPHA:231
Agammaglobulinemia, X-Linked	Recurrent otitis media, Pyoderma, Prostatitis, Recurrent lower respiratory tract infections, Recu...	OMIM:300755
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Co...	OMIM:613101
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint stiffness, Abnormal metacarpophalangeal joint morphology, Synovitis, Hepatosplenomegaly, Ab...	ORPHA:85408
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Micrognathia, Retinal neovascularization, Atopic dermatitis	OMIM:619074
Caffey Disease	Increased circulating antibody level, Calvarial hyperostosis, Periosteal thickening of long tubul...	ORPHA:1310
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Adducted thumb, Small epiphyses, Short long bone, Knee dislocation, Joint hypermobi...	OMIM:620269
Dent Disease 1	Rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ossification, Enlargement ...	OMIM:300009
Cerebral Visual Impairment	Ischemic stroke, Intracranial hemorrhage, Unusual CNS infection, Meningitis, Infectious encephalitis	ORPHA:447788
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Congenital stationary night blindness, Metopic depression, Short clavicles, Steep ace...	ORPHA:313855
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Retrognathia, Short nose, Downslanted palpebral fissures, Broad nasal tip, Malar flattening	OMIM:613670
Behçet Disease	Gastrointestinal hemorrhage, Optic neuritis, Cerebral ischemia, Pericarditis, Aortic regurgitatio...	ORPHA:117
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Multiple joint dislocation, Slender metacarpals, Metaphyseal irregularity, Joint hypermobility, G...	ORPHA:93360
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Mandibular prognathia, Depressed nasal ridge, Hypoplasia...	ORPHA:1248
Odontochondrodysplasia 1	Irregular epiphyses, Small epiphyses, Delayed eruption of teeth, Genu recurvatum, Cone-shaped epi...	OMIM:184260
Autosomal Agammaglobulinemia	Chronic otitis media, Arthritis, Skin rash, Sinusitis, Epicanthus, Conjunctivitis, Bronchiectasis...	ORPHA:33110
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu valgum, Telecanthus, Dislocated radial head, Genu recurvatum, Wide anterior font...	OMIM:182212
Lessel-Kreienkamp Syndrome	Clinodactyly of the 5th finger, Pulmonic stenosis, Wide cranial sutures, Epicanthus, Dental maloc...	OMIM:619149
Dermatoosteolysis, Kirghizian Type	Abnormal metaphysis morphology, Abnormality of the wrist, Tarsal synostosis, Abnormal diaphysis m...	ORPHA:1657
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Short nose, Large fontanelles, Rocker bottom foot, Triphalangeal thumb, Calcaneova...	ORPHA:3078
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Large fontanelles, Narrow nasal ridge, Bowing of the long bones, Congenital hip dislo...	OMIM:612940
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Gastric vari...	ORPHA:64743
Cerebrofacioarticular Syndrome	Osteopenia, Large fontanelles, Caudal appendage, Bilateral choanal atresia/stenosis, Tracheomalac...	ORPHA:314679
Craniosynostosis 6	Spina bifida occulta, Bicoronal synostosis, Right unilambdoid synostosis, Delayed cranial suture ...	OMIM:616602
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Telecanthus, Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Atopic dermatitis, Hypo...	ORPHA:397973
Rothmund-Thomson Syndrome	Aplastic anemia, Reduced bone mineral density, Skin rash, Neutropenia, Hypoplasia of the ulna, Me...	ORPHA:2909
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Stuve-Wiedemann Syndrome 1	Wide nasal base, Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bo...	OMIM:601559
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Abnormal metacarpal morphology, Osteoarthritis, Malar flattening	ORPHA:166100
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Genu valgum, Abnormal metacarpal morphology, Telecanthus...	ORPHA:1295
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ...	ORPHA:93314
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Depressed nasa...	OMIM:118651
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Autosomal Dominant Omodysplasia	Short nose, Short palm, Micrognathia, Short humerus, Malar flattening, Short 1st metacarpal, Pate...	ORPHA:93328
Shprintzen-Goldberg Syndrome	Osteopenia, Retrognathia, Abnormal metaphysis morphology, Genu valgum, Telecanthus, Anteverted na...	ORPHA:2462
Diaphanospondylodysostosis	Absent in utero rib ossification, Short nose, Large fontanelles, Hammertoe, Tracheomalacia, Absen...	OMIM:608022
Peripartum Cardiomyopathy	Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur...	ORPHA:563
Activated Pi3K-Delta Syndrome	Recurrent otitis media, Arthritis, B lymphocytopenia, Decreased circulating antibody level, Bronc...	ORPHA:397596
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Anemia, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Short long bone, Upper-limb met...	OMIM:618728
ERI1-related disease	Limited elbow extension, Osteopenia, Clinodactyly of the 5th finger, Dislocated radial head, Olig...	OMIM:608739
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Low hanging columella, Mandibular prognathia, Synophrys, Broad thumb, Prominent nasal bridge, Epi...	OMIM:619880
Diastrophic Dysplasia	Short finger, Genu valgum, Irregular epiphyses, Hitchhiker thumb, Short long bone, Hip contractur...	OMIM:222600
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Hypertension, Sinus tachycardia, Joint stiffness, Pathologic fracture, De...	OMIM:614008
Listeriosis	Myocarditis, Congestive heart failure, Unusual skin infection, Pyelonephritis, Arteritis, Meningi...	ORPHA:533
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Pseudomyxoma Peritonei	Intestinal obstruction, Lymphadenopathy, Abnormal peritoneum morphology, Ascites, Inflammation of...	ORPHA:26790
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Osteoporosis, Biliary tract abnor...	ORPHA:79301
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Short palpebral fissure, Recurrent otitis media, Anteverted nares, Camptodactyly, Mic...	OMIM:613604
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
3Mc Syndrome 2	Limited elbow movement, Caudal appendage, Highly arched eyebrow, Blepharophimosis, Depressed nasa...	OMIM:265050
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares, Epicanthus	ORPHA:1450
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Multiple pterygia	OMIM:601809
Osteogenesis Imperfecta, Type Viii	Osteopenia, Slender long bone, Femoral retroversion, Wide anterior fontanel, Femoral bowing, Tibi...	OMIM:610915
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Optic nerve hypoplasia, ...	OMIM:618736
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Reduced bone mineral density, Genu valgum, Spina bifida occulta, Synophrys	ORPHA:2983
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Brachydactyly	ORPHA:435804
Osteogenesis Imperfecta, Type Xi	Osteopenia, Coxa vara, Protrusio acetabuli, Dentinogenesis imperfecta, Wormian bones, Joint hyper...	OMIM:610968
Achondrogenesis	Short nose, Abnormality of bone mineral density, Anteverted nares, Abnormal enchondral ossificati...	ORPHA:932
Brachyolmia Type 1, Hobaek Type	Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabu...	OMIM:271530
Saethre-Chotzen Syndrome	Long nose, Shallow orbits, Prominent crus of helix, Partial duplication of the distal phalanx of ...	OMIM:101400
Marshall Syndrome	Short nose, Genu valgum, Abnormal vitreous humor morphology, Retinal detachment, Anteverted nares...	ORPHA:560
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis, Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenome...	OMIM:612840
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Dela...	ORPHA:93346
Keipert Syndrome	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Hypoplasia of the m...	ORPHA:2662
Weiss-Kruszka Syndrome	Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Highly arched eyebrow, A...	OMIM:618619
Nail-Patella Syndrome	Reduced bone mineral density, Abnormal femur morphology, Dislocated radial head, Contracture of t...	ORPHA:2614
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Recurrent otitis media, Absent isohemagglutinin level, Increased cir...	OMIM:615559
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Delayed ossification of carpal bones, Metaphyseal irregularity, Genu varum, Neutropenia, Flat cap...	OMIM:271510
Hartnup Disease	Short stature, Skin rash, Infectious encephalitis	ORPHA:2116
Foxp1 Syndrome	Retrognathia, Short nose, Recurrent otitis media, Blepharophimosis, Mandibular prognathia, Promin...	ORPHA:391372
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Pierpont Syndrome	Short nose, Short finger, Wide nose, Telecanthus, Prominent fingertip pads, Short foot, Short pal...	OMIM:602342
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu...	ORPHA:73263
20Q11.2 Microduplication Syndrome	Limited elbow extension, Retrognathia, Short nose, Palpebral edema, Clinodactyly of the 5th finge...	ORPHA:363659
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Genu valgum, Short metatarsal, Upper limb undergrowth, Short metacarpal,...	OMIM:271650
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Dislocated radial head, Limited elbow extension and supination, Synophrys, Downslante...	ORPHA:401935
Anti-Glomerular Basement Membrane Disease	Anemia, Retinal detachment, Arthritis, Vasculitis, Persistence of primary teeth	ORPHA:375
Marshall Syndrome	Small proximal tibial epiphyses, Irregular femoral epiphysis, Irregular proximal tibial epiphyses...	OMIM:154780
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Short nose, Clinodactyly of the 5th finger, Sandal gap, Spina bifida occulta, Anterio...	OMIM:617877
Arthrogryposis, Distal, Type 2A	Rocker bottom foot, Flexion contracture of toe, Wrist flexion contracture, Flexion contracture of...	OMIM:193700
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Abnormality of bone mineral density, Temporomandibular joint ankylosis,...	ORPHA:2741
Sapho Syndrome	Acne, Hyperostosis, Arthritis, Vasculitis, Skin rash, Synovitis, Palmoplantar pustulosis, Pustule...	ORPHA:793
Brachytelephalangic Chondrodysplasia Punctata	Short nose, Optic disc hypoplasia, Epiphyseal stippling of toe phalanges, Epiphyseal stippling, C...	ORPHA:79345
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metacarpal heads, Osteoarthritis, Hip osteoarthritis, Flattened metatarsal heads	OMIM:271600
Squamous Cell Carcinoma Of The Anal Canal	Rectal prolapse, Anal stenosis, Lymphadenopathy, Anal canal squamous cell carcinoma, Neoplasm of ...	ORPHA:424019
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Herpes simplex encephalitis, Recurrent aphthous stomatitis	OMIM:614850
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Short nose, Ectropion, Hypoplasia of the radius, Abnormal metacarpal morp...	ORPHA:3258
Achondrogenesis Type 1A	Short nose, Anteverted nares, Short foot, Abnormal enchondral ossification, Short palm, Micrognat...	ORPHA:93299
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Nocardiosis	Scleritis, Thyroiditis, Abnormal heart valve morphology, Meningitis, Lymphadenitis, Severe infect...	ORPHA:31204
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Fibular bowing, Tibial bowing, Bowing of the long bones, Shallow orbits,...	OMIM:613848
Periventricular Nodular Heterotopia 7	Short nose, 1-4 toe syndactyly, Clinodactyly of the 5th finger, Anteverted nares, 2-3 toe syndact...	OMIM:617201
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Jackson-Weiss Syndrome	Abnormal fibula morphology, Short metatarsal, Mandibular prognathia, 2-3 toe syndactyly, Broad me...	ORPHA:1540
Odontochondrodysplasia	Abnormal metaphysis morphology, Retrognathia, Short nose, Square pelvis bone, Delayed eruption of...	ORPHA:166272
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ...	OMIM:119600
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Broad eyebrow, Telecanthus, Mandibular prognathia, Prominent metopic ridge...	OMIM:620475
Linear Iga Dermatosis	Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm, Epistaxis, Autoimmunity	ORPHA:46488
Idiopathic Non-Lupus Full-House Nephropathy	Arthritis, Skin rash, Hypertension, Synovitis, Serositis, Glomerulonephritis	ORPHA:567544
Menkes Disease	Metaphyseal spurs, Osteoporosis, Metaphyseal widening, Intracranial hemorrhage, Wormian bones, Jo...	OMIM:309400
Cdags Syndrome	Ectropion, Large fontanelles, Lambdoidal craniosynostosis, Short clavicles, Delayed cranial sutur...	OMIM:603116
Hypothyroidism, Congenital, Nongoitrous, 6	Wormian bones, Anemia, Delayed eruption of teeth, Congenital hip dislocation	OMIM:614450
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Short metatarsal, Delayed eruption of teeth, Dislocated radial head, Anteverted na...	OMIM:101800
C Syndrome	Short nose, Radial deviation of finger, Dislocated radial head, Anteverted nares, Postaxial hand ...	OMIM:211750
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Slipped Femoral Capital Epiphyses	Hip osteoarthritis, Proximal femoral epiphysiolysis	OMIM:182260
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Anteverted nares, Short long bone, Coarse metaphyseal trabecularization, Metaphyseal ...	OMIM:618961
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Developmental And Epileptic Encephalopathy 73	Short nose, Hip dysplasia, Flexion contracture, Narrow nasal bridge	OMIM:618379
Craniosynostosis 4	Retrognathia, Lambdoidal craniosynostosis, Bicoronal synostosis, Optic nerve hypoplasia, Coronal ...	OMIM:600775
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Osteoarthritis With Mild Chondrodysplasia	Joint stiffness, Knee osteoarthritis, Heberden's node, Hip osteoarthritis	OMIM:604864
Otopalatodigital Syndrome Type 2	Flared iliac wing, Hypoplastic frontal sinuses, Fibular aplasia, Tarsal synostosis, Abnormal meta...	ORPHA:90652
C1Q Deficiency 2	Recurrent otitis media, Anemia, Malar rash, Arthritis, Discoid lupus rash, Chilblains, Vasculitis...	OMIM:620321
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Triangular shaped distal phalanges of the hand, Short long bone, Short metacarpal, Flared iliac w...	OMIM:271665
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy, Osteolysis	ORPHA:158014
Intellectual Developmental Disorder, Autosomal Recessive 68	Broad eyebrow, Synophrys, Hypoplasia of the maxilla, Narrow palpebral fissure, Wide nasal bridge	OMIM:618302
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia	ORPHA:100083
Mosaic Variegated Aneuploidy Syndrome 2	Short nose, Short palpebral fissure, Clinodactyly of the 5th finger, Aortic regurgitation, Microg...	OMIM:614114
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
White-Kernohan Syndrome	Retrognathia, Short nose, Short palpebral fissure, Recurrent otitis media, Telecanthus, Anteverte...	OMIM:619426
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Short nose, Hypoplasia of the ulna, Lambdoidal craniosynostosis, Anteverted nares, Re...	OMIM:615398
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Retinal detachm...	OMIM:609616
Schneckenbecken Dysplasia	Short nose, Snail-like ilia, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Ad...	OMIM:269250
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Tapered finger, Hypoplasia of the maxilla, Camptodactyly of finger, Short palm, Prominent nasal b...	ORPHA:85279
Immunodeficiency, Common Variable, 2	Recurrent otitis media, Recurrent bronchitis, Neoplasm, Lymphoma, Recurrent pneumonia, Recurrent ...	OMIM:240500
Cohen Syndrome	Abnormal hip bone morphology, Sandal gap, Arachnodactyly, Joint hypermobility, Neutropenia, Optic...	ORPHA:193
Maxillonasal Dysplasia, Binder Type	Short nose, Short distal phalanx of finger, Dental malocclusion, Depressed nasal bridge, Short co...	OMIM:155050
Peripheral Dysostosis	Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Distal Deletion 10Q	Sandal gap, Prominent fingertip pads, Craniosynostosis, Clinodactyly, Hip dislocation, 2-3 toe cu...	ORPHA:96148
Achondrogenesis Type 1B	Short nose, Anteverted nares, Abnormal enchondral ossification, Micrognathia, Short foot	ORPHA:93298
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Testicular seminoma, Hypogonadism, Abnormal stomach morphology, Cryptorchidism	ORPHA:281090
Martsolf Syndrome 1	Slender ulna, Cardiomyopathy, Short metacarpal, Broad femoral neck, Joint hypermobility, Osteopat...	OMIM:212720
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis, Abnormal pelvis bone morphology	ORPHA:2206
Diffuse Cutaneous Systemic Sclerosis	Congestive heart failure, Arthritis, Hypertensive crisis, Pulmonary arterial hypertension, Cariou...	ORPHA:220393
Mietens Syndrome	Hypoplasia of the ulna, Short nose, Hypoplasia of the radius, Abnormal fibula morphology, Clinoda...	ORPHA:2557
Microsporidiosis	Myocarditis, Prostatitis, Pancreatitis, Cholangitis, Myositis, Thyroiditis, Keratoconjunctivitis,...	ORPHA:2552
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Sparse or absent eyelashes, Short metacarpal, Genu varum, Neutropenia, Finger sy...	ORPHA:221008
Osteogenesis Imperfecta	Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Dislocated...	ORPHA:666
Incontinentia Pigmenti	Congestive heart failure, Skin rash, Cerebral ischemia, Pulmonary arterial hypertension, Retinal ...	ORPHA:464
Osteoarthritis Susceptibility 2	Heberden's node, Osteoarthritis	OMIM:140600
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Short palpebral fissure, Proximal placement of thumb, Telecanthus, Tracheomalacia, Wi...	OMIM:217980
Ruvalcaba Syndrome	Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Abnormal vertebral epiph...	ORPHA:3121
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Long palpebral fissure, Shortening of all distal phalanges of the fingers, Broad nasa...	OMIM:614749
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp...	OMIM:614700
Craniolenticulosutural Dysplasia	Large fontanelles, Wide nose, Delayed eruption of teeth, Decreased skull ossification, Hypoplasia...	ORPHA:50814
Poliomyelitis	Myelitis, Hypertension, Hypovolemic shock, Hypotension, Meningitis, Infectious encephalitis	ORPHA:2912
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Short nose, Ankle flexion contracture, Long eyelashes, Small anterior fontanelle, Micrognathia, N...	OMIM:617802
Dysosteosclerosis	Broad femoral neck, Delayed closure of the anterior fontanelle, Absent paranasal sinuses, Optic a...	OMIM:224300
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Majeed Syndrome	Metaphyseal irregularity, Acne, Hypochromic microcytic anemia, Increased bone mineral density, Le...	ORPHA:77297
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Clinodactyly, Narrow nose, Hip dislocation, Taurodontia, Ant...	OMIM:164200
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal dental e...	ORPHA:2050
Sandestig-Stefanova Syndrome	Rocker bottom foot, Retrognathia, Highly arched eyebrow, Sparse medial eyebrow, Laterally extende...	OMIM:618804
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Dentinoge...	OMIM:166220
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Short nose, Pathologic fracture, Anteverted nares, Elbow flexion contracture, Shallow...	OMIM:612394
Localized Scleroderma	Abnormality of the nose, Abnormal facial skeleton morphology, Sclerosis of finger phalanx, Arthri...	ORPHA:90289
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Retrognathia, Short nose, Anteverted nares, B lymphocytopenia, Decreased circulating antibody lev...	OMIM:614069
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi...	OMIM:144750
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short nose, Short palpebral fissure, Aplasia of the distal phalanx of the 5th toe, Telecanthus, U...	ORPHA:364577
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Distal Duplication 18Q	Short nose, Clinodactyly of the 5th finger, Anteverted nares, Choanal atresia, Deviation of finge...	ORPHA:1716
Blomstrand Lethal Chondrodysplasia	Short nose, Telecanthus, Flared metaphysis, Increased bone mineral density, Anteverted nares, Met...	ORPHA:50945
Intellectual Developmental Disorder, Autosomal Dominant 65	Clinodactyly of the 5th finger, Anteverted nares, Short foot, Prominent metopic ridge, Synophrys,...	OMIM:619320
Caffey Disease	Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Cortical irregularity, Perio...	OMIM:114000
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Retrognathia, Highly arched ...	OMIM:615485
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Long nose, Enlarged metaphyses, Short metac...	ORPHA:508533
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Optic atrophy, Short nose, Medial flaring of the eyebrow, Hammertoe, Retinal detachment, Long eye...	OMIM:619833
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Senior-Loken Syndrome	Nephronophthisis, Abnormality of bone mineral density, Abnormality of retinal pigmentation, Chron...	ORPHA:3156
Apert Syndrome	Chronic otitis media, Limited elbow movement, Shallow orbits, Broad thumb, Syndactyly, Craniosyno...	OMIM:101200
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Cubitus valgus, Multiple rows of eyelashes, Curly eyelashes, Blepharophimosis, Anteverted nares, ...	ORPHA:163654
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Muckle-Wells Syndrome	Abnormality of the nose, Optic atrophy, Anemia, Recurrent aphthous stomatitis, Arthritis, Vasculi...	ORPHA:575
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos...	ORPHA:98848
Donnai-Barrow Syndrome	Short nose, Retinal dystrophy, Retinal detachment, Wide anterior fontanel, Downslanted palpebral ...	ORPHA:2143
Vitamin K Antagonist Embryofetopathy	Optic atrophy, Short nose, Epiphyseal stippling, Anteverted nares, Choanal atresia, Brachydactyly...	ORPHA:1914
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Wrist swelling, Osteoarthritis of the elbow, Knee osteoarthritis, Polyarticular arthropathy, Bone...	ORPHA:2848
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Osteoarthritis	ORPHA:93283
Faciocardiomelic Syndrome	Osteopenia, Polydactyly, Telecanthus, Slender long bone, Anteverted nares, Hypoplastic pelvis, Th...	OMIM:612731
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Optic nerve hypoplasia, Abnormal femoral head morpho...	ORPHA:536471
X-Linked Agammaglobulinemia	Chronic otitis media, Anemia, Arthritis, Skin rash, Sinusitis, Recurrent pneumonia, Thrombocytope...	ORPHA:47
Immunodeficiency 49	Short palpebral fissure, Impaired lymphocyte transformation with phytohemagglutinin, Abnormally l...	OMIM:617237
Verheij Syndrome	Retrognathia, Short nose, Anteverted nares, Optic nerve hypoplasia, Clinodactyly, Broad nasal tip...	OMIM:615583
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
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Short nasal septum, Epiphyseal stippling, Anosmia, Short distal phalanx of finger, De...	OMIM:302950
Poikiloderma With Neutropenia	Retrognathia, Skin rash, Joint stiffness, Recurrent sinusitis, Leukopenia, Splenomegaly, Joint hy...	OMIM:604173
Au-Kline Syndrome	Retrognathia, Bifid nasal tip, Hypertension, Shallow orbits, Overlapping toe, Craniosynostosis, C...	OMIM:616580
Raine Syndrome	Short nose, Large fontanelles, Subperiosteal bone formation, Increased bone mineral density, High...	OMIM:259775
Osteogenesis Imperfecta, Type I	Osteopenia, Femoral bowing, Dentinogenesis imperfecta, Hip dysplasia, Wormian bones, Joint hyperm...	OMIM:166200
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Nager Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Phocomelia, Hypop...	ORPHA:245
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad eyebrow, Anteverted nares, Increased laxity of ankles, Hypoplasia of the maxilla, Broad thu...	ORPHA:481152
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Prolonged QT interval, Prominent U wave, Shor...	OMIM:170390
Kenny-Caffey Syndrome, Type 1	Anemia, Calvarial osteosclerosis, Slender long bone, Decreased skull ossification, Short foot, Ca...	OMIM:244460
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Epicanthus, Del...	OMIM:618506
Craniosynostosis And Dental Anomalies	Chronic otitis media, Clinodactyly, Metopic synostosis, Short phalanx of finger, Papilledema, Dow...	OMIM:614188
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Lymphadenopathy	OMIM:605258
Neonatal Alloimmune Neutropenia	Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Pneumon...	ORPHA:464370
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Optic atrophy, Synophrys, Hypoplasia of the maxilla, Thick eyebrow, Bulbous nose, Upslanted palpe...	OMIM:618737
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Short nose, Recurrent otitis media, Abnormal B cell morphology, Decreased circulatin...	OMIM:616910
Hemochromatosis, Type 3	Anemia, Arthritis, Cardiomyopathy, Lymphopenia, Neutropenia	OMIM:604250
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Joint stiffness, Osteoarthri...	ORPHA:1345
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Recurrent sinusitis, Joint hypermobility, Craniosynostosis, Overlapping to...	OMIM:213980
Femoral-Facial Syndrome	Abnormal fibula morphology, Short nose, Abnormal pelvic girdle bone morphology, Coxa vara, Microg...	ORPHA:1988
Nabais Sa-De Vries Syndrome, Type 1	Short nose, Clinodactyly of the 5th finger, Telecanthus, Highly arched eyebrow, Optic nerve hypop...	OMIM:618828
16P11.2P12.2 Microdeletion Syndrome	Chronic otitis media, Long nose, Short nose, Proximal placement of thumb, Anteverted nares, Tricu...	ORPHA:261211
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Large fontanelles, Osteolytic defects of the distal phalanges of the hand, Micrognath...	ORPHA:90154
Orofaciodigital Syndrome Xvii	Polydactyly, Retrognathia, Clubbing of fingers, Central Y-shaped metacarpal, Prominent metopic ri...	OMIM:617926
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Hyperparathyroidism, Transient Neonatal	Osteopenia, Subperiosteal bone formation, Splenic cyst, Anteverted nares, Recurrent fractures, Fr...	OMIM:618188
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Splenomegaly	ORPHA:664
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc...	OMIM:620367
Familial Thyroid Dyshormonogenesis	Bradycardia, Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, La...	ORPHA:95716
Congenital Syphilis	Periostitis, Tibial bowing, Optic atrophy, Myocarditis, Chorioretinitis, Notched primary central ...	ORPHA:499009
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ...	OMIM:608184
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
Geleophysic Dysplasia 1	Short long bone, Wrist flexion contracture, Aortic valve stenosis, Joint stiffness, Cone-shaped e...	OMIM:231050
Cinca Syndrome	Reduced bone mineral density, Anemia, Joint dislocation, Inflammatory abnormality of the eye, Leu...	ORPHA:1451
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo...	ORPHA:1067
Craniodigital-Intellectual Disability Syndrome	Short nose, Spina bifida occulta, Narrow nasal bridge, Finger syndactyly, Long eyelashes, Microgn...	ORPHA:1514
Ohdo Syndrome	Short nose, Clinodactyly of the 5th finger, Blepharophimosis, Anteverted nares, Hypoplasia of tee...	OMIM:249620
Scedosporiosis	Unusual skin infection, Opportunistic fungal infection, Invasive fungal infection, Sinusitis, Per...	ORPHA:449280
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Hemochromatosis, Type 2A	Congestive heart failure, Arthritis, Cardiomyopathy, Splenomegaly, Arrhythmia, Dilated cardiomyop...	OMIM:602390
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Pathologic fracture, Osteolysis, Rickets, Abnormality of the sphenoid ...	ORPHA:249
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Narrow nasal ridge, Delayed cranial suture closure, Elbow flexion contracture, Osteol...	OMIM:248370
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Tibial bowing, Broad thumb, Prominent calcaneus, Downslanted palpeb...	ORPHA:251028
Multiple Osteochondromas	Abnormal femur morphology, Limitation of knee mobility, Deformed forearm bones, Abnormal lower li...	ORPHA:321
Mulibrey Nanism	Astigmatism, Hepatomegaly, Corneal dystrophy, Pericardial constriction, Myocardial fibrosis, Thic...	OMIM:253250
Ehlers-Danlos Syndrome, Hypermobility Type	Joint hypermobility, Osteoarthritis, Joint dislocation	OMIM:130020
Distal Limb Deficiencies-Micrognathia Syndrome	Abnormality of the wrist, Tarsal synostosis, Abnormal metacarpal morphology, Aplasia/Hypoplasia o...	ORPHA:1307
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Skin rash, Leukocytosis, Conjunctivitis, Uveitis	OMIM:120100
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Optic atrophy, Abnormal metacarpal morphology, Inflammatory abnormality of the eye, Choanal atres...	ORPHA:93262
Fatty Acyl-Coa Reductase 1 Deficiency	Highly arched eyebrow, Short nose, Ptosis, Depressed nasal bridge	ORPHA:438178
Cinca Syndrome	Anemia, Arthritis, Skin rash, Leukocytosis, Patellar overgrowth, Papilledema, Hepatosplenomegaly,...	OMIM:607115
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Intermediate Osteopetrosis	Anemia, Optic atrophy from cranial nerve compression, Abnormality of bone mineral density, Recurr...	ORPHA:210110
Clark-Baraitser Syndrome	Short nose, Sandal gap, Low hanging columella, Anteverted nares, Epicanthus, Narrow palpebral fis...	OMIM:617752
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose, Mandibular prognathia, Thick eyebrow, Synophrys	ORPHA:2429
Chromosome 6Q11-Q14 Deletion Syndrome	Short nose, Micrognathia, Prominent nasal bridge, Broad nasal tip, Epicanthus, Joint hypermobilit...	OMIM:613544
Lujan-Fryns Syndrome	Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Arachnodactyly, Prominent nasal...	ORPHA:776
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Idiopathic/Heritable Pulmonary Arterial Hypertension	Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h...	ORPHA:422
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Stickler Syndrome	Chronic otitis media, Reduced bone mineral density, Lattice retinal degeneration, Arachnodactyly,...	ORPHA:828
Takayasu Arteritis	Anemia, Inflammatory abnormality of the eye, Arthritis, Vasculitis, Hypertension, Cerebral ischem...	ORPHA:3287
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Short middle phalanx of finger, Fused cervical vertebrae, Wide nasal bridge, Prominent metopic ridge	OMIM:309620
Stüve-Wiedemann Syndrome	Osteopenia, Abnormal metaphysis morphology, Genu valgum, Abnormal cortical bone morphology, Trism...	ORPHA:3206
Tetrasomy 5P	Short nose, Congestive heart failure, Clinodactyly of the 5th finger, Short hallux, Wide anterior...	ORPHA:3309
Dend Syndrome	Short nose, Bilateral ptosis, Anteverted nares, Prominent metopic ridge, Elevated hemoglobin A1c,...	ORPHA:79134
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, F...	OMIM:602111
Osteopetrosis, Autosomal Dominant 1	Mandibular pain, Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pe...	OMIM:607634
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Coproporphyria, Hereditary	Jaundice, Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Splenomegaly, ...	OMIM:121300
Fibrochondrogenesis 2	Short nose, Metaphyseal cupping, Anteverted nares, Hypoplastic pubic bone, Short long bone, Hypop...	OMIM:614524
Meier-Gorlin Syndrome 1	Absent sternal ossification, Joint hypermobility, Coxa valga, Genu varum, Camptodactyly, Flat gle...	OMIM:224690
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Symphalangism af...	ORPHA:2547
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Highly arched eyebrow, Delayed ossification of carpal bones, Mandibular prognathia, T...	OMIM:239300
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Shallow orbits, Abnormal nasopharynx morphology, Short distal phalanx of finger, I...	OMIM:269150
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint dislocation, Arachnodactyly, Slender long bones with narrow diaphyses, Dentinogene...	ORPHA:536467
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Reduced bone mineral density, Gastrointestinal hemorrhage, Abn...	ORPHA:1414
Sponastrime Dysplasia	Short long bone, Aplasia of the nasal bone, Metaphyseal irregularity, Joint hypermobility, Flatte...	ORPHA:93357
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Optic atrophy from cranial nerve compressio...	OMIM:239100
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Allergic rhinitis, Squamous c...	OMIM:243700
Hajdu-Cheney Syndrome	Dislocated radial head, Crowded carpal bones, Pathologic fracture, Joint hypermobility, Foot acro...	OMIM:102500
Progressive Familial Intrahepatic Cholestasis	Reduced bone mineral density, Jaundice, Hepatomegaly, Cholestasis, Splenomegaly	ORPHA:172
Familial Hemophagocytic Lymphohistiocytosis	Maculopapular exanthema, Skin rash, Erythroderma, Infectious encephalitis, Colitis	ORPHA:540
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epiphyseal stippling, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, Short distal ...	OMIM:277450
Cataract 9, Multiple Types	Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Lupus anticoagulant, Antiphosp...	ORPHA:70591
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Craniosynostosis	ORPHA:88643
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Retrognathia, Short nose, Neutropenia, Joint contracture, Wide nasal bridge, Hip disl...	OMIM:618005
Complement Component 4B Deficiency	Recurrent otitis media, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Menin...	OMIM:614379
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Adducted thumb, Aortic regurgitation, Delayed cranial suture closure, Wormian bones, ...	OMIM:616603
Coffin-Lowry Syndrome	Short metacarpal, Short distal phalanx of finger, Joint hypermobility, Optic atrophy, Advanced er...	ORPHA:192
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Immunodeficiency 59 And Hypoglycemia	Recurrent aphthous stomatitis, Arteritis, Recurrent lower respiratory tract infections, Herpes si...	OMIM:233600
Arterial Tortuosity Syndrome	Rocker bottom foot, Hypertension, Arachnodactyly, Joint hypermobility, Craniosynostosis, Coxa val...	ORPHA:3342
Morgagni-Stewart-Morel Syndrome	Hypertension, Hyperostosis frontalis interna, Osteoporosis, Osteoarthritis, Acne	ORPHA:77296
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Cutis Laxa, Autosomal Recessive, Type Iia	Short nose, Wide anterior fontanel, Anteverted nares, Congenital hip dislocation, Carious teeth, ...	OMIM:219200
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Farber Disease	Short finger, Abnormality of the wrist, Anemia, Arthritis, Macular degeneration, Osteoporosis, Jo...	ORPHA:333
Microphthalmia With Limb Anomalies	Sandal gap, Tibial bowing, Short long bone, Broad thumb, Abnormal eyebrow morphology, Hypoplasia ...	ORPHA:1106
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Short nose, Short palpebral fissure, Highly arched eyebrow, Camptodactyly of finger, Micrognathia...	ORPHA:2083
Smith-Kingsmore Syndrome	Short nose, Short proximal phalanx of finger, Wide anterior fontanel, Downslanted palpebral fissu...	OMIM:616638
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor...	ORPHA:100026
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Recurrent otitis media, Anti-thyroid peroxidase antibody positivity, Sin...	ORPHA:277
Pontocerebellar Hypoplasia, Type 2E	Optic atrophy, Short nose, Wide nose, Osteoporosis, Micrognathia, Facial telangiectasia, Flexion ...	OMIM:615851
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Anal fissure, Crohn's disease, Acute pa...	OMIM:618935
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyper...	OMIM:612714
Brucellosis	Myocarditis, Abnormal aortic valve morphology, Hip osteoarthritis, Arteritis, Knee osteoarthritis...	ORPHA:1304
Omodysplasia 1	Limited knee extension, Short humerus, Axillary pterygium, Fibular hypoplasia, Increased fibular ...	OMIM:258315
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Arthritis, Skin rash, Leukocytosis, Splenomegaly, Erythema nodosum	OMIM:611762
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Micrognathia, Anemia, Distichiasis	ORPHA:2598
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Vasculitis, Skin rash, Arthritis, Episcleritis, Pustule, Orchitis, I...	ORPHA:761
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Fetal Hydantoin Syndrome	Short nose, Abnormality of the fontanelles or cranial sutures, Triphalangeal thumb, Depressed nas...	ORPHA:1912
Pallister-Hall-Like Syndrome	Short nose, Postaxial hand polydactyly, Micrognathia, Postaxial foot polydactyly, Toe syndactyly,...	OMIM:241800
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, 2-3 toe syndactyly, Tapered finger, Hypoplasia of the maxilla, Ptosis, Long fingers, ...	OMIM:218000
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Cerebrooculonasal Syndrome	Short nose, Proboscis, Anteverted nares, Optic nerve hypoplasia, Postaxial hand polydactyly, Spar...	OMIM:605627
Edinburgh Malformation Syndrome	Short nose, Anteverted nares, Choanal atresia, Synophrys, Joint stiffness, Slender finger, Microg...	ORPHA:1895
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Severely reduced left ventricular ejection fraction, Aortic regurgitation...	OMIM:252600
Ogden Syndrome	Aplasia/Hypoplasia of the eyebrow, Delayed cranial suture closure, Downslanted palpebral fissures...	ORPHA:276432
Spondyloepimetaphyseal Dysplasia, Shohat Type	Fibular overgrowth, Generalized bone demineralization, Delayed epiphyseal ossification, Flared me...	ORPHA:93352
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho...	ORPHA:2978
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short nose, Anteverted nares, Depressed nasal ridge	ORPHA:1355
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Clinodactyly of the 5th finger, Telecanthus, Highly arched eyebrow, Anteverted nares, Absent eyel...	ORPHA:228396
Gapo Syndrome	Optic atrophy, Short nose, Wide anterior fontanel, Delayed cranial suture closure, Eruption failu...	OMIM:230740
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short nose, Anteverted nares, Delayed cranial suture closure, Depressed nasal bridge, Malar flatt...	OMIM:613038
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calcaneus, Decreased s...	OMIM:300863
Rhiny	Short nose, Anteverted nares	OMIM:180360
Enthesitis-Related Juvenile Idiopathic Arthritis	Abnormality of the wrist, Abnormal shoulder morphology, Hip osteoarthritis, Aortic regurgitation,...	ORPHA:85438
Greenberg Dysplasia	Retrognathia, Short long bone, Decreased skull ossification, Short metacarpal, Multiple prenatal ...	OMIM:215140
Meier-Gorlin Syndrome 5	Slender long bone, Prominent metopic ridge, Hypoplasia of the maxilla, Micrognathia, Hypoplasia o...	OMIM:613805
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Highly arched eyebrow, Optic nerve hypoplasia, Hypertension,...	OMIM:602535
Wiskott-Aldrich Syndrome	Hematemesis, Chronic otitis media, Abnormal platelet function, Sinusitis, Epistaxis, Hematochezia...	ORPHA:906
Achondrogenesis Type 2	Abnormal bone ossification, Abnormal vitreous humor morphology, Delayed pubic bone ossification, ...	ORPHA:93296
Bullous Impetigo	Septic arthritis, Pustule, Recurrent bacterial skin infections	ORPHA:36237
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis	ORPHA:391
Baker-Gordon Syndrome	Joint hypermobility, Short nose, Prominent nasal tip, Epicanthus	OMIM:618218
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,...	OMIM:620135
Neuraminidase Deficiency	Hepatomegaly, Cardiomegaly, Epiphyseal stippling, Cardiomyopathy, Urinary excretion of sialylated...	OMIM:256550
Perlman Syndrome	Retrognathia, Short nose, Anteverted nares, Ptosis, Micrognathia, Epicanthus, Wide nasal bridge	ORPHA:2849
Hunter-Macdonald Syndrome	Short palpebral fissure, Large fontanelles, Cubitus valgus, Aortic regurgitation, Clinodactyly of...	OMIM:611962
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Arthritis, Crohn's disease, Decreased circulating antibody level, Ec...	OMIM:616100
Apert Syndrome	Optic atrophy, Large fontanelles, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Fin...	ORPHA:87
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Optic atrophy, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand...	OMIM:210730
Achondroplasia	Limited elbow extension, Narrow greater sciatic notch, Short proximal phalanx of finger, Abnormal...	ORPHA:15
Burn-Mckeown Syndrome	Short nose, Short palpebral fissure, Bilateral choanal atresia, Prominent nasal bridge, Wide nasa...	ORPHA:1200
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Recurren...	OMIM:130000
Rothmund-Thomson Syndrome, Type 2	Supernumerary tooth, Short nose, Delayed eruption of teeth, Mandibular prognathia, Absent eyelash...	OMIM:268400
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Short nose, Anteverted nares, Subretinal pigment epithelium hemorrhage, Congenital hip dislocatio...	ORPHA:357074
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a...	OMIM:614022
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Ventricular septal defect, Cystic rena...	OMIM:613730
Lathosterolosis	Anisopoikilocytosis, Short nose, Anteverted nares, Postaxial hand polydactyly, Prominent metopic ...	ORPHA:46059
Systemic Lupus Erythematosus	Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolytic anemia, L...	OMIM:152700
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Desbuquois Dysplasia 2	Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Joint hypermobility, Coxa v...	OMIM:615777
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Keratoconjunctivitis sicca, Gastritis, Myositis, Arthri...	ORPHA:809
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ...	OMIM:211600
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Anteverted nares, Mandibular prognathia, Hyperextensibility of the finger joints, Osteoporosis, S...	OMIM:309583
Ayme-Gripp Syndrome	Short nose, Broad eyebrow, Delayed cranial suture closure, Mandibular prognathia, Tapered finger,...	OMIM:601088
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pyloric stenosis, Bone marrow hypocellularity, ...	ORPHA:381
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Dysphagia	ORPHA:50251
Six2-Related Frontonasal Dysplasia	Absent/hypoplastic paranasal sinuses, Wide anterior fontanel, Ptosis, Broad nasal tip, Epicanthus...	ORPHA:488437
Weill-Marchesani Syndrome 2	Congestive heart failure, Short finger, Flexion contracture of toe, Short metatarsal, Broad phala...	OMIM:608328
Harel-Yoon Syndrome	Optic atrophy, Short nose, Mandibular prognathia, Hypertrophic cardiomyopathy, Micrognathia, Hip ...	OMIM:617183
Acromicric Dysplasia	Anteverted nares, Short long bone, Short metacarpal, Short foot, Long eyelashes, Short palm, Shor...	OMIM:102370
Complement Factor I Deficiency	Recurrent otitis media, Recurrent meningococcal disease, Vasculitis, Recurrent urinary tract infe...	OMIM:610984
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly	ORPHA:75234
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, P...	ORPHA:98850
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Recurrent mandibular subluxations, Telecanthus, Wide anterior fontanel, Short phalanx...	OMIM:225410
16P12.1P12.3 Triplication Syndrome	Retrognathia, Short nose, Short palpebral fissure, 2-3 toe syndactyly, Prominent fingertip pads, ...	ORPHA:485405
Hajdu-Cheney Syndrome	Partial absence of toe, Decreased skull ossification, Aortic valve stenosis, Splenomegaly, Joint ...	ORPHA:955
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Long nose, Bicoronal synostosis, Tracheobronchomalacia, Short long bone, Joint stiffness, Enamel ...	OMIM:619184
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Absent extraocular muscles, Telecanthus, Hypoplasia of the maxilla, Malar flattening, Coxa valga,...	OMIM:109120
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Graft Versus Host Disease	Gastrointestinal inflammation, Limited elbow movement, Dupuytren contracture, Pneumonia, Hemophag...	ORPHA:39812
Hennekam-Beemer Syndrome	Optic atrophy, Long nose, Clinodactyly of the 5th finger, Wide nose, Delayed cranial suture closu...	ORPHA:2135
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Reduced bone mineral density, Genu valgum, Small epiphyses, Retinal detac...	ORPHA:94068
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Cataract, I...	ORPHA:1473
Acute Disseminated Encephalomyelitis	Severe Epstein Barr virus infection, Myelitis, Herpes simplex encephalitis, Optic neuritis, Sever...	ORPHA:83597
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Abs...	OMIM:261000
Opsismodysplasia	Short nose, Large fontanelles, Metaphyseal cupping, Anteverted nares, Hypoplastic pubic bone, Sho...	OMIM:258480
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Cone-shaped epiphyses of the phalanges of the hand, Delayed epiphyseal ossification, ...	OMIM:618618
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Panniculitis, Increased circulating antibody level, Myositis, Arthritis, Skin rash, Sinus...	OMIM:617591
Hallermann-Streiff Syndrome	Hypertension, Joint hypermobility, Narrow nose, Telangiectasia, Decreased number of sternal ossif...	OMIM:234100
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Arthritis, Arthropathy, Elevated jugular venous pressure, Cardiomyopath...	ORPHA:465508
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Inflammation of the large intestin...	OMIM:300635
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot, Cataract	ORPHA:1381
Rift Valley Fever	Hematemesis, Melena, Skin rash, Retinal hemorrhage, Severe viral infection, Hepatitis, Infectious...	ORPHA:319251
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnor...	ORPHA:54251
Dent Disease	Rickets, Enlargement of the wrists, Delayed epiphyseal ossification, Enlargement of the ankles, E...	ORPHA:1652
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Long nose, Short nose, Optic atrophy, Telecanthus, Slender long bone, Right bundle br...	OMIM:618590
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Pulmonary hemorrhage, Crescentic glomerulonephritis	OMIM:616414
Musculocontractural Ehlers-Danlos Syndrome	Short nose, Large fontanelles, Recurrent joint dislocation, Retinal detachment, Tapered finger, S...	ORPHA:2953
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short nose, Mandibular prognathia, Camptodactyly, Horizontal eyebrow, Ptosis, Clinodactyly, Synda...	ORPHA:369891
Hypocomplementemic Urticarial Vasculitis	Small vessel vasculitis, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal hear...	ORPHA:36412
Mandibuloacral Dysplasia With Type A Lipodystrophy	Large fontanelles, Absent eyelashes, Osteolytic defects of the distal phalanges of the hand, Limi...	ORPHA:90153
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Tarsal synostosis, Wide anterior fontanel, Delayed cranial suture closure, Abnormal dental enamel...	ORPHA:85199
Papa Syndrome	Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Limitation of joint m...	ORPHA:69126
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Wide anterior fontanel, Shortening of all metacarpals, Shortening of all phalanges...	OMIM:601356
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Short nose, Hypertension, Tapered finger, Prominent nasal bridge, Flexion contracture, Tachycardi...	OMIM:613870
Vertical Talus, Congenital	Rocker bottom foot, Arthritis, Equinus calcaneus, Calcaneovalgus deformity	OMIM:192950
Autosomal Recessive Cutis Laxa Type 2A	Wide anterior fontanel, Delayed cranial suture closure, Congenital hip dislocation, Persistent op...	ORPHA:357058
Intellectual Developmental Disorder, X-Linked 21	Short nose, Mandibular prognathia, Synophrys, Joint hypermobility, Upslanted palpebral fissure	OMIM:300143
Gaucher Disease Type 1	Osteopenia, Pinguecula, Anemia, Pathologic fracture, Increased circulating antibody level, Pancyt...	ORPHA:77259
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Broad thumb, Syndactyly, Joint ...	OMIM:268310
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Short nose, Recurrent otitis media, Telecanthus, Highly arched eyebrow, Narro...	ORPHA:363528
Autosomal Dominant Kenny-Caffey Syndrome	Calvarial osteosclerosis, Anemia, Retinal calcification, Delayed cranial suture closure, Decrease...	ORPHA:93325
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Femoral retroversion, Wide anterior fontanel, Delayed cranial su...	OMIM:610682
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Shallow orbits, Hypoplasia of t...	OMIM:277600
9P13 Microdeletion Syndrome	Recurrent otitis media, Clinodactyly of the 5th finger, Highly arched eyebrow, Anteverted nares, ...	ORPHA:324313
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Short nose, Bilateral ptosis, Clinodactyly of the 5th finger, Highly arched eyebrow, Anteverted n...	OMIM:614701
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Dental malocclusion, Delayed eruption of teeth, Pancytopenia, Arthri...	ORPHA:1855
Trisomy 20P	Short nose, Reduced bone mineral density, Abnormal hip bone morphology, Highly arched eyebrow, An...	ORPHA:261318
Mandibuloacral Dysplasia	Short clavicles, Delayed cranial suture closure, Osteolytic defects of the distal phalanges of th...	ORPHA:2457
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Retinal dysplasia, Joi...	ORPHA:1190
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Short long ...	OMIM:156400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Anteverted nares, Decreased circulating IgA level, T lymphocytopenia, Sinusitis, Bron...	OMIM:242860
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Short long bone, Limitation of joint mobility, Bowing of the long b...	OMIM:224400
Craniolenticulosutural Dysplasia	Osteopenia, Optic atrophy, Delayed eruption of teeth, Wide anterior fontanel, Anteverted nares, N...	OMIM:607812
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Esophageal varix, Ascites, Portal hypertension, Thrombocy...	OMIM:619463
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic c...	OMIM:618052
Aymé-Gripp Syndrome	Rocker bottom foot, Short nose, Large fontanelles, Bilateral ptosis, Clinodactyly of the 5th fing...	ORPHA:1272
Immunodeficiency 66	Recurrent skin infections, Pustule, Meningitis	OMIM:618847
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac ...	ORPHA:96334
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Pneumonia, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Tran...	ORPHA:99104
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Postnatal growth retardation, Recurrent respiratory infections, Atrial f...	ORPHA:75249
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Wide nose, Telecanthus, Abnormal eyelash morphology, Depressed na...	ORPHA:2399
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cubitus valgus, Mandibular prognathia, Hypoplasia of the maxilla, Micrognathia, Prominent nasal b...	OMIM:300534
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Short nose, Clinodactyly of the 5th finger, Sandal gap, 2-3 toe syndactyly, Tapered...	OMIM:617061
Brain Malformations With Or Without Urinary Tract Defects	Metopic synostosis, Short nose, Anteverted nares, Upslanted palpebral fissure	OMIM:613735
Prolidase Deficiency	Short nose, Diffuse telangiectasia, Anemia, Increased circulating antibody level, Eczematoid derm...	OMIM:170100
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Ptosis, Micrognathia, Downslanted palpebral f...	ORPHA:2789
Parietal Foramina 1	Wormian bones	OMIM:168500
Desmosterolosis	Short nose, Anteverted nares, Micrognathia, Downslanted palpebral fissures, Epicanthus, Hypoplast...	OMIM:602398
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal lymph node morphology...	ORPHA:85450
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Alg9-Cdg	Narrow greater sciatic notch, Short nose, Abnormal bone ossification, Telecanthus, Flared metaphy...	ORPHA:79328
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy	ORPHA:85447
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardiomegaly	ORPHA:858
Microscopic Polyangiitis	Congestive heart failure, Gastrointestinal hemorrhage, Pancreatitis, Arthritis, Vasculitis, Skin ...	ORPHA:727
Lenz-Majewski Hyperostotic Dwarfism	Syndactyly, Joint hypermobility, Elbow flexion contracture, Choanal atresia, Lacrimal duct stenos...	OMIM:151050
3C Syndrome	Optic atrophy, Short nose, Abnormality of the fontanelles or cranial sutures, Abnormal hip bone m...	ORPHA:7
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Dysphagia	ORPHA:77260
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
Kid Syndrome	Corneal neovascularization, Delayed pubic bone ossification, Aplastic/hypoplastic lacrimal glands...	ORPHA:477
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Eczematoid dermati...	OMIM:619510
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Deviation of the 5th toe, Short nose, Wide nose, Anteverted nares, Synophrys, Slender finger, Hyp...	ORPHA:391408
Dubowitz Syndrome	Sandal gap, Broad thumb, Abnormality of thumb phalanx, Joint hypermobility, Craniosynostosis, Apl...	ORPHA:235
Familial Cold Urticaria	Arthritis, Conjunctivitis	ORPHA:47045
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Arthritis, Avascular necrosis of the capital femoral epiphysis, Malar flattening, Cervical sublux...	OMIM:184100
Andersen-Tawil Syndrome	Clinodactyly of the 5th toe, Prolonged QT interval, Polymorphic ventricular tachycardia, Prominen...	ORPHA:37553
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Abnormality of t...	ORPHA:93316
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Optic atrophy, Short nose, Slender nose, Micrognathia, Joint contracture	OMIM:615419
Coats Disease	Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract	ORPHA:190
Tetrasomy 12P	Short nose, Telecanthus, Delayed eruption of teeth, Anteverted nares, Ptosis, Sparse eyebrow, Joi...	ORPHA:884
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis	ORPHA:66630
Khan-Khan-Katsanis Syndrome	Short nose, Trichiasis, Anemia, Highly arched eyebrow, Tricuspid regurgitation, Epiblepharon, Pos...	OMIM:618460
Facial Paresis, Hereditary Congenital, 3	Short nose, Anteverted nares, Micrognathia, Unilateral ptosis, Epicanthus, Lagophthalmos, Depress...	OMIM:614744
Donnai-Barrow Syndrome	Short nose, Retinal dystrophy, Retinal detachment, Wide anterior fontanel, Short sternum, Downsla...	OMIM:222448
Hemophagocytic Lymphohistiocytosis, Familial, 2	Skin rash, Meningitis, Infectious encephalitis	OMIM:603553
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles	OMIM:264270
Bartsocas-Papas Syndrome 1	Ectropion, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Ablepharon, Absent thumb, Synd...	OMIM:263650
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Aarskog-Scott Syndrome	Short nose, Radial deviation of finger, Anteverted nares, Hyperextensibility of the finger joints...	OMIM:305400
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose, Telecanthus, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Epicanthus, P...	ORPHA:79113
Eosinophilic Fasciitis	Myositis, Arthritis, Abnormal eosinophil morphology, Eosinophilia, Fasciitis	ORPHA:3165
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Cataract, Retinal degeneration	OMIM:266500
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Cardiomegaly	OMIM:269920
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Spondylosis, Cervical	Osteoarthritis, Spina bifida occulta	OMIM:184300
Cardiofaciocutaneous Syndrome 1	Pulmonic stenosis, Splenomegaly, Palpebral thickening, Optic nerve dysplasia, Anteverted nares, A...	OMIM:115150
Aspartylglucosaminuria	Chronic otitis media, Short nose, Abnormal cortical bone morphology, Arthritis, Mandibular progna...	ORPHA:93
Hemophagocytic Lymphohistiocytosis, Familial, 1	Meningitis, Infectious encephalitis	OMIM:267700
Silver-Russell Syndrome 1	Clinodactyly of the 5th finger, Delayed cranial suture closure, Short middle phalanx of the 5th f...	OMIM:180860
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Pneumocystis carinii pneumonia, Recurrent lower respiratory tract infec...	OMIM:308230
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Microcephaly-Capillary Malformation Syndrome	Optic atrophy, Short nose, Wide nose, Hypoplasia of the maxilla, Ptosis, Brachydactyly, Short dis...	OMIM:614261
Robinow Syndrome, Autosomal Dominant 2	Partial duplication of the phalanx of hand, Short nose, Calvarial osteosclerosis, Anteverted nare...	OMIM:616331
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Overhanging nasal tip, Genu valgum, Postaxial polydactyly	OMIM:619142
Laron Syndrome	Short long bone, Abnormal joint morphology	OMIM:262500
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Hemochromatosis, Type 4	Anemia, Cardiomyopathy, Osteoarthritis, Arrhythmia	OMIM:606069
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Polyarticular arthritis, Myositis, Skin rash, Conjunctival hyperemia...	OMIM:142680
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools	OMIM:619868
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Tularemia	Pneumonia, Inflammatory abnormality of the eye, Erythema nodosum, Skin rash, Otitis media, Conjun...	ORPHA:3392
Baller-Gerold Syndrome	Short nose, Large fontanelles, Abnormal carpal morphology, Abnormal metacarpal morphology, Narrow...	ORPHA:1225
Miller-Dieker Syndrome	Short nose, Anteverted nares, Clinodactyly of the 5th finger, Epicanthus	ORPHA:531
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Meier-Gorlin Syndrome 3	Patellar hypoplasia, Absent sternal ossification, Tracheomalacia, Aplasia/Hypoplasia of the patel...	OMIM:613803
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Systemic-Onset Juvenile Idiopathic Arthritis	Arthritis, Skin rash, Pericarditis, Splenomegaly, Anterior uveitis, Joint swelling, Juvenile rheu...	ORPHA:85414
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Hepatic fibrosis	OMIM:613313
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Arthritis, Decreased FOXP3-expressing T cell count, Increased circulating IgE level, Ecze...	OMIM:304790
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steat...	OMIM:607765
Smith-Magenis Syndrome	Chronic otitis media, Short nose, Clinodactyly of the 5th finger, Retinal detachment, Anteverted ...	ORPHA:819
Even-Plus Syndrome	Short nose, Highly arched eyebrow, Bifid nasal tip, Depressed nasal ridge, Synophrys, Atopic derm...	OMIM:616854
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Verrucae, Hashimoto thyroidit...	ORPHA:275
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Lateral Meningocele Syndrome	Telecanthus, Ptosis, Micrognathia, Downslanted palpebral fissures, Short nasal bridge, Malar flat...	OMIM:130720
Trisomy 10P	Abnormality of the nose, Retrognathia, Short nose, Short palpebral fissure, Anteverted nares, Thu...	ORPHA:171929
Alexander Disease	Hypotension, Hypertension, Sudden cardiac death, Infectious encephalitis	ORPHA:58
Occipital Horn Syndrome	Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Aplastic ...	ORPHA:198
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Congestive heart failure, Myositis, Arthritis, Vasculitis, Hypertension, Transient i...	ORPHA:183
Mucolipidosis Ii Alpha/Beta	Palpebral edema, Short long bone, Flat acetabular roof, Flared iliac wing, Splenomegaly, Bullet-s...	OMIM:252500
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Chromosome 19Q13.11 Deletion Syndrome, Distal	Retrognathia, Short nose, Short palpebral fissure, Clinodactyly of the 5th finger, Blepharophimos...	OMIM:613026
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Short long bone, Broad thumb, C...	OMIM:180700
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal irregularity, Short iliac bones, Pneumonia, Recurrent otitis media, Metaphyseal scler...	OMIM:607944
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Short nose, Telecanthus, Almond-shaped palpebral fissure, Downslanted palpebral fissures, Epicant...	OMIM:620292
Frontofacionasal Dysplasia	Short nose, Upper eyelid coloboma, Telecanthus, Absent inner eyelashes, Dimple on nasal tip, Bifi...	ORPHA:1791
Kagami-Ogata Syndrome	Retrognathia, Short palpebral fissure, Anteverted nares, Pulmonary arterial hypertension, Hypopla...	OMIM:608149
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Congenital Disorder Of Glycosylation, Type Iu	Optic atrophy, Short nose, Micrognathia, Congenital contracture	OMIM:615042
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Baraitser-Winter Syndrome 1	Retrognathia, Short nose, Highly arched eyebrow, Anteverted nares, Aortic valve stenosis, Ptosis,...	OMIM:243310
Chikungunya	Arthritis, Skin rash, Synovitis, Epistaxis, Raynaud phenomenon, Enthesitis, Infectious encephalit...	ORPHA:324625
Schwartz-Jampel Syndrome	Flexion contracture of toe, Wrist flexion contracture, Abnormally ossified vertebrae, Joint stiff...	ORPHA:800
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegaly	ORPHA:75233
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis	OMIM:125440
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor	OMIM:619170
Adult-Onset Still Disease	Myocarditis, Anemia, Arthritis, Skin rash, Interstitial pneumonitis, Leukocytosis, Pericarditis, ...	ORPHA:829
Ctcf-Related Neurodevelopmental Disorder	Sandal gap, Joint contracture of the 5th finger, Highly arched eyebrow, Prominent fingertip pads,...	ORPHA:363611
Noonan Syndrome 3	Short nose, Juvenile myelomonocytic leukemia, Anteverted nares, Hypertrophic cardiomyopathy, Pulm...	OMIM:609942
Kenny-Caffey Syndrome, Type 2	Anemia, Abnormality of the medullary cavity of the long bones, Increased bone mineral density, Re...	OMIM:127000
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Giant platelets, Anemia, Anteverted nares, Short long bone, Short foot, Camptodactyly...	OMIM:611209
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract	OMIM:614292
Psoriasis-Related Juvenile Idiopathic Arthritis	Toe dactylitis, Abnormality of the wrist, Abnormality of the temporomandibular joint, Iritis, Abn...	ORPHA:85436
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Skin rash, Lymphoma, Systemic lupus erythematosus, Tachycardia, Auto...	ORPHA:90036
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Craniosynostosis, Overlapping toe, Clinodactyly, Optic atrophy, Camptodactyly, Downslanted palpeb...	OMIM:309590
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Myocardial necrosis, Sinusitis, Pustule, Arrhythmia, Pneumonia, Infectiou...	ORPHA:68
Branchioskeletogenital Syndrome	Telecanthus, Highly arched eyebrow, Mandibular prognathia, Abnormal dentin morphology, Upper limb...	ORPHA:1299
Systemic Lupus Erythematosus, Susceptibility To, 6	Malar rash, Arthritis, Pericarditis	OMIM:609939
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Osteogenesis Imperfecta, Type Xx	Retrognathia, Highly arched eyebrow, Mandibular prognathia, Multiple prenatal fractures, Sparse l...	OMIM:618644
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Microspherophakia, Optic nerve hypoplasia, Secundum atrial septal defect, Cataract,...	OMIM:620609
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Retrognathia, Wide nasal base, Telecanthus, Spina bifida occulta, Depressed nasal tip...	ORPHA:488434
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Budd-Chiari Syndrome	Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Gastroint...	ORPHA:131
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Arthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joint hy...	ORPHA:85410
Atelosteogenesis, Type I	Clubbing, Tibial bowing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Multinuc...	OMIM:108720
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Reduced bone mineral density, Hepatomegaly, Cleft palate, Leukopenia, Splenomegaly, Lymphopenia	OMIM:620210
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Curry-Jones Syndrome	Unicoronal synostosis, Bicoronal synostosis, Triphalangeal hallux, Broad thumb, Duplication of th...	OMIM:601707
5Q14.3 Microdeletion Syndrome	Short nose, Anteverted nares, Optic nerve hypoplasia, Thick eyebrow, Toe syndactyly, Upslanted pa...	ORPHA:228384
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Short nose, Optic atrophy, Micrognathia, Dental malocclusion, Contractures of the lar...	ORPHA:329178
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Anemia, Subdural hemorrhage, Limitation of join...	ORPHA:169802
Vexas Syndrome	Nasal chondritis, Arteritis, Macrocytic anemia, Arthritis, Thrombocytopenia, Inflammatory abnorma...	OMIM:301054
Acromesomelic Dysplasia 1	Limited elbow extension, Short nose, Hypoplasia of the radius, Broad finger, Short metatarsal, Co...	OMIM:602875
Sweeney-Cox Syndrome	Upper eyelid coloboma, Low hanging columella, Wide anterior fontanel, Short clavicles, 2-5 toe sy...	OMIM:617746
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Narrow nasal bridge, Hyperextensibility of the finger joints, Hypoplasia of the maxill...	OMIM:309520
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Acrocephalopolydactylous Dysplasia	Short nose, Postaxial hand polydactyly, Epicanthus, Craniosynostosis, Upslanted palpebral fissure...	OMIM:200995
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Split hand, Camptodactyly, Microretrognathia	OMIM:246560
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Oligosacchariduria, Cardiomegaly	ORPHA:3137
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Short nose, Optic nerve hypoplasia, Mandibular prognathia, Hypertrophic cardiomyop...	ORPHA:496790
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis	OMIM:616833
D-Bifunctional Protein Deficiency	Osteopenia, Retrognathia, Large fontanelles, Hammertoe, Delayed cranial suture closure, Split han...	OMIM:261515
Chromosome 14Q11-Q22 Deletion Syndrome	Optic atrophy, Short nose, Hip subluxation, Short palpebral fissure, Blepharophimosis, Prominent ...	OMIM:613457
Castleman Disease	Intestinal obstruction, Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Abnormali...	ORPHA:160
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Leukodystrophy, Hypomyelinating, 10	Short nose, Anteverted nares, Arachnodactyly, Downslanted palpebral fissures, Malar flattening, P...	OMIM:616420
Cutis Laxa, Autosomal Recessive, Type Iiia	Large fontanelles, Adducted thumb, Narrow nasal ridge, Congenital hip dislocation, Wide cranial s...	OMIM:219150
Spondylocarpotarsal Synostosis Syndrome	Limited elbow extension, Short nose, Tarsal synostosis, Clinodactyly of the 5th finger, Bowed hum...	OMIM:272460
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Diaphyseal dysplasia, Optic nerve compression, Anteverted nares, Optic neuropathy,...	OMIM:619727
Agammaglobulinemia 2, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Meningitis, Recurr...	OMIM:613500
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Fetal Valproate Spectrum Disorder	Short nose, Epicanthus, Depressed nasal ridge	ORPHA:1906
Fetal Trimethadione Syndrome	Short nose, Synophrys, Ptosis, Micrognathia, Epicanthus, Depressed nasal bridge	ORPHA:1913
Non-Distal Duplication 13Q	Short nose, Abnormal eyelash morphology, Postaxial hand polydactyly, Synophrys, Arachnodactyly, M...	ORPHA:1702
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Highly arched eyebrow, Hypo...	OMIM:180849
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Osteoporo...	OMIM:257200
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Anteverted nares, Short distal phalanx of toe, Bilateral triphalangeal thumbs, Microg...	OMIM:619356
Beta-Thalassemia	Hepatomegaly, Anemia, Reduced bone mineral density, Cholelithiasis, Thrombocytopenia, Splenomegal...	ORPHA:848
Absent Eyebrows And Eyelashes With Mental Retardation	Convex nasal ridge, Short nose, Absent eyelashes, Absent eyebrow	OMIM:200130
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Proximal placement of thumb, Highly arched eyebrow, Pulmonic stenosis, Sh...	OMIM:610759
Robinow Syndrome, Autosomal Recessive 2	Short nose, Sandal gap, Anteverted nares, Prominent fingertip pads, Camptodactyly, Long eyelashes...	OMIM:618529
Acquired Hypertrichosis Lanuginosa	Glossitis, Macroglossia, Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Yao Syndrome	Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Keratoconjunctivitis si...	OMIM:617321
Moderate Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Intraventricular hemorrhage, Arthropathy, Limit...	ORPHA:169805
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Sparse eyelashes, Micrognathia, Trismus, Lower eyelid coloboma, Wide n...	OMIM:616367
Antisynthetase Syndrome	Myocarditis, Aortic regurgitation, Joint dislocation, Myositis, Arthritis, Skin rash, Pulmonary a...	ORPHA:81
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Abnormal fundus fluorescein angiography, Congenital hip di...	ORPHA:2962
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Long nose, Short nose, Short palpebral fissure, Delayed eruption of teeth, Low hanging columella,...	OMIM:615866
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Bifid nasal tip, Impacted tooth, Agenesis of incisor, Anteverted...	OMIM:211380
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:250220
Lathosterolosis	Anisopoikilocytosis, Short nose, 2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Ante...	OMIM:607330
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Crohn's disease, Hypertrophic cardiomyopathy, Tricuspid regurgita...	OMIM:619705
Rheumatic Fever	Myocarditis, Recurrent pharyngitis, Arthritis, Sinusitis, Pericarditis, Epistaxis, Arrhythmia, En...	ORPHA:3099
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Intestinal pseudo-obstruction, Peritoneal abscess, Colon cancer, Hepat...	ORPHA:1333
Warburg Micro Syndrome 3	Optic atrophy, Short nose, Clinodactyly of the 5th finger, Micrognathia, Flexion contracture, Ank...	OMIM:614222
Melanocytic Nevus Syndrome, Congenital	Short nose, Narrow nasal ridge, Anteverted nares, Broad nasal tip, Prominence of the premaxilla	OMIM:137550
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Clinodactyly of the 5th finger, Anteverted nares, 2-3 toe syndactyly, Upslanted palpe...	OMIM:613443
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Short nose, Mandibular prognathia, Downslanted palpebra...	OMIM:614753
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Genu valgum, Osteolytic defects of the phalanges of the hand, Sandal gap, Narrow nasa...	OMIM:619127
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Tracheoesophageal fistula, Nodular goiter, Dysphagia, Goiter	ORPHA:142
Fusariosis	Lung abscess, Panniculitis, Maculopapular exanthema, Abnormal retinal morphology, Arthritis, Myos...	ORPHA:228119
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Mandibular prognathia, Upslanted palpebral fissure	ORPHA:93950
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Short stature, Recurrent urinary tract infections, Infectious encephalitis	ORPHA:847
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l...	ORPHA:2256
Complement Factor B Deficiency	Recurrent meningococcal disease, Peritonitis, Pneumonia, Meningitis, Recurrent bacterial infections	OMIM:615561
22Q11.2 Deletion Syndrome	Chronic otitis media, Gastrointestinal hemorrhage, Corneal neovascularization, Seborrheic dermati...	ORPHA:567
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Coffin-Lowry Syndrome	Highly arched eyebrow, Short metacarpal, Thick nasal septum, Delayed closure of the anterior font...	OMIM:303600
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Chronic oral candidiasis, Recurrent candida infections, Recurrent Staphyloc...	ORPHA:83471
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Anemia, Accessory spleen, Delayed cranial suture closure, Hip dy...	OMIM:620005
Chromosome 3Q29 Duplication Syndrome	Short nose, Short palpebral fissure, Downslanted palpebral fissures, Bulbous nose, Wide nasal bri...	OMIM:611936
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys...	ORPHA:91495
Peho Syndrome	Optic atrophy, Retrognathia, Short nose, Epicanthus, Tapered finger	OMIM:260565
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Amyloidosis, Finnish Type	Cardiac amyloidosis, Cardiomyopathy, Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndr...	OMIM:105120
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Tracheobronchomalacia, Nasolacrimal ...	OMIM:613458
Polymyositis	Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Vasc...	ORPHA:732
Cronkhite-Canada Syndrome	Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo...	ORPHA:2930
Melnick-Needles Syndrome	Limited elbow extension, Genu valgum, Osteolytic defects of the phalanges of the hand, Recurrent ...	OMIM:309350
Cataract 47	Cataract, Glycosuria, Microcornea	OMIM:612018
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Ascites, Osteoporosis, Testicular...	OMIM:235200
Idiopathic Hypereosinophilic Syndrome	Clubbing, Erythroderma, Splenomegaly, Cholangitis, Supraventricular arrhythmia, Transient ischemi...	ORPHA:3260
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Ear-Patella-Short Stature Syndrome	Retrognathia, Clinodactyly of the 5th finger, Slender long bone, Mandibular aplasia, Abnormal epi...	ORPHA:2554
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Overlap Myositis	Subluxation of the small joints of the hand, Arthritis, Hypertension, Pulmonary arterial hyperten...	ORPHA:206572
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Myelofibrosis, Leukocytosis, Ascites, Thrombocytopenia, Sp...	ORPHA:457077
Faciodigitogenital Syndrome, Autosomal Recessive	Short nose, Clinodactyly of the 5th finger, Anteverted nares, Short foot, Camptodactyly, Long pal...	OMIM:227330
Cebalid Syndrome	Short nose, Highly arched eyebrow, Anteverted nares, Depressed nasal ridge, Downslanted palpebral...	OMIM:618774
Monosomy 9Q22.3	Polydactyly, Short nose, Delayed eruption of teeth, Retinopathy, Downslanted palpebral fissures, ...	ORPHA:77301
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Retrognathia, Short nose, Tapered finger, Long eyelashes, Synophrys, Hypoplasia of teeth, Microgn...	OMIM:620250
Coccidioidomycosis	Skin rash, Cerebral ischemia, Broad metatarsal, Granuloma, Pericarditis, Abnormal retinal morphol...	ORPHA:228123
Lesch-Nyhan Syndrome	Anemia, Gout	ORPHA:510
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism, Reduced bone mineral density, Congenital pyloric atresia	ORPHA:2617
Trisomy 8P	Retrognathia, Short nose, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short 1st ...	ORPHA:264450
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Proximal tibial and fibular fusion, Hypertension, Femoral bowing, Short metac...	ORPHA:95699
Harderoporphyria	Increased fecal harderoporphyrin, Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Spl...	OMIM:618892
Japanese Encephalitis	Meningitis, Infectious encephalitis	ORPHA:79139
Catastrophic Antiphospholipid Syndrome	Myocarditis, Myocardial infarction, Retinal arterial occlusion, Arthritis, Angina pectoris, Trans...	ORPHA:464343
Sifrim-Hitz-Weiss Syndrome	Short palpebral fissure, Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Ptosis,...	OMIM:617159
Desmosterolosis	Abnormality of the nose, Retrognathia, Short nose, Osteopetrosis, Increased bone mineral density,...	ORPHA:35107
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Camptodactyly of finger, Sparse eyelas...	ORPHA:306542
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Recon Progeroid Syndrome	Keratoconjunctivitis sicca, Anemia, Proximal placement of thumb, Narrow nasal ridge, Anteverted n...	OMIM:620370
Intellectual Developmental Disorder, X-Linked 30	Short nose, Anteverted nares, Prominent fingertip pads, Prominent nasal bridge, Upslanted palpebr...	OMIM:300558
Beta-Thalassemia Intermedia	Reduced bone mineral density, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decrea...	ORPHA:231222
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Peters anomaly	OMIM:618652
Retinitis Pigmentosa 84	Cataract, Macular coloboma, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:618220
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Decreased cranial base ossification, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone...	OMIM:151210
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Septic a...	OMIM:612260
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Alkaptonuria	Abnormality of the nose, Increased susceptibility to fractures, Reduced bone mineral density, Pro...	ORPHA:56
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Slender long bone, Wide anterior fontanel, Delayed cranial...	OMIM:278250
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Increased circulating antibody level, Sclerosing cholangitis, Acute ...	ORPHA:2137
Zttk Syndrome	Optic atrophy, Short nose, Aortic regurgitation, Broad eyebrow, Short foot, Hypoplasia of the max...	OMIM:617140
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ...	OMIM:615616
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Recurrent infections, Vasculitis, Skin rash, Perinuclear antineutrophil antibody positivity, Vasc...	OMIM:617718
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Proximal placement of thumb, Telecanthus, Anteverted nares, Choanal atresia, Slender ...	OMIM:610536
2Q31.1 Microdeletion Syndrome	Sandal gap, Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology...	ORPHA:251014
Achondrogenesis, Type Ia	Short nose, Hypoplasia of the radius, Unossified vertebral bodies, Anteverted nares, Abnormal han...	OMIM:200600
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Hypertension, Bone marrow hypocellularity, Recurrent sinusitis, Leukopenia, Splenomega...	OMIM:615688
Campomelic Dysplasia	Fibular hypoplasia, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheobronchomalacia, Fe...	ORPHA:140
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Unicoronal synostosis, Sq...	OMIM:616300
Adenylosuccinase Deficiency	Anteverted nares, Short nose, Prominent metopic ridge	OMIM:103050
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Chronic gastri...	ORPHA:183675
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Arthritis, Vasculitis, Viral hepatitis, Splenomegaly, Keratoconjunct...	ORPHA:91138
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Sclerosteosis 1	Optic atrophy, Sclerotic scapulae, Mandibular prognathia, Abnormal pelvic girdle bone morphology,...	OMIM:269500
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Goldberg-Shprintzen Syndrome	Clinodactyly of the 5th finger, Aortic regurgitation, Telecanthus, Highly arched eyebrow, Tapered...	OMIM:609460
Thyroid Lymphoma	Goiter, Lymphadenopathy, Dysphagia	ORPHA:97285
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Upper eyelid coloboma, Tracheobronchomalacia, Femoral bowing, Ablepharon, Craniosyn...	OMIM:616462
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Hypertension,...	OMIM:266920
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Sandal gap, Highly arched eyebrow, Pulmonary arterial hypertension, Optic disc pallor	OMIM:300887
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Short nose, Anteverted nares, Downslanted palpebral fissures, Broad hallux, Epicanthus, Bulbous n...	OMIM:614105
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Enterocolit...	ORPHA:2686
Kaufman Oculocerebrofacial Syndrome	Short nose, Clinodactyly of the 5th finger, Telecanthus, Anteverted nares, Optic disc pallor, Con...	OMIM:244450
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Prostat...	ORPHA:158057
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Clubbing of fingers, Hypoplastic pubic bone, Short long bone, Limitation of joint mobi...	ORPHA:1865
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Large fontanelles, Finger syndactyly, Delayed cranial suture closure, Depressed nasal ridge, Broa...	ORPHA:2211
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose, Mandibular prognathia, Syndactyly, Narrow palpebral fissure, Upslanted palpebral fiss...	OMIM:618087
Psoriasis 14, Pustular	Cholangitis, Polyarticular arthritis, Leukocytosis, Pustule, Neutrophilia, Psoriasiform dermatiti...	OMIM:614204
Roifman Syndrome	Lymphadenopathy, Delayed proximal femoral epiphyseal ossification, Hepatosplenomegaly, Eosinophil...	ORPHA:353298
Gm1-Gangliosidosis, Type Ii	Optic atrophy, Sea-blue histiocytosis, Joint stiffness, Coxa valga, Splenomegaly, Thin bony cortex	OMIM:230600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Neutropenia, Anemia, Gout	OMIM:617056
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan ...	OMIM:252920
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Short nose, Short palpebral fissure, Choanal atresia, Synophrys, Pulmonic stenosis, Downslanted p...	ORPHA:284169
Waardenburg Syndrome Type 1	Short nose, Telecanthus, Mandibular prognathia, Synophrys, Ptosis, Thick eyebrow, White eyelashes...	ORPHA:894
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Delayed closure...	OMIM:304120
Developmental And Epileptic Encephalopathy 75	Optic atrophy, Short nose, Anteverted nares, Cardiomyopathy, Upslanted palpebral fissure, Wide na...	OMIM:618437
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Anterior tibial bowing, Dislocated radial head, Hypoplastic ...	OMIM:605274
Autosomal Dominant Robinow Syndrome	Retrognathia, Coxa valga, Hip dislocation, Anteverted nares, Short palm, Downslanted palpebral fi...	ORPHA:3107
Rhabdoid Tumor	Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy	ORPHA:69077
Hutchinson-Gilford Progeria Syndrome	Retrognathia, Abnormal nasal tip morphology, Reduced bone mineral density, Narrow nasal ridge, Na...	ORPHA:740
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Femur fracture, Osteopetrosis, Anemia, Optic nerve compression, Decreased circulat...	OMIM:612301
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly	OMIM:617441
Frontorhiny	Midline nasal groove, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Camptodactyly of fi...	ORPHA:391474
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Short nose, Overlapping fingers, Highly arched eyebrow, Anteverted nares, Synophrys, Long fingers...	OMIM:618316
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto...	OMIM:611490
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Painless fractures due to injury, Osteoarthritis, Septic arthritis, Recurrent fractu...	OMIM:608654
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Shortening of all distal phalanges of the fingers, Broad nasal tip, Upslanted palpebr...	OMIM:615716
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ...	OMIM:271640
Ogden Syndrome	Bilateral ptosis, Sandal gap, Bifid nasal tip, Premature ventricular contraction, Arrhythmia, Pal...	OMIM:300855
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Periportal fibrosis, Bone-marrow foam cells, Esopha...	OMIM:278000
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Tracheoesophageal fistula, Pyloric sten...	ORPHA:379
Meier-Gorlin Syndrome 6	Short nose, Entropion, Sandal gap, Anteverted nares, Underdeveloped nasal alae, Tracheobronchomal...	OMIM:616835
Congenital Myopathy 22B, Severe Fetal	Retrognathia, Short nose, Tapered toe, Slender long bone, Shoulder flexion contracture, Elbow fle...	OMIM:620369
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Joint subluxation, Hyperextensibility of the finger joints, Wormian bones, Joint hypermobility, H...	OMIM:617821
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Joint hypermobility, Osteoarthritis, Bronchiectasis	OMIM:620080
Wilson Disease	Anemia, Pathologic fracture, Acute hepatitis, Arthritis, Thrombocytopenia, Splenomegaly, Joint sw...	ORPHA:905
White-Sutton Syndrome	Optic nerve hypoplasia, Mandibular prognathia, Upslanted palpebral fissure, Depressed nasal tip, ...	OMIM:616364
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic...	OMIM:614034
Cardiofaciocutaneous Syndrome	Optic atrophy, Short nose, Genu valgum, Cubitus valgus, Sparse or absent eyelashes, Anteverted na...	ORPHA:1340
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Arthritis, Vasculitis, Increased circ...	ORPHA:343
Glycogen Storage Disease Ib	Xanthelasma, Pancreatitis, Hypertension, Osteoporosis, Inflammation of the large intestine, Splen...	OMIM:232220
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h...	OMIM:263300
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Aplasia/Hypoplasia of metatarsal bones, Recurrent otitis media, Flared metaphysis, Narrow iliac w...	ORPHA:2502
Lacrimoauriculodentodigital Syndrome	Corneal neovascularization, Hypoplasia of the lacrimal punctum, Anosmia, Absent thumb, Syndactyly...	ORPHA:2363
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly	OMIM:214900
Pterygium Colli, Isolated	Short nose, Epicanthus	OMIM:177990
Myhre Syndrome	Abnormal metaphysis morphology, Short palpebral fissure, Craniofacial hyperostosis, Mandibular pr...	ORPHA:2588
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Abnormal hip bone morphology, Sandal gap, Broad thumb, Short distal phalanx...	ORPHA:1507
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent f...	ORPHA:169090
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased B cell count, Incre...	ORPHA:98813
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
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Wide nasal base, Sandal gap, Broad 2nd toe, Short metacarpal, Pro...	OMIM:601358
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit...	ORPHA:234
Craniofacial-Deafness-Hand Syndrome	Short nose, Telecanthus, Hypoplasia of the maxilla, Downslanted palpebral fissures, Malar flatten...	OMIM:122880
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, Arthritis, Hypochromic microcytic anemia, Osteomyelitis	OMIM:619423
Glycogen Storage Disease Ia	Xanthelasma, Pancreatitis, Hypertension, Osteoporosis, Gout, Lipemia retinalis	OMIM:232200
Treacher-Collins Syndrome	Retrognathia, Abnormal dental enamel morphology, Abnormality of bone mineral density, Absent eyel...	ORPHA:861
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Glutamine Deficiency, Congenital	Short nose, Bradycardia, Anteverted nares, Camptodactyly, Flexion contracture, Wide nasal bridge,...	OMIM:610015
Microphthalmia/Coloboma 12	Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla...	OMIM:120200
Pediatric Systemic Lupus Erythematosus	Malar rash, Arthritis, Skin rash, Discoid lupus rash, Myositis, Nephritis, Thrombocytopenia, Leuk...	ORPHA:93552
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Trisomy 12P	Short nose, Clinodactyly of the 5th finger, Micrognathia, Thick eyebrow, Malar flattening, Epican...	ORPHA:1699
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Hypoplastic iliac wing, Abnormality of the calcaneus, Depressed nasal ridge, Metaphys...	ORPHA:163966
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Short nose, Narrow nasal bridge, Metacarpophalangeal joint contracture, Wrist hypermobility, Flex...	ORPHA:544503
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormal peritoneum morpho...	ORPHA:2357
Dyggve-Melchior-Clausen Disease	Limited elbow extension, Genu valgum, Abnormal hip bone morphology, Glenoid fossa hypoplasia, Hyp...	ORPHA:239
Ménétrier Disease	Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc...	ORPHA:2494
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Short long bone, Bowing of the long bones, Micrognathia, Malar flattening, Wide nasal ...	OMIM:224410
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Tracheobronchomalacia, Hypoplastic iliac win...	OMIM:114290
Systemic Sclerosis	Myocarditis, Nail bed telangiectasia, Osteolytic defects of the phalanges of the hand, Arthritis,...	ORPHA:90291
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Hypertension, Short long bone, Aortic valve s...	OMIM:139210
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t...	OMIM:221900
Loeys-Dietz Syndrome 5	Retrognathia, Flexion contracture of toe, Bilateral coxa valga, Congenital finger flexion contrac...	OMIM:615582
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen, Abnormality of ...	ORPHA:33276
Immunodeficiency 46	Chronic oral candidiasis, Meningitis, Recurrent sinopulmonary infections, Conjunctivitis	OMIM:616740
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short nose, Retinal coloboma, Horizontal eyebrow, Microretrognathia, Epicanthus, Overlapping toe,...	OMIM:618571
Alg12-Cdg	Abnormal bone ossification, Proximal placement of thumb, Sandal gap, Short long bone, Chronic rhi...	ORPHA:79324
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Recurrent pharyngitis, Myositis, Arthritis, Vasculitis, Skin rash, Leukocytosis, Pericarditis, Co...	ORPHA:32960
Peho Syndrome	Optic atrophy, Short nose, Palpebral edema, Anteverted nares, Limitation of joint mobility, Malar...	ORPHA:2836
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Short nose, Large fontanelles, Generalized joint hypermobility, Adducted thumb, Aortic regurgitat...	OMIM:601776
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Short nose, Thick nasal alae, Micrognathia, Chorioretinal coloboma	ORPHA:163961
Adams-Oliver Syndrome 6	Hepatic fibrosis, Esophageal varix, Splenomegaly, Portal hypertension	OMIM:616589
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative dis...	ORPHA:79456
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Pyloric stenosis, Craniosynostosis, High palate, Bilateral cryptorchidism	ORPHA:314575
Autoinflammation With Infantile Enterocolitis	Skin rash, Short stature, Enterocolitis, Diffuse alveolar hemorrhage, Meningitis	OMIM:616050
Fetal Alcohol Syndrome	Short nose, Telecanthus, Anteverted nares, Joint stiffness, Ptosis, Micrognathia, Epicanthus	ORPHA:1915
Systemic Mastocytosis With Associated Hematologic Neoplasm	Peptic ulcer, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chron...	ORPHA:98849
Intellectual Developmental Disorder, Autosomal Dominant 1	Retrognathia, Short nose, Clinodactyly of the 5th finger, Sandal gap, Highly arched eyebrow, Mand...	OMIM:156200
Rhyns Syndrome	Osteopenia, Short long bone, Osteoporosis, Ptosis, Short femoral neck, Radial bowing, Brachydacty...	OMIM:602152
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Xanthelasma, Anemia, Pancreatitis, Periodontitis, Thyroiditis, Hypertension, Chronic ...	ORPHA:79259
Meier-Gorlin Syndrome 4	Slender long bone, Genu recurvatum, Hypoplasia of the maxilla, Micrognathia, Patellar aplasia	OMIM:613804
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Psoriasiform dermatitis, Thyroiditis, Recurrent gastroenteritis, Pneumonia, Autoimmune thrombocyt...	ORPHA:37042
Immunodeficiency 31C	Autoimmune hemolytic anemia, Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with ph...	OMIM:614162
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Short nose, Clinodactyly of the 5th finger, Delayed eruption of teeth, Anteverted na...	OMIM:247200
Diamond-Blackfan Anemia 1	Retrognathia, Macrocytic anemia, Absent thumb, Congenital hypoplastic anemia, Neutropenia, Hypopl...	OMIM:105650
Alkuraya-Kucinskas Syndrome	Short nose, Overlapping fingers, Anteverted nares, Camptodactyly, Cutaneous syndactyly, Micrognat...	OMIM:617822
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Mandibular prognathia, Prominent nasal bridge	OMIM:300676
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, High palate, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Singleton-Merten Syndrome 1	Osteopenia, Congestive heart failure, Hip subluxation, Genu valgum, Osteolytic defects of the pha...	OMIM:182250
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hepatomegaly, Fatigable weakness, Cardiomegaly, Elevated urinary 3-hydroxy...	ORPHA:42
Distal Xq28 Microduplication Syndrome	Hypoplasia of the maxilla, Metatarsus adductus, Broad nasal tip, Epistaxis, Aplasia/Hypoplasia of...	ORPHA:293939
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Short palpebral fissure, Mandibular prognathia, Subdural hemorrhage, Osteoarthritis, Wide nasal b...	OMIM:619714
Giant Cell Arteritis	Optic atrophy, Recurrent pharyngitis, Arthritis, Vasculitis, Cerebral ischemia, Joint stiffness, ...	ORPHA:397
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Pericardial effusion, Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614702
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo...	ORPHA:263665
Acrofacial Dysostosis, Catania Type	Short nose, Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Carious teet...	ORPHA:1786
Pfeiffer Syndrome Type 2	Short nose, Deviation of the thumb, Tracheomalacia, Short hallux, Finger syndactyly, Limitation o...	ORPHA:93259
Rat-Bite Fever	Myocarditis, Morbilliform rash, Anemia, Pancreatitis, Arthritis, Skin rash, Erythema nodosum, Par...	ORPHA:31205
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly, Gastroesophageal reflux	ORPHA:2414
Rheumatoid Arthritis	Polyarticular arthritis, Vasculitis, Interphalangeal joint erosions, Rheumatoid arthritis, Joint ...	OMIM:180300
Trisomy 18	Short nose, Abnormality of the fontanelles or cranial sutures, Abnormal hip bone morphology, Post...	ORPHA:3380
Extracranial Carotid Artery Aneurysm	Arteritis, Vasculitis, Hypertension, Cerebral ischemia, Total anomalous pulmonary venous return, ...	ORPHA:494424
Mucolipidosis Type Ii	Cardiomyopathy, Shallow orbits, Splenomegaly, Limited shoulder movement, Craniosynostosis, Telang...	ORPHA:576
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Thymic Neuroendocrine Tumor	Osteopenia, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, C...	ORPHA:97289
Mucopolysaccharidosis Type 2, Severe Form	Temporomandibular joint ankylosis, Hypertension, Cardiomyopathy, Retinopathy, Abnormal foveal mor...	ORPHA:217085
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Chromosome 15Q11.2 Deletion Syndrome	Short finger, Slender finger, Arachnodactyly, Micrognathia, Joint contracture, Clinodactyly, Swan...	OMIM:615656
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Sinusitis, Rhinitis, Recurrent upper and lower respiratory tract infections, O...	ORPHA:70593
Acrocallosal Syndrome	Bifid distal phalanx of the thumb, Hypopigmentation of the fundus, Optic atrophy, Postaxial hand ...	OMIM:200990
Toluene Embryopathy	Short nose, Short palpebral fissure, Micrognathia, Epicanthus, Hypoplasia of the zygomatic bone, ...	ORPHA:1920
Dyskeratosis Congenita	Anemia, Periodontitis, Abnormal eyelash morphology, Osteoporosis, Hypoplasia of the maxilla, Cari...	ORPHA:1775
Immunodeficiency 82 With Systemic Inflammation	Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreased circulating total IgA, Red...	OMIM:619381
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Wiedemann-Steiner Syndrome	Short nose, Short palpebral fissure, Clinodactyly of the 5th finger, Telecanthus, Hyperextensibil...	ORPHA:319182
Tetrasomy 18P	Syncope, Short nose, Downslanted palpebral fissures, Epicanthus	ORPHA:3307
Congenital Heart Defects And Skeletal Malformations Syndrome	Short nose, Long nose, Medial flaring of the eyebrow, Clinodactyly of the 5th finger, Sandal gap,...	OMIM:617602
Down Syndrome	Short nose, Abnormality of the fontanelles or cranial sutures, Clinodactyly of the 5th finger, Sa...	ORPHA:870
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Short nose, Hip subluxation, Congestive heart failure, Fibular hypoplasia, Cervical C2/C3 vertebr...	ORPHA:444077
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Retrognathia, Short nose, Anteverted nares, Sparse eyelashes, Hypoplasia of teeth,...	OMIM:234050
Mucopolysaccharidosis Type 2, Attenuated Form	Temporomandibular joint ankylosis, Hypertension, Cardiomyopathy, Retinopathy, Abnormal foveal mor...	ORPHA:217093
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Short nose, Abnormal fibula morphology, Sandal gap, Abnormal dental enamel morpholo...	ORPHA:1812
Sweet Syndrome	Small vessel vasculitis, Anemia, Acute myeloid leukemia, Panniculitis, Chronic lymphatic leukemia...	ORPHA:3243
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Limitation of joint mobility, Co...	OMIM:313400
Sitosterolemia 1	Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Ar...	OMIM:210250
Mucopolysaccharidosis Type 2	Optic atrophy, Hip osteoarthritis, Wide nose, Flexion contracture of digit, Temporomandibular joi...	ORPHA:580
Alkaptonuria	Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Limited sh...	OMIM:203500
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Decreased proportion of me...	OMIM:618394
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration	OMIM:193230
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Mandibular prognathia, Bulbous nose	ORPHA:93945
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le...	OMIM:300280
Familial Atrial Myxoma	Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma	ORPHA:615
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity...	ORPHA:3261
Cysticercosis	Infectious encephalitis, Abnormal myocardium morphology, Iridocyclitis	ORPHA:1560
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
19P13.13 Microdeletion Syndrome	Optic atrophy, Short nose, Sandal gap, Anteverted nares, Optic nerve hypoplasia, Long eyelashes, ...	ORPHA:357001
Diamond-Blackfan Anemia 8	Short nose, Macrocytic anemia, Increased mean corpuscular volume, Wide nasal bridge, Neutropenia	OMIM:612563
Roifman Syndrome	Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616651
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Recurrent otitis media, Underdeveloped nasal alae, Hypoplasia of th...	OMIM:129400
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Increased circulating antibody level, Pancytopenia, Arthritis, Bone cys...	OMIM:181000
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly	OMIM:235555
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Congenital Disorder Of Glycosylation, Type Il	Short nose, Splenomegaly, Depressed nasal bridge, Hip dislocation	OMIM:608776
Xylt1-Cdg	Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Synophrys, Broad thumb, S...	ORPHA:370930
Pulmonary Arteriovenous Malformation	Recurrent abscess formation, Ischemic stroke, Myocardial infarction, Bacterial endocarditis, Tran...	ORPHA:2038
Al-Raqad Syndrome	Joint hypermobility, Short nose, Brachydactyly, Sandal gap	OMIM:616459
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, E...	OMIM:212140
Schinzel-Giedion Syndrome	Retrognathia, Stiff elbow, Tibial bowing, Shallow orbits, Short distal phalanx of finger, Overlap...	ORPHA:798
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement	OMIM:614473
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Short nose, Wide anterior fontanel, Congenital hip dislocation, Contracture of the proximal inter...	ORPHA:457279
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Narrow palpebral fissure, Short nose, Mandibular prognathia, Tapered finger, Ptosis, Downslanted ...	OMIM:613603
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Postaxial hand polydactyly, Microretrognathia	ORPHA:1389
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Pe...	ORPHA:2538
Aortic Aneurysm, Familial Thoracic 12	Arthritis, Aortic regurgitation	OMIM:619825
8P23.1 Microdeletion Syndrome	Short nose, Proximal placement of thumb, Tapered finger, Hypertrophic cardiomyopathy, Broad thumb...	ORPHA:251071
Generalized Pustular Psoriasis	Congestive heart failure, Cheilitis, Arthritis, Leukocytosis, Palmoplantar pustulosis, Pustule, L...	ORPHA:247353
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Large fontanelles, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly ...	OMIM:300373
Jacobsen Syndrome	Optic atrophy, Short nose, Clinodactyly of the 5th finger, Telecanthus, Anteverted nares, Abnorma...	OMIM:147791
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia, Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, La...	ORPHA:90674
Simple Cryoglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Monoclonal elevation of IgG, Chronic lymph...	ORPHA:91139
Menkes Disease	Abnormal metaphysis morphology, Gastrointestinal hemorrhage, Tarsal synostosis, Bowing of the lon...	ORPHA:565
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Skin rash, Recurrent bacterial meningitis, Recurrent pneumonia, Pneumon...	OMIM:300400
Yunis-Varon Syndrome	Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Hypertension, Cardio...	ORPHA:3472
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short long bone, Metaphyseal irregularity, Joint hypermobility, Short 4th metacar...	OMIM:618019
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Bile du...	OMIM:613812
Melioidosis	Lung abscess, Pneumonia, Liver abscess, Prostatitis, Foot osteomyelitis, Acute infectious pneumon...	ORPHA:31202
Dermotrichic Syndrome	Short nose, Anemia, Blepharophimosis, Depressed nasal bridge	ORPHA:99688
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, W...	OMIM:617925
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Hyper-Igd Syndrome	Chronic oral candidiasis, Arthritis, Skin rash, Serositis, Increased circulating IgA level, Leuko...	OMIM:260920
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Carpal bone hypoplasia, Genu valgum, Recurrent otitis media, Metaphyseal cupping, Narrow iliac wi...	OMIM:250420
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Osteochondritis dissecans, Aortic regurgitation, Intervertebral disk degeneration, ...	ORPHA:284984
Robinow Syndrome, Autosomal Dominant 3	Short nose, Telecanthus, Anteverted nares, Tricuspid regurgitation, Camptodactyly, Long eyelashes...	OMIM:616894
Adiposis Dolorosa	Arthritis, Telangiectasia of the skin, Recurrent skin infections	ORPHA:36397
Ring Chromosome 7 Syndrome	Short nose, Bilateral ptosis, Genu valgum, Clinodactyly of the 5th finger, Small hand, Highly arc...	ORPHA:1449
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Fabry Disease	Optic atrophy, Congestive heart failure, Reduced bone mineral density, Anemia, Abnormal femur mor...	ORPHA:324
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Coxa vara, Carious teeth, Down...	ORPHA:2834
Holoprosencephaly 9	Agenesis of incisor, Short nose, Single naris, Wide anterior fontanel, Optic nerve hypoplasia, Po...	OMIM:610829
Gaucher Disease	Increased circulating antibody level, Retinopathy, Joint stiffness, Leukopenia, Splenomegaly, Pat...	ORPHA:355
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Short nose, Clinodactyly of the 5th finger, Sandal gap, Epicanthus, Bulbous nose, Tapered finger,...	OMIM:618430
Chops Syndrome	Optic atrophy, Short nose, Cervical C2/C3 vertebral fusion, Tracheomalacia, Anteverted nares, Asp...	OMIM:616368
Blau Syndrome	Iritis, Flexion contracture of toe, Arthritis, Cystoid macular edema, Hypertension, Erythema nodo...	OMIM:186580
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame...	OMIM:254450
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthrit...	OMIM:106300
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Degcags Syndrome	Retrognathia, Abnormal spleen morphology, Pulmonic stenosis, Abnormal eyebrow morphology, Leukope...	OMIM:619488
Toriello-Carey Syndrome	Short nose, Short palpebral fissure, Telecanthus, Wide anterior fontanel, Cardiomyopathy, Pulmoni...	ORPHA:3338
Reactive Arthritis	Aortic regurgitation, Recurrent aphthous stomatitis, Arthritis, Joint stiffness, Pericarditis, Pu...	ORPHA:29207
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short nose, Clinodactyly of the 5th finger, Slanting of the palpebral fissure, Congenital ptosis,...	ORPHA:476126
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Retrognathia, Short nose, Short palpebral fissure, Cubitus valgus, Short metatarsal, Anteverted n...	OMIM:617157
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Wide nasal bridge, Depressed nasal bridge, Telecanthus	ORPHA:782
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopen...	OMIM:619644
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
Coffin-Siris Syndrome 12	Highly arched eyebrow, Ridged cranial sutures, Broad thumb, Heart murmur, Joint hypermobility, An...	OMIM:619325
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Broad lateral eyebrow, Optic nerve hypoplasia, Arachnodactyly, Absent thumb, Joint hypermobility,...	ORPHA:500150
Primrose Syndrome	Reduced bone mineral density, Generalized osteoporosis, Joint hypermobility, Short distal phalanx...	OMIM:259050
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
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Hypoplasia of the zygomatic bone, Malar flattening, Depressed nasal bridge	ORPHA:2835
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Short long bone, Vertebral fusion	OMIM:618845
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Cranioectodermal Dysplasia 2	Retrognathia, Hypertension, Splenomegaly, Syndactyly, Joint hypermobility, Craniosynostosis, Clin...	OMIM:613610
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Atrial septal defect, Patent ductus arteriosus, Dysplastic pulmonar...	OMIM:612863
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Palpebral edema, Angina pectoris, Arthritis, Vasculitis, Skin rash, ...	ORPHA:93672
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Ptosis, Downslanted palpebral fissures, Epicanthus, Gout, Convex nasal ridge, Depress...	OMIM:300661
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Syndactyly, Hip dislocation, Sho...	OMIM:146510
Developmental Delay With Or Without Dysmorphic Facies And Autism	Short nose, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Highly arched eyebrow, ...	OMIM:618454
Helsmoortel-Van Der Aa Syndrome	Bilateral ptosis, Sandal gap, Prominent fingertip pads, Short lower limbs, Ectropion of lower eye...	OMIM:615873
Cantu Syndrome	Bicuspid aortic valve, Osteoporosis, Pericardial effusion, Congenital hypertrophy of left ventric...	OMIM:239850
Congenital Tufting Enteropathy	Punctate keratitis, Arthritis, Choanal atresia, Optic disc coloboma	ORPHA:92050
7Q31 Microdeletion Syndrome	Short palpebral fissure, Telecanthus, Clinodactyly of the 2nd finger, Prominent fingertip pads, H...	ORPHA:251061
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis	ORPHA:397744
Macrocephaly/Autism Syndrome	Short nose, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly, Epicanthu...	OMIM:605309
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Increased susceptibility to fractures, Abnormal bone ossification, Reduced bone mineral density, ...	ORPHA:93315
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Splenomegaly, Abnormally ossified vertebrae	ORPHA:3035
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinusitis, Meningitis	OMIM:619707
Hsd10 Disease, Infantile Type	Optic atrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Retinal degeneration, Abnormal concentr...	ORPHA:391428
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Chronic lymphatic leukemia, Systemic lupus...	ORPHA:90033
Riddle Syndrome	Decreased circulating total IgM, Arthritis, Conjunctival telangiectasia, Decreased circulating Ig...	ORPHA:420741
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Cheilitis, Joint stiffness, Joint hypermobility, Abnormal epiphysis morphol...	ORPHA:534
Jacobsen Syndrome	Ectropion, Aortic valve stenosis, Bone marrow hypocellularity, Hip dislocation, Anteverted nares,...	ORPHA:2308
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Retinal detachment, Mandibular prognathia, Tapered finger, Calcaneovalgus deformity, Prominent me...	ORPHA:521445
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Retinal atrophy, Femoral bowing, Tibial bowing, Short long bone, Sh...	OMIM:608940
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Short nose, Tapered finger, Long hallux	OMIM:619854
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly	OMIM:600649
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C...	ORPHA:99812
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ...	OMIM:613179
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Menke-Hennekam Syndrome 1	Sandal gap, Joint hypermobility, Overlapping toe, Anteverted nares, Downslanted palpebral fissure...	OMIM:618332
Shigellosis	Myocarditis, Acute colitis, Arthritis, Splenic abscess, Hypovolemic shock, Leukocytosis, Thromboc...	ORPHA:810
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Recurrent lower respiratory tract infections, Short stature, Ganglioneuroma, Rec...	ORPHA:293987
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Bilateral choanal atresia, Absent eyelashes, Lacrimal duct atresia, 2-3 toe syndactyly, Hypoplasi...	OMIM:106260
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Short nose, Short palpebral fissure, Decreased heart rate variability, Low insertion of columella...	OMIM:619005
Cutis Laxa, Autosomal Recessive, Type Iic	Entropion, Aortic regurgitation, Anteverted nares, Mandibular prognathia, Right bundle branch blo...	OMIM:617402
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Incr...	OMIM:300048
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Combined Oxidative Phosphorylation Deficiency 33	Astigmatism, Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Card...	OMIM:617713
Glycogen Storage Disease Vii	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Hemolytic anemia, Gout	OMIM:232800
Adenocarcinoma Of The Anal Canal	Rectal prolapse, Anal stenosis, Lymphadenopathy, Neoplasm of the rectum, Anal canal adenocarcinom...	ORPHA:424016
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Advanced eruption of teeth, Highly arched eyebrow, Broad columella, Thick eyebrow, De...	OMIM:617865
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout	OMIM:162000
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly	OMIM:619064
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macr...	ORPHA:227990
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymphadenitis, Inflammation of ...	OMIM:615895
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Mandibular prognathia, Hypoplasia of the maxilla	OMIM:601216
Carey-Fineman-Ziter Syndrome	Short nose, Anteverted nares, Hypertensive crisis, Ptosis, Downslanted palpebral fissures, Microg...	ORPHA:1358
Hardikar Syndrome	Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Cholestasis, Intestinal m...	OMIM:301068
Silver-Russell Syndrome	Clinodactyly of the 5th finger, Sandal gap, Abnormal appendicular skeleton morphology, Delayed cr...	ORPHA:813
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Protein-losing enteropathy, Abnormal fallopian tube morphology, Pancreatic lymphang...	ORPHA:1655
Micro Syndrome	Optic atrophy, Short nose, Anteverted nares, Retinal coloboma, Joint stiffness, Micrognathia, Abn...	ORPHA:2510
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal...	ORPHA:79124
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Rickets, Bone spicule pigmentation of the retina, Glycosuria, Cataract, Stage 5 ch...	OMIM:268315
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Thrombocytopenia	OMIM:188025
Spondyloocular Syndrome	Osteopenia, Femur fracture, Retinal detachment, Arachnodactyly, Long fingers, Overlapping toe, Lo...	OMIM:605822
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short nose, Optic nerve hypoplasia, Retinal coloboma, Micrognathia, Downslanted palpebral fissure...	OMIM:300749
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Clinodactyly of the 5th finger, Anteverted nares, Ptosis, Chorioretinal coloboma, Ble...	ORPHA:2031
Tetrasomy 9P	Amelogenesis imperfecta, Abnormal chorioretinal morphology, Large fontanelles, Clinodactyly of th...	ORPHA:3310
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro...	ORPHA:158061
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Sclerosis of hand bone, Ascites, Polycythemia, Scle...	ORPHA:2905
Autosomal Recessive Faciodigitogenital Syndrome	Short nose, Clinodactyly of the 5th finger, Telecanthus, Finger syndactyly, Anteverted nares, Sho...	ORPHA:1974
Macrocephaly-Intellectual Disability-Autism Syndrome	Preaxial hand polydactyly, Short nose, Depressed nasal bridge, Foot polydactyly	ORPHA:210548
Fontaine Progeroid Syndrome	Convex nasal ridge, Retrognathia, Short nose, Short palpebral fissure, Aplastic/hypoplastic lacri...	OMIM:612289
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Primary Sjögren Syndrome	Increased circulating antibody level, Normochromic anemia, Optic neuritis, Leukopenia, Lymphopeni...	ORPHA:289390
Boutonneuse Fever	Thrombocytopenia, Leukopenia, Lymphadenopathy, Cervical lymphadenopathy	ORPHA:83313
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Retrognathia, Short nose, Highly arched eyebrow, Anteverted nares, Tapered finger, Choanal atresi...	OMIM:301044
Phocomelia, Schinzel Type	Short nose, Hypoplasia of the radius, Fibular aplasia, Abnormal tibia morphology, Aplasia of the ...	ORPHA:2879
Dowling-Degos Disease	Arthritis, Acne inversa	ORPHA:79145
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega...	OMIM:612783
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Abnormal vitreous humor morphology, Mandibular prognathia, Abnormal size of the palpebral fissure...	ORPHA:1101
Classical Ehlers-Danlos Syndrome	Osteopenia, Generalized joint hypermobility, Abnormality of the temporomandibular joint, Orthosta...	ORPHA:287
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Synophrys	DECIPHER:52
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Adams-Oliver Syndrome 5	Esophageal varix, Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy, Hypersplenism	OMIM:616028
Kleefstra Syndrome	Chronic otitis media, Short nose, Advanced eruption of teeth, Delayed eruption of teeth, Tracheom...	ORPHA:261494
Pontocerebellar Hypoplasia, Type 10	Short nose, Low hanging columella, Highly arched eyebrow, Tapered finger, Long eyelashes, Synophr...	OMIM:615803
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp...	OMIM:115197
Barber-Say Syndrome	Ectropion, Clinodactyly of the 5th finger, Wide nose, Delayed eruption of teeth, Telecanthus, Ant...	OMIM:209885
Granulomatosis With Polyangiitis	Chronic otitis media, Gastrointestinal hemorrhage, Prostatitis, Pancreatitis, Inflammatory abnorm...	ORPHA:900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Postaxial hand ...	OMIM:615630
Hypermobile Ehlers-Danlos Syndrome	Abnormality of the wrist, Keratoconjunctivitis sicca, Joint dislocation, Limitation of joint mobi...	ORPHA:285
Common Variable Immunodeficiency	Lymphadenopathy, Gastrointestinal stroma tumor, Anal atresia, Splenomegaly, Lymphopenia, Abnormal...	ORPHA:1572
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Protein-losing enteropathy, Pancreatic lymphangiectasis, High palate, Ascites, Clef...	OMIM:235255
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Norrie Disease	Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of...	OMIM:310600
Monosomy 9P	Short nose, Proximal placement of thumb, Highly arched eyebrow, Anteverted nares, Limitation of j...	ORPHA:261112
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis...	OMIM:208540
Cog1-Cdg	Osteopenia, Short long bone, Flat acetabular roof, Pulmonary arterial hypertension, Micrognathia,...	ORPHA:263508
Rhombencephalosynapsis	Polydactyly, Short nose, Finger syndactyly, Anteverted nares, Septo-optic dysplasia, Short phalan...	ORPHA:59315
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Joint stiffness, Bone marrow hypocellularity, Leukopenia, Optic atrophy, Pulmonary arterial hyper...	ORPHA:505248
Axenfeld-Rieger Syndrome, Type 2	Hypoplasia of the maxilla, Mandibular prognathia, Wide nasal bridge, Telecanthus	OMIM:601499
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macr...	ORPHA:227982
Jaberi-Elahi Syndrome	Optic atrophy, Short nose, Joint stiffness, Sparse eyelashes, Sparse eyebrow, Joint hypermobility...	OMIM:617988
Melkersson-Rosenthal Syndrome	Furrowed tongue, Lymphadenopathy, Macroglossia	ORPHA:2483
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Achondrogenesis, Type Ii	Short tubular bones of the hand, Hypoplastic iliac wing, Short long bone, Broad long bones, Micro...	OMIM:200610
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ...	ORPHA:86843
Osteopetrosis, Autosomal Recessive 9	Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Papilledema, Pathologi...	OMIM:620366
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hemophilia A	Hematemesis, Melena, Muscle hemorrhage, Joint hemorrhage, Epistaxis, Osteoarthritis	OMIM:306700
Hereditary Spherocytosis	Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Restri...	ORPHA:822
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal hear...	ORPHA:488618
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Long palpebral fissure, Recurrent pneumonia, Prominent nasal bridge, Prominent eyelas...	OMIM:619179
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Relapsing Polychondritis	Myocarditis, Large vessel vasculitis, Recurrent aphthous stomatitis, Inflammatory abnormality of ...	ORPHA:728
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Floating-Harbor Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Broad thumb, Joint hy...	OMIM:136140
Pyknoachondrogenesis	Short iliac bones, Palpebral edema, Craniofacial hyperostosis, Abnormal iliac wing morphology, Sh...	ORPHA:3003
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Attrv122I Amyloidosis	Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos...	ORPHA:85451
Wiedemann-Rautenstrauch Syndrome	Retrognathia, Pulmonic stenosis, Short humerus, Joint hypermobility, Long toe, Optic atrophy, Ent...	ORPHA:3455
Frontofacionasal Dysplasia	Short nose, Midline defect of the nose, S-shaped palpebral fissures, Telecanthus, Hypoplasia of t...	OMIM:229400
Ablepharon Macrostomia Syndrome	Anteverted nares, Underdeveloped nasal alae, Absent eyelashes, Ablepharon, Hypoplasia of the maxi...	ORPHA:920
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Cardiomyopathy, Broad thumb, Splenomegaly, Anteverted nares, Postaxial han...	ORPHA:373
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Retinal detachment, Macular degeneration, Lens luxation, Vesicourete...	OMIM:120330
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Retrognathia, Anemia, Schistocytosis, Short long bone, Long eyelashes, Leukopenia, Thrombocytopen...	OMIM:301110
Intellectual Developmental Disorder, X-Linked 98	Long nose, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Mandibular prognathia, U...	OMIM:300912
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Short nose, Camptodactyly, Shallow orbits, Long eyelashes, Downslanted palpeb...	OMIM:601353
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula...	ORPHA:231226
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Pulmon...	OMIM:261540
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension, Gout	OMIM:618061
Postinfectious Vasculitis	Gastrointestinal inflammation, Ischemic stroke, Increased circulating antibody level, Arthritis, ...	ORPHA:48435
Pfeiffer Syndrome Type 3	Short nose, Tracheomalacia, Short hallux, Finger syndactyly, Limitation of joint mobility, Choana...	ORPHA:93260
Meckel Syndrome, Type 8	Polydactyly, Short nose, Depressed nasal ridge	OMIM:613885
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Syndac...	OMIM:134780
Kawasaki Disease	Myocarditis, Congestive heart failure, Cheilitis, Recurrent pharyngitis, Arthritis, Vasculitis, S...	ORPHA:2331
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid...	OMIM:609049
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Congestive heart failure, Short nose, Short palpebral fissure, Wide nose, Micrognat...	OMIM:608779
Mucopolysaccharidosis Type 3	Optic atrophy, Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, Reduced bone mineral...	ORPHA:581
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Short nose, HbH hemoglobin, Radial deviation of finger, Hypochromic microcytic anemia, Reduced al...	OMIM:301040
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Abnormal s...	ORPHA:2035
Mosaic Variegated Aneuploidy Syndrome 1	Short nose, Wide nose, Anteverted nares, Leukemia, Pulmonic stenosis, Short sternum, Micrognathia...	OMIM:257300
Deeah Syndrome	Retrognathia, Short nose, Short palpebral fissure, Decreased heart rate variability, Prominent na...	OMIM:619004
16P13.11 Microdeletion Syndrome	Short nose, Anteverted nares, Camptodactyly of finger, Downslanted palpebral fissures, Metatarsus...	ORPHA:261236
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Retinal thinning, Flared metaphysis, Retinal atrophy, Short long bo...	ORPHA:85167
Orofaciodigital Syndrome Type 4	Absent crus of helix, Retrognathia, Short nose, Joint dislocation, Wide nose, Finger syndactyly, ...	ORPHA:2753
Blau Syndrome	Polyarticular arthritis, Skin rash, Hypertension, Abnormal optic nerve morphology, Retinopathy, P...	ORPHA:90340
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Behcet Syndrome	Iritis, Arthritis, Chorioretinitis, Raynaud phenomenon, Epididymitis, Iridocyclitis, Erythema nod...	OMIM:109650
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati...	OMIM:231005
Oculogastrointestinal Muscular Dystrophy	Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro...	ORPHA:1876
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Aicardi-Goutieres Syndrome 7	Hematemesis, Anemia, Increased circulating antibody level, Pancytopenia, Arthritis, Vasculitis, H...	OMIM:615846
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Carpal bone hypoplasia, Genu valgum, Flared femoral metaphysis, ...	OMIM:184253
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Por...	OMIM:610199
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Arthritis, Skin rash, Ch...	OMIM:301074
Prader-Willi Syndrome Due To Translocation	Retrognathia, Short nose, Underdeveloped nasolabial fold, Clinodactyly of the 5th finger, Narrow ...	ORPHA:177907
Loeys-Dietz Syndrome 3	Retrognathia, Pulmonic stenosis, Arachnodactyly, Joint hypermobility, Craniosynostosis, Aortic re...	OMIM:613795
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Esophageal varix, Chole...	ORPHA:264580
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
Oculocerebral Hypopigmentation Syndrome, Cross Type	Short nose, Ectropion, Abnormal thumb morphology, Anemia, Anteverted nares, Limitation of joint m...	ORPHA:2719
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Postaxial polydacty...	OMIM:614091
Toriello-Lacassie-Droste Syndrome	Short nose, Short palpebral fissure, Telecanthus, Anteverted nares, Short palm, Epicanthus, Eyeli...	ORPHA:3339
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Gout	ORPHA:411543
Whim Syndrome	Severe periodontitis, Parotitis, Lymphadenitis, Bronchiectasis, Sinusitis, Verrucae, Papilloma, R...	ORPHA:51636
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis	OMIM:179010
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Corneal scarring, Cataract, Buphthalmos, Macular atrophy, Iris coloboma	OMIM:212550
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Enterocolitis, Micrognathia, Bone marrow hypocellularity	OMIM:301108
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr...	OMIM:306955
Cleft Lip/Palate	Recurrent otitis media, Peg-shaped maxillary lateral incisors, Hypoplasia of the maxilla, Dental ...	ORPHA:199306
Hereditary Xanthinuria	Rheumatoid arthritis, Arthropathy, Gout	ORPHA:3467
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Autosomal Dominant Cutis Laxa	Osteopenia, Congestive heart failure, Adducted thumb, Aortic regurgitation, Genu recurvatum, Dela...	ORPHA:90348
Familial Mediterranean Fever	Pancreatitis, Arthritis, Vasculitis, Skin rash, Leukocytosis, Pericarditis, Erysipelas, Osteoarth...	ORPHA:342
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Hypoparath...	ORPHA:231214
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hepatomegaly, Cardiomegaly, Long-chain dicarboxylic acidur...	OMIM:608836
Fucosidosis	Mucopolysacchariduria, Hepatomegaly, Corneal opacity, Cardiomegaly	ORPHA:349
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Tibial torsion, Hyposmia, Highly arched eyebrow, Delayed cranial suture closure, 2-3 toe syndacty...	OMIM:618653
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short greater sciatic notch, Cardiomyopathy, Flared iliac wing, Pul...	OMIM:312870
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Glomerulonephritis	ORPHA:99931
Hemophilia B	Hematemesis, Gastrointestinal hemorrhage, Melena, Joint hemorrhage, Epistaxis, Osteoarthritis	OMIM:306900
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Alport Syndrome 2, Autosomal Recessive	Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Nephritis, Proteinuria, Cata...	OMIM:203780
Gm1 Gangliosidosis Type 1	Broad long bone diaphyses, Short long bone, Cardiomyopathy, Broad metacarpals, Aspiration pneumon...	ORPHA:79255
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Okamoto Syndrome	Polydactyly, Short nose, Anteverted nares, Underdeveloped nasal alae, Prominent metopic ridge, Ao...	ORPHA:2729
Yunis-Varon Syndrome	Absent sternal ossification, Flat acetabular roof, Decreased skull ossification, Cardiomyopathy, ...	OMIM:216340
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Splenomegal...	OMIM:306400
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Ileus, Osteoporosis, Pyloric stenosis, Splenomegaly, Dysphagia, Hepatic...	OMIM:613327
Kikuchi-Fujimoto Disease	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Abnormality of the gastroi...	ORPHA:50918
Restrictive Dermopathy	Osteopenia, Short palpebral fissure, Entropion, Sparse or absent eyelashes, Telecanthus, Temporom...	ORPHA:1662
Carcinoid Syndrome	Hepatic necrosis, Intestinal carcinoid, Chronic noninfectious lymphadenopathy, Small intestine ca...	ORPHA:100093
Carney Triad	Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Pheochromocyto...	ORPHA:139411
Loeys-Dietz Syndrome 6	Osteochondritis dissecans, Hip osteoarthritis, Intervertebral disk degeneration, Knee osteoarthri...	OMIM:619656
Familial Mediterranean Fever	Arthritis, Crohn's disease, Leukocytosis, Pericarditis, Erysipelas, Neutrophilia, Splenomegaly, O...	OMIM:249100
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Acromegaly	Macrodactyly, Palpebral edema, Cortical diaphyseal thickening of the upper limbs, Wide nose, Broa...	ORPHA:963
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Witteveen-Kolk Syndrome	Radial deviation of finger, Proximal placement of thumb, Shallow orbits, Arachnodactyly, Joint hy...	OMIM:613406
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Pyoderma Gangrenosum	Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i...	ORPHA:48104
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Short finger, Bradycardia, Optic nerve hypoplasia, Delayed cranial suture closure, Delayed proxim...	ORPHA:226307
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Esophageal varix, Portal hyperte...	OMIM:263200
Trichothiodystrophy 1, Photosensitive	Retrognathia, Short nose, Decreased circulating IgG level, Flexion contracture, Erythroderma, Ker...	OMIM:601675
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Right ventricular dilatation, Right ventricular hypertrophy	OMIM:253700
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Marburg Hemorrhagic Fever	Increased circulating antibody level, Bradycardia, Skin rash, Reticulocytosis, Pericarditis, Leuk...	ORPHA:99826
Coffin-Siris Syndrome	Short nose, Wide nasal base, Delayed eruption of teeth, Anteverted nares, Thick nasal alae, Aspir...	ORPHA:1465
H Syndrome	Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased testicular size, Hepatosplenomegaly, Hyp...	ORPHA:168569
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly	OMIM:613027
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Hypertrophic cardiomyopathy,...	OMIM:201475
Glycogen Storage Disease Ic	Xanthelasma, Chronic pancreatitis, Stomatitis, Spider hemangioma, Hypertension, Pulmonary arteria...	OMIM:232240
Gaucher Disease, Perinatal Lethal	Retrognathia, Short nose, Anemia, Anteverted nares, Micrognathia, Hepatosplenomegaly, Splenomegal...	OMIM:608013
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Johanson-Blizzard Syndrome	Abnormal nostril morphology, Short nose, Anemia, Delayed eruption of teeth, Absent lacrimal punct...	ORPHA:2315
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Short nose, Micrognathia	OMIM:256600
Cornelia De Lange Syndrome	Proximal placement of thumb, Highly arched eyebrow, Oligodactyly, Joint stiffness, Hip dislocatio...	ORPHA:199
Craniofaciofrontodigital Syndrome	Osteopenia, Cardiomegaly, Abnormal heart valve morphology, Osteoporosis, Aortic valve stenosis, P...	ORPHA:363705
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Anemia, Arthritis, Parotitis, Increased B cell count, Increased T cell c...	OMIM:620376
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion,...	OMIM:261740
Cornelia De Lange Syndrome 6	Short nose, Clinodactyly of the 5th finger, Telecanthus, Highly arched eyebrow, Anteverted nares,...	OMIM:620568
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Short nose, Rocker bottom foot, Hyperextensibility of the finger joints, Postaxial...	ORPHA:521426
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H...	OMIM:610377
Hypohidrotic Ectodermal Dysplasia	Inflammatory abnormality of the eye, Anteverted nares, Eczematoid dermatitis, Sinusitis, Hypoplas...	ORPHA:238468
Robinow Syndrome	Short nose, Anteverted nares, Flared nostrils, Marked delay in eruption of permanent teeth, Persi...	ORPHA:97360
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Limitation of joint mobility	ORPHA:399180
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Bannayan-Riley-Ruvalcaba Syndrome	Short nose, Wide nose, Angina pectoris, Anteverted nares, Abnormal optic nerve morphology, Broad ...	ORPHA:109
Somatomammotropinoma	Macrodactyly, Palpebral edema, Cortical diaphyseal thickening of the upper limbs, Wide nose, Broa...	ORPHA:314769
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Underdeveloped nasal alae, Absent eyelashes, Absent eyebrow, Hypoplasia of the maxill...	OMIM:305100
Cleft Velum	Hypoplasia of the maxilla, Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Metachromatic Leukodystrophy	Abnormal stomach morphology, Hemobilia, Abnormal duodenum morphology, Neoplasm of the gallbladder...	ORPHA:512
Combined Oxidative Phosphorylation Deficiency 25	Short nose, Anteverted nares, Aspiration pneumonia, Syndactyly, Intraventricular hemorrhage, Wide...	OMIM:616430
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short nose, Bilateral choanal atresia, Clinodactyly of the 5th finger, Anteverted nares, Choanal ...	OMIM:619859
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
C Syndrome	Short nose, Clinodactyly of the 5th finger, Joint dislocation, Dislocated radial head, Anteverted...	ORPHA:1308
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Multiple joint dislocation, Upslanted palpebral fissure, Internally rotated...	OMIM:619503
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Aicardi-Goutières Syndrome	Panniculitis, Chronic lymphatic leukemia, Myositis, Arthritis, Neonatal alloimmune thrombocytopen...	ORPHA:51
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis	ORPHA:411536
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Reduced bone mineral density, Generalized lymphadenopathy	OMIM:620232
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Eisenmenger Syndrome	Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Right-to-lef...	ORPHA:97214
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Warburg Micro Syndrome 2	Optic atrophy, Short nose, Clinodactyly of the 5th toe, Clinodactyly of the 4th toe, Prominent na...	OMIM:614225
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Distal Deletion 9P	Short nose, Brachydactyly, Epicanthus, Upslanted palpebral fissure, Wide nasal bridge	ORPHA:1642
Floating-Harbor Syndrome	Long nose, Narrow nasal bridge, Dislocated radial head, Low hanging columella, Short clavicles, S...	ORPHA:2044
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Osteochondrosis, Supernumerary tooth, Retrognathia, Short nose, Polydactyly, Aortic regurgitation...	ORPHA:268261
Ellis-Van Creveld Syndrome	Genu valgum, Delayed eruption of teeth, Hypoplastic iliac wing, Short long bone, Postaxial hand p...	OMIM:225500
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Marfan Syndrome	Limited elbow extension, Retrognathia, Congestive heart failure, Aortic regurgitation, Hammertoe,...	OMIM:154700
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Short nose, Genu valgum, Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, ...	OMIM:619321
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Marfan Syndrome	Osteopenia, Limited elbow movement, Retrognathia, Abnormal zygomatic bone morphology, Reduced bon...	ORPHA:558
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro...	ORPHA:324410
Exudative Vitreoretinopathy 6	Patchy atrophy of the retinal pigment epithelium, Retinal detachment, Tractional retinal detachme...	OMIM:616468
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Short nose, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers,...	OMIM:617527
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cervical lymph...	ORPHA:514
Myasthenia Gravis	Myositis, Rheumatoid arthritis, Pure red cell aplasia, Ptosis, Hashimoto thyroiditis, Raynaud phe...	ORPHA:589
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Hepatomegaly, Neutrophilia, Splenomegaly, Osteolysis	OMIM:612852
Gray Platelet Syndrome	Myelofibrosis, Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
3Q29 Microdeletion Syndrome	Short nose, Clinodactyly of the 5th finger, Pulmonary arterial hypertension, Downslanted palpebra...	ORPHA:65286
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic...	ORPHA:228308
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Ketonuria	OMIM:255120
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, 3-Methylglutaconic aciduria, Cardiomyopathy, Cardiomegaly	OMIM:619259
Multiple Myeloma	Osteopenia, Anemia, Lymphadenopathy, Functional abnormality of the gastrointestinal tract, Spleno...	ORPHA:29073
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Developmental glaucoma, Patent foramen ovale, Osteoporosis, Ge...	OMIM:245600
Primary Biliary Cholangitis	Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Steatorrhea, Hepatocellular car...	ORPHA:186
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Abno...	ORPHA:33226
Cirrhotic Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Conjunctival icterus, Right atrial enlargement, Left ventr...	ORPHA:57777
Sjogren Syndrome	Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca	OMIM:270150
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Cowden Syndrome 1	Angioid streaks of the fundus, Thyroiditis, Decreased circulating antibody level, Hypoplasia of t...	OMIM:158350
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess, Midgut malrotation, Chronic n...	ORPHA:100079
Distal Deletion 19P	Decreased circulating antibody level, Hypoplasia of the maxilla, Arachnodactyly, Thick eyebrow, J...	ORPHA:96129
Wiskott-Aldrich Syndrome	Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Recurrent otitis media, Autoimmune...	OMIM:301000
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ...	ORPHA:449432
Geleophysic Dysplasia 2	Short nose, Limitation of joint mobility, Tricuspid stenosis, Pulmonary arterial hypertension, Sh...	OMIM:614185
Aplasia Cutis-Myopia Syndrome	Meningitis	ORPHA:1117
Pseudo-Torch Syndrome 3	Cardiomegaly, Acute kidney injury, Proteinuria	OMIM:618886
Cadds	Short nose, Micrognathia, Cholangitis	ORPHA:369942
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Narrow nasal base, Wide nose, Cleft ala nasi, Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:3044
Dysbetalipoproteinemia	Angina pectoris, Xanthelasma, Acute pancreatitis, Gout	ORPHA:412
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid arthritis, Inflammatory abnormality of the skin	ORPHA:79099
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Short nose, Abnormal ilium morphology, Anteverted nares, Micrognathia, Epicanthus, Short distal p...	OMIM:614080
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets, Renal artery stenosis	OMIM:208000
Systemic Lupus Erythematosus	Cheilitis, Malar rash, Arthritis, Discoid lupus rash, Hypertension, Retinopathy, Leukopenia, Rayn...	ORPHA:536
Primary Sclerosing Cholangitis	Adenocarcinoma of the large intestine, Cholestasis, Ascites, Splenomegaly, Jaundice, Hepatocellul...	ORPHA:171
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Telecanthus, Split hand, Choanal atresia, Depressed nasal tip, Hypoplasia of the maxilla, Carious...	OMIM:129900
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Flared metaphysis, Increased bone mineral density, Anteverted nares, Coarse metaphyseal trabecula...	OMIM:620558
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Short nose, Telecanthus, Sandal gap, Optic nerve hypoplasia, Mandibular prognathia, Prominent nas...	OMIM:620330
Lymphoid Interstitial Pneumonia	Skin rash, Clubbing, Eczematoid dermatitis, Rheumatoid arthritis, Raynaud phenomenon, Bronchiecta...	ORPHA:79128
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at...	OMIM:620642
Ileal Neuroendocrine Tumor	Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Intestinal fistula, Zollinger...	ORPHA:100078
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Short long bone, Femoral bowing, Acetabular spurs, Postaxial polydactyly, S...	OMIM:615503
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Hematochezia, Splenomegaly...	OMIM:620565
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Short nose, Prominent nasal tip, 2-3 toe syndactyly, Almond-shaped palpebral fissure, Horizontal ...	ORPHA:522077
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Reduced bone mineral density, Anemia, Pancytopenia, Portal hypertension, Joi...	OMIM:613658
Hennekam Syndrome	Lymphadenopathy, Ascites, Pyloric stenosis, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasi...	ORPHA:2136
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing...	OMIM:613091
Wilson Disease	Anemia, Joint hypermobility, Hyposmia, Osteoporosis, Atypical or prolonged hepatitis, Thrombocyto...	OMIM:277900
Lethal Congenital Contracture Syndrome 10	Adducted thumb, Stiff neck, Femoral bowing, Short long bone, Hypoplasia of the thymus, Downslante...	OMIM:617022
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Split hand, Choanal atresia, Ectrodactyly, Depressed nasal tip, Hypoplasia of the maxilla, Cariou...	OMIM:604292
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Myelofibrosis, Leukocytosis, Portal hy...	ORPHA:729
Williams Syndrome	Chronic otitis media, Hypertension, Cerebral ischemia, Pulmonic stenosis, Joint stiffness, Joint ...	ORPHA:904
Aicardi Syndrome	Optic atrophy, Retinal detachment, Sparse lateral eyebrow, Abnormality of retinal pigmentation, B...	ORPHA:50
Achalasia, Familial Esophageal	Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:200400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Long palpebral fissure, Shortening of all distal phalanges of the fingers, Broad nasa...	OMIM:614207
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
Williams-Beuren Syndrome	Hypertension, Pulmonic stenosis, Joint hypermobility, Medial flaring of the eyebrow, Anteverted n...	OMIM:194050
Cryptococcosis	Prostatitis, Lymphoid leukemia, Neoplasm, Peritonitis, Systemic lupus erythematosus, Pneumonia, A...	ORPHA:1546
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Short nose, Proportionate shortening of all digits, Flexion contracture of toe, Anteverted nares,...	ORPHA:280633
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Dermatomyositis	Myocarditis, Myocardial infarction, Myositis, Arthritis, Vasculitis, Sinus tachycardia, Abnormal ...	ORPHA:221
Igg4-Related Kidney Disease	Prostatitis, Pancreatitis, Sclerosing cholangitis, Arteritis, Thyroiditis, Meningitis, Lymphadeni...	ORPHA:449395
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Radial deviation of finger, Cubitus valgus, Amegakaryocytic thr...	OMIM:163950
Malakoplakia	Prostate neoplasm, Neoplasm of the rectum, Neoplasm of the colon, Orchitis, Follicular hyperplasia	ORPHA:556
Plague	Hematemesis, Carbuncle, Tachycardia, Inflammatory abnormality of the eye, Arthritis, Acute infect...	ORPHA:707
Cerebrofaciothoracic Dysplasia	Short nose, Wide nose, Synophrys, Downslanted palpebral fissures, Thick eyebrow, Epicanthus	ORPHA:1394
Cowden Syndrome 5	Hypoplasia of the maxilla, Thyroiditis, Micrognathia, Angioid streaks of the fundus	OMIM:615108
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Aplasia of the epiglottis, Short clavicles, Short long bone, Postaxial hand ...	OMIM:617088
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Palpebral edema, Heart murmur, Joint hypermobility, Aortic regurgitation, Tapered distal phalange...	OMIM:619475
Van Esch-O'Driscoll Syndrome	Retrognathia, Short nose, Short palpebral fissure, Clinodactyly of the 5th finger, Spina bifida o...	OMIM:301030
Thymoma	Aplastic anemia, Myositis, Decreased circulating antibody level, Rheumatoid arthritis, Pure red c...	ORPHA:99867
1P36 Deletion Syndrome	Optic atrophy, Clinodactyly of the 5th finger, Delayed cranial suture closure, Ocular albinism, S...	ORPHA:1606
Specc1L-Related Hypertelorism Syndrome	Short nose, Advanced eruption of teeth, Clinodactyly of the 5th finger, Highly arched eyebrow, Fi...	ORPHA:1519
Holoprosencephaly 7	Short nose, Midline defect of the nose, Hypoplastic nasal septum, Depressed nasal tip, Flat nasal...	OMIM:610828
Histiocytoid Cardiomyopathy	Optic atrophy, Hepatomegaly, Corneal opacity, Congenital aphakia, Renal cyst, Megalocornea, Cardi...	ORPHA:137675
Congenital Tracheal Stenosis	Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ...	ORPHA:141127
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Neuroendocrine Tumor Of The Colon	Melena, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Cowden Syndrome 6	Hypoplasia of the maxilla, Thyroiditis, Micrognathia, Angioid streaks of the fundus	OMIM:615109
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Pustule, Increased circulating antibody level	ORPHA:48377
Kleefstra Syndrome Due To 9Q34 Microdeletion	Short nose, Aortic regurgitation, Highly arched eyebrow, Anteverted nares, Synophrys, Aortic valv...	ORPHA:96147
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Hereditary Sensory And Autonomic Neuropathy Type 4	Neuropathic arthropathy, Anemia, Abnormal hip bone morphology, Syncope, Abnormality of the ankle,...	ORPHA:642
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis	OMIM:615947
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Broad thumb, Polydactyly affecting the 3rd finger, Overlappi...	ORPHA:672
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Osteoporosis, Hypertrophic cardiomyopathy	ORPHA:1517
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Gastroesophageal reflux, Hilar lymph node enlargement,...	OMIM:620233
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Gaisböck Syndrome	Increased hematocrit, Elevated diastolic blood pressure, Elevated plasma cell count, Increased re...	ORPHA:90041
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenome...	ORPHA:731
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Anemia, Hypertension, Hypotension, Gout, Tubulointerstitial nephritis	OMIM:174000
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Bowed humerus, Short long bone, Short humerus, Flexion contracture, Trident pelvis, Brachydactyly...	OMIM:619479
Aicardi Syndrome	Optic atrophy, Proximal placement of thumb, Retinal detachment, Anteverted nares, Sparse lateral ...	OMIM:304050
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi...	ORPHA:100085
Sepsis In Premature Infants	Bradycardia, Hypotension, Invasive fungal infection, Severe infection, Enterocolitis, Tachycardia...	ORPHA:90051
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Idiopathic Camptocormia	Myelitis, Myositis, Osteoarthritis, Abnormal inflammatory response	ORPHA:1320
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy	OMIM:105210
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Highly arched eyebrow, Anteverted nares, Pulmonary arterial hypertension, Ptosis, Mic...	ORPHA:2282
Microlissencephaly-Micromelia Syndrome	Short nose, Palpebral edema, Adducted thumb	ORPHA:50810
Genitourinary And/Or Brain Malformation Syndrome	Short nose, Short palpebral fissure, Joint stiffness, Aplasia of the nasal bone, Micrognathia, Pt...	OMIM:618820
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ...	OMIM:106210
Neuroendocrine Tumor Of The Rectum	Melena, Hepatomegaly, Hematochezia, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Melena, Hepatomegaly, Hematochezia, Chronic noninfectious lymphadenopathy	ORPHA:100082
Mogs-Cdg	Optic atrophy, Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atri...	ORPHA:79330
Porphyria, Congenital Erythropoietic	Osteopenia, Jaundice, Hepatomegaly, Cholelithiasis, Increased fecal coproporphyrin 1, Thrombocyto...	OMIM:263700
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia	OMIM:266810
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Reti...	OMIM:612109
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 ratio, Necrotizing enteroc...	OMIM:619573
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
1P21.3 Microdeletion Syndrome	Short nose, Micrognathia, Broad nasal tip, Joint hypermobility, Upslanted palpebral fissure	ORPHA:293948
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Medulloblastoma	Delayed cranial suture closure, Cerebellar hemorrhage	ORPHA:616
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Accessory spleen, Anal atresia, Clitoral hypoplasia, Pyloric stenosis, Elevat...	OMIM:618419
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Joint hypermobility, Arthritis, Mandibular prognathia	ORPHA:93111
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Hydronephrosis, Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect	OMIM:614921
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Insulin-Resistance Syndrome Type B	Increased circulating IgG level, Skin rash, Increased circulating IgA level, Nephritis, Thrombocy...	ORPHA:2298
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na...	OMIM:600376
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Angelman Syndrome	Hypoplasia of the maxilla, Mandibular prognathia	OMIM:105830
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Short nose, Short finger, Clinodactyly of the 5th finger, Telecanthus, Anteverted nare...	OMIM:619522
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Pallister-Killian Syndrome	Aortic valve stenosis, Hip dislocation, Anteverted nares, Postaxial hand polydactyly, Sparse eyel...	OMIM:601803
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal bone ossification, Osteopenia	ORPHA:2463
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Rectal prolapse, Gastroesophageal reflux, Accessory spleen, Hypoplasia of the thymus,...	OMIM:613177
Atelis Syndrome 2	Pulmonic stenosis, Supravalvar pulmonary stenosis, Developmental cataract, Remnants of the hyaloi...	OMIM:620185
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Sinusitis, Intrauterine growth retardation, Chronic oral ...	ORPHA:2968
Adenohypophysitis	Hashimoto thyroiditis, Antinuclear antibody positivity, Chronic lymphocytic meningitis, Orthostat...	ORPHA:95512
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the eyebrow, Joint dislocation, Narrow nasal bridge, Telecanthus, Periodont...	ORPHA:286
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch...	ORPHA:308552
Autosomal Dominant Dopa-Responsive Dystonia	Rheumatoid arthritis, Paresis of extensor muscles of the big toe, Hypertension, Progressive flexi...	ORPHA:98808
Microform Holoprosencephaly	Short nose, Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis	ORPHA:280200
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Pneumonia, Pancreatitis, Acute colitis, Hypertension, Leukocytosis, Hypertensive cri...	ORPHA:544482
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Reduced bone miner...	ORPHA:47159
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Hepatomegaly, Microcolon, Splenomegaly, Hypogonadism, Ileus	ORPHA:163746
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Anemia, Hypophosphatemic rickets, Gastrointestinal hemorrhage, Melena, E...	OMIM:276700
Neuroendocrine Tumor Of Stomach	Hematemesis, Hepatomegaly, Melena, Iron deficiency anemia, Chronic noninfectious lymphadenopathy,...	ORPHA:100075
Chédiak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor...	ORPHA:167
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Lymphadenopathy, Abnormality of the lymphatic system, Ascites, Pulmo...	ORPHA:538
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Abnormality of...	ORPHA:449563
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Cutis Laxa, Autosomal Recessive, Type Ib	Retrognathia, Pulmonary insufficiency, Bradycardia, Bowing of the long bones, Pulmonary arterial ...	OMIM:614437
Acute Transverse Myelitis	Orthostatic hypotension, Invasive parasitic infection, Hypertension, Severe viral infection, Suba...	ORPHA:139417
Panhypophysitis	Hashimoto thyroiditis, Antinuclear antibody positivity, Chronic lymphocytic meningitis, Orthostat...	ORPHA:95513
Gitelman Syndrome	Prolonged QT interval, Iron deficiency anemia, Prominent U wave, Tubulointerstitial nephritis, Go...	ORPHA:358
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Hydranencephaly	Postnatal growth retardation, Dilatation of the ventricular cavity, Intrauterine growth retardati...	ORPHA:2177
Esophageal Atresia	Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Abnormal ...	ORPHA:1199
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr...	OMIM:130650
Microphthalmia, Syndromic 2	Hypospadias, Dextrocardia, Retinal detachment, Microcornea, Remnants of the hyaloid vascular syst...	OMIM:300166
Branchiooculofacial Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Short nasal septum, Telecanthus, Elb...	OMIM:113620
Neuroblastoma	Thrombocytopenia, Anemia, Lymphadenopathy, Abdominal mass	ORPHA:635
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Glycogen Storage Disease Due To Acid Maltase Deficiency	Fatigable weakness of respiratory muscles, Hepatomegaly, Hypertrophic cardiomyopathy, Osteoporosi...	ORPHA:365
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Right ventricular hypertrophy	ORPHA:268
Fucosidosis	Hepatomegaly, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosacchariduria, Tortuosity of conj...	OMIM:230000
Sarcoidosis	Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatomegaly, Anemia, Lymphadenop...	ORPHA:797
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Abetalipoproteinemia	Osteopenia, Hepatomegaly, Corneal ulceration, Abnormality of retinal pigmentation, Cardiomegaly, ...	ORPHA:14
Leptospirosis	Optic neuritis, Skin rash, Meningitis, Hypotension, Retinal hemorrhage, Pericarditis, Subconjunct...	ORPHA:509
Sheehan Syndrome	Orthostatic hypotension, Bradycardia, Hashimoto thyroiditis, Antinuclear antibody positivity, Pal...	ORPHA:91355
Cherubism	Narrow palate, Submandibular lymph node enlargement	OMIM:118400
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Reduced bone mineral density, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly,...	ORPHA:667
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan...	OMIM:187300
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation	ORPHA:369847
Lipodystrophy, Familial Partial, Type 7	Short nose, Large fontanelles, Orthostatic hypotension, Narrow nasal ridge, Hypertension, Pulmona...	OMIM:606721
17Q11 Microdeletion Syndrome	Osteopenia, Diaphyseal dysplasia, Abnormality of the sphenoid sinus, Retinal vascular proliferati...	ORPHA:97685
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat...	ORPHA:31150
Progressive Multifocal Leukoencephalopathy	Meningitis, Hematological neoplasm	ORPHA:217260
Igg4-Related Retroperitoneal Fibrosis	Large vessel vasculitis, Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Hyp...	ORPHA:49041
Crimean-Congo Hemorrhagic Fever	Hematemesis, Jaundice, Hepatomegaly, Lymphadenopathy, Melena, Pancytopenia, Parotitis, Acute panc...	ORPHA:99827
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Steatorrhea, Cholestasis, Biliary cirrhosis,...	OMIM:613471
Angiostrongyliasis	Meningitis, Unusual CNS infection	ORPHA:74
Choreoacanthocytosis	Arthritis, Abnormal erythrocyte enzyme concentration or activity, Blepharospasm, Temporomandibula...	ORPHA:2388
Glycogen Storage Disease Ii	Cardiomegaly, Urinary incontinence, Splenomegaly, Hepatomegaly	OMIM:232300
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Chronic Graft Versus Host Disease	Keratoconjunctivitis sicca, Pancytopenia, Arthritis, Flexion contracture, Bronchiectasis, Fasciit...	ORPHA:99921
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the stomach, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eos...	ORPHA:99889
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly	OMIM:618143
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Hepatomegaly, Recurrent infection of the gastrointestinal tract, Spl...	OMIM:612132
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the...	ORPHA:79078
Bohring-Opitz Syndrome	Optic atrophy, Retinal atrophy, Cardiomegaly, Urinary retention, Abnormal cardiac septum morphology	ORPHA:97297
Knobloch Syndrome	Pyloric stenosis, Lymphangioma	ORPHA:1571
Peters Plus Syndrome	Optic atrophy, Short nose, Short palpebral fissure, Clinodactyly of the 5th finger, Spina bifida ...	ORPHA:709
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Opacification of the corneal stroma	ORPHA:79280
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Cervical neoplasm, Ganglioneuromatosis, Abnormal tongue morphology, Pheoch...	ORPHA:653
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Retinal detachment, Patent foramen ovale, Retinal hemorrhage, Cardiomegaly, Iris coloboma	OMIM:620371
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Arachnoiditis	Meningitis	ORPHA:137817
Tick-Borne Encephalitis	Meningitis, Abnormal myocardium morphology, Myelitis, Unusual CNS infection	ORPHA:297
Peroxisome Biogenesis Disorder 4B	Optic atrophy, Short nose, Rod-cone dystrophy, Retinal dystrophy	OMIM:614863
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Neuroocular Syndrome	Microcornea, Stellate iris, Patent foramen ovale, Remnants of the hyaloid vascular system, Lens c...	OMIM:619539
Trichinellosis	Skin rash, Meningitis, Retinal hemorrhage, Conjunctivitis	ORPHA:863
Ramon Syndrome	Delayed eruption of teeth, Pigmentary retinopathy, Juvenile rheumatoid arthritis, Optic disc pall...	OMIM:266270
Norrie Disease	Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t...	ORPHA:649
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni...	ORPHA:3384
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Lymphadenopathy, Parotitis, Thrombocytopenia, Splenomegaly, Epididymitis, Cardiomeg...	OMIM:256040
Craniofacial Microsomia 1	Genu valgum, Upper eyelid coloboma, Maxillozygomatic hypoplasia, Hypoplasia of the maxilla, Ptosi...	OMIM:164210
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic...	ORPHA:116
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ...	ORPHA:1677
Full Nf2-Related Schwannomatosis	Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system	ORPHA:637
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R...	OMIM:300967
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Osteomalacia, Ventricular hypertrophy, Medullary nephrocalcinosis, Abno...	ORPHA:51608
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose	OMIM:252160
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly	OMIM:618278
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose	OMIM:252150
Junctional Epidermolysis Bullosa With Pyloric Atresia	Intestinal atresia, Congenital pyloric atresia	ORPHA:79403
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Renal Cysts And Diabetes Syndrome	Gout	OMIM:137920
Ulnar-Mammary Syndrome	Breast hypoplasia, Anal stenosis, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperforate...	OMIM:181450
Viss Syndrome	Atrial septal defect, Epidural hemorrhage, Patent ductus arteriosus, Exostosis of the external au...	OMIM:619472
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Ventricular septal defect, Hepatomegaly	ORPHA:96191
Pituitary Dermoid And Epidermoid Cysts	Neoplasm of the anterior pituitary, Meningitis	ORPHA:91351
Liver Disease, Severe Congenital	Left atrial enlargement, Hepatomegaly, Hypospadias, Patent foramen ovale, Alpha-aminobutyric acid...	OMIM:619991
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re...	ORPHA:75565
Epidermolysis Bullosa Simplex With Pyloric Atresia	Congenital pyloric atresia	ORPHA:158684
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:180500
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Remnants of the hyaloid vascular system	OMIM:603671
African Trypanosomiasis	Jaundice, Hepatomegaly, Lymphadenopathy, Abnormal prolactin level, Hepatosplenomegaly, Splenomegaly	ORPHA:3385
Holoprosencephaly 2	Single ventricle, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Sacral Defect With Anterior Meningocele	Sacral lipoma, Meningitis	OMIM:600145
Penile Agenesis	Short nose, Depressed nasal bridge	ORPHA:49

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Tooth - MPATH pathological process term developmental dysplasia	Mmp2^em1(IMPC)Mbp	HOM		Late adult

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 Mmp2.

No publications found that use IMPC mice or data for Mmp2.

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MGI Allele	Allele Type	Produced
Mmp2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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: Mmp2 MGI:97009

Gene Summary

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lacZ Expression

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Human diseases caused by Mmp2 mutations

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