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Gene: Tnfrsf11b MGI:109587

Gene Summary

Name:

tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)

Synonyms:

TR1, osteoclastogenesis inhibitory factor, OCIF, Opg, OPG

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
decreased locomotor activity	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	3.94×10^-07
small spleen	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased bone mineral content	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	3.77×10^-17
anophthalmia	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
corneal opacity	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	5.04×10^-07
preweaning lethality, incomplete penetrance	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal auditory brainstem response	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	1.38×10^-05
decreased prepulse inhibition	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	8.30×10^-05
abnormal brain morphology	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating phosphate level	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	1.15×10^-11
blind uterus	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased brain size	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased body length	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	2.05×10^-15
increased circulating alkaline phosphatase level	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal bone structure	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	2.81×10^-14
abnormal eye morphology	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased bone mineral density	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	4.12×10^-14
decreased grip strength	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	7.14×10^-05
abnormal vitreous body morphology	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	6.09×10^-05
abnormal gait	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	8.73×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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Human diseases caused by Tnfrsf11b 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 Tnfrsf11b (3 diseases)
Human diseases predicted to be associated with Tnfrsf11b (1310 diseases)

The table below shows human diseases associated to Tnfrsf11b by orthology or direct annotation.

Disease	Matching phenotypes	Source
Juvenile Paget Disease	Optic atrophy, Cranial hyperostosis, Bowing of the long bones, Osteoporosis, Hearing impairment, ...	ORPHA:2801
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased bone mineral density, Inc...	OMIM:239000
Familial Calcium Pyrophosphate Deposition	Arthritis, Calcification of cartilage, Limitation of joint mobility, Osteoarthritis	ORPHA:1416

The table below shows human diseases predicted to be associated to Tnfrsf11b by phenotypic similarity.

Disease	Matching phenotypes	Source
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Otosclerosis 7	Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A...	OMIM:611572
Otosclerosis 11	Otosclerosis, Sensorineural hearing impairment, Absence of acoustic reflex, Conductive hearing im...	OMIM:620576
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials...	OMIM:609129
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali...	OMIM:128980
Otosclerosis 8	Hearing impairment, Otosclerosis	OMIM:612096
Otosclerosis 3	Hearing impairment, Otosclerosis	OMIM:608244
Calcification Of Joints And Arteries	Iliac arterial calcification, Femoral arterial calcification, Intervertebral disk calcification, ...	OMIM:211800
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Hearing impairment, Osteoporosis, Osteopenia	OMIM:615269
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Abnormal pinna morphology, Fac...	ORPHA:3232
Deafness, X-Linked 2	Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm...	OMIM:304400
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis	OMIM:608805
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses	OMIM:601071
Mazabraud Syndrome	Fibrous dysplasia of the bones, Bone pain, Recurrent fractures	ORPHA:57782
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteomyelitis, R...	ORPHA:53697
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t...	ORPHA:1802
Otosclerosis 1	Otosclerosis, Conductive hearing impairment	OMIM:166800
Osteochondrosis Of The Metatarsal Bone	Osteochondrosis, Avascular necrosis, Flattened metatarsal heads, Abnormality of the third metatar...	ORPHA:564003
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Deafness-Hypogonadism Syndrome	Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma...	ORPHA:90646
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Multiple Synostoses Syndrome 4	Otosclerosis, Tarsal synostosis	OMIM:617898
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hearing impairment, Osteoporosis, Osteopenia	OMIM:615271
Osteoporosis	Osteoporosis	OMIM:166710
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Otosclerosis, Hearing impairment, Bowing of limbs due to multiple f...	OMIM:166220
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste...	ORPHA:1879
Forsythe-Wakeling Syndrome	Low-set ears, Osteoporosis, Growth delay, Delayed skeletal maturation, Macrotia, Short stature, T...	OMIM:613606
Deafness, Autosomal Recessive 104	Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit...	OMIM:616515
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Extensor Tendons Of Finger Anomalies	Camptodactyly of finger, Limitation of joint mobility, Osteoporosis	ORPHA:3294
Hyperostosis Corticalis Generalisata	Diaphyseal undertubulation, Cranial hyperostosis, Abnormal cortical bone morphology, Generalized ...	ORPHA:3416
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Hearing impairment, Joint hypermobility, Finger joint hypermobility, Re...	OMIM:166200
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Broad thumb, Conductive he...	OMIM:184460
Deafness, Autosomal Dominant 75	Sensorineural hearing impairment, Abnormal cochlea morphology	OMIM:618778
Symphalangism, Proximal, 1A	Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Conductive hea...	OMIM:185800
Deafness, Autosomal Dominant 44	Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti...	OMIM:607453
Deafness, Autosomal Dominant 86	Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti...	OMIM:620280
Deafness, Autosomal Dominant 87	Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II	OMIM:620281
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Conductive Deafness-Malformed External Ear Syndrome	Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm...	ORPHA:3216
Sclerosteosis	Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Finger ...	ORPHA:3152
Gnathodiaphyseal Dysplasia	Diaphyseal cortical sclerosis, Osteopenia, Bowing of the long bones, Osteomyelitis, Increased sus...	OMIM:166260
Eiken Syndrome	Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Epiphyseal dyspl...	ORPHA:79106
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Short distal phalanx of finger, Joint hypermobility, Osteoporosis, Brachydactyly	ORPHA:2787
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Monosomy 5P	Low-set, posteriorly rotated ears, Finger syndactyly, Abnormality of bone mineral density, Intrau...	ORPHA:281
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Otosclerosis 10	Otosclerosis	OMIM:615589
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim...	OMIM:600785
Familial Expansile Osteolysis	Bone pain, Bowing of the long bones, Conductive hearing impairment, Osteolysis, Pathologic fractu...	OMIM:174810
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Wide humerus, Osteoporosis, Epiphyseal dysplasia, Delaye...	ORPHA:319195
Pyle Disease	Limited elbow extension, Genu valgum, Reduced bone mineral density, Delayed eruption of teeth, Ma...	OMIM:265900
Winchester Syndrome	Osteolysis involving tarsal bones, Broad metacarpals, Generalized osteoporosis, Carpal osteolysis	OMIM:277950
Congenital Disorder Of Glycosylation, Type Iik	Diaphyseal dysplasia, Low-set ears, Osteoporosis, Epiphyseal dysplasia, Short stature, Growth del...	OMIM:614727
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ...	OMIM:616452
Deafness, Autosomal Dominant 77	Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus	OMIM:618915
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Postnatal growth retardation, 2-3 toe syndactyly, Low-set ears, Delayed skeletal matu...	ORPHA:2324
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay	Osteopenia, Recurrent fractures	OMIM:619884
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Decr...	OMIM:619924
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Clubbing of fingers, Increased circulating IgG level, Increased circulating IgE level, Increased ...	OMIM:618982
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab...	ORPHA:970
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Hearing impairment, Osteoporosis, Osteopenia	OMIM:615267
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo...	ORPHA:3344
Rothmund-Thomson Syndrome, Type 1	Short stature, Delayed skeletal maturation, Recurrent otitis media, Osteoporosis	OMIM:618625
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Sensorineural hearing impairment, Femoral bowing, Short stature, Recurrent fractures,...	OMIM:615066
Hyaline Fibromatosis Syndrome	Osteopenia, Low-set ears, Osteoporosis, Flexion contracture, Progressive flexion contractures, Os...	OMIM:228600
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Periarticular calcification, Renal artery stenosis, Generalized arteria...	OMIM:208000
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin...	ORPHA:166277
Calciphylaxis	Arterial calcification, Ectopic ossification	ORPHA:280062
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteogenesis Imperfecta, Type Xxii	Reduced bone mineral density, Slender long bone, Bowing of the long bones, Hearing impairment, Mu...	OMIM:619795
Coronary Artery Disease, Autosomal Dominant 2	Premature coronary artery atherosclerosis, Osteoporosis, Gout	OMIM:610947
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Genu valgum, Reduced bone mineral density, Broad femoral head, Shallow acetabular fos...	OMIM:620639
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal metaphysis morphology, Reduced bone mineral density, Bowing of the long bones, Delayed s...	ORPHA:2501
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti...	OMIM:618013
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Abnormal limb bo...	ORPHA:2204
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone ...	OMIM:607634
Intermediate Osteopetrosis	Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Erlenmeyer ...	ORPHA:210110
Osteopenia And Sparse Hair	Osteopenia, Joint hypermobility	OMIM:259690
Hypophosphatasia, Adult	Rickets, Pathologic fracture, Osteomalacia, Recurrent fractures, Chondrocalcinosis, Increased sus...	OMIM:146300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616911
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d...	OMIM:166740
Hypergonadotropic Hypogonadism-Cataract Syndrome	Delayed skeletal maturation, Reduced bone mineral density, Recurrent fractures, Osteoporosis	ORPHA:2410
Flynn-Aird Syndrome	Increased bone mineral density, Progressive sensorineural hearing impairment, Osteoporosis, Joint...	OMIM:136300
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Hearing impairment, Multiple prenatal fractures, Severe short stature, Jo...	OMIM:301014
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Osteoporosis, Finger clinodactyly, Low-set ears, Coxa valga	ORPHA:2958
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, De...	OMIM:617974
Prieto Syndrome	Radial deviation of finger, Low-set ears, Osteoporosis, Clinodactyly, Coxa valga	OMIM:309610
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating...	ORPHA:98813
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Aplasi...	ORPHA:3409
Juvenile Paget Disease	Optic atrophy, Cranial hyperostosis, Bowing of the long bones, Osteoporosis, Hearing impairment, ...	ORPHA:2801
Gorham-Stout Disease	Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Abnormality of the internal au...	ORPHA:73
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho...	OMIM:186500
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Mixed hearing impairment, Femoral bowing, Osteoporosis, Severe short stature, Recurre...	OMIM:126550
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ...	ORPHA:83468
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Bone pain, Recurrent fractures, Increased spinal bone density	ORPHA:329475
Albers-Schönberg Osteopetrosis	Abnormal metaphysis morphology, Optic atrophy, Genu valgum, Anemia, Abnormal metacarpal morpholog...	ORPHA:53
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Osteopenia, Bone cyst, Pathologic fracture, Basal ganglia calcification	OMIM:618193
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Short stature, Sensorineural hearing impairment, Cone-shaped epiphysis, Osteoporosis	ORPHA:71267
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Congenital bilateral hip dislocation, Premature osteoarthritis, Contracture of the pr...	OMIM:130060
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Bruck Syndrome 1	Ankle flexion contracture, Hearing abnormality, Elbow flexion contracture, Osteoporosis, Coxa var...	OMIM:259450
Arterial Calcification, Generalized, Of Infancy, 2	Arterial calcification, Hypophosphatemic rickets, Coronary artery calcification	OMIM:614473
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count	OMIM:613495
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Hypermobility of interphalangeal joints, Bowing of the l...	OMIM:613849
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Caffey Disease	Increased circulating antibody level, Calvarial hyperostosis, Cortical irregularity, Periosteal t...	ORPHA:1310
Deafness, X-Linked 5, With Peripheral Neuropathy	Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,...	OMIM:300614
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hearing impairment, Osteopenia	OMIM:615266
Cranio-Osteoarthropathy	Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Deviation of finger, Joi...	ORPHA:1525
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormality of bone mineral density, Coxa vara, Broad femoral neck, A...	ORPHA:2114
Osteogenesis Imperfecta, Type V	Osteopenia, Anterior radial head dislocation, Hyperextensibility of the finger joints, Hyperexten...	OMIM:610967
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology...	ORPHA:2635
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Delayed ossification of carpal bones, Short stature, Macrotia, Post...	OMIM:618392
Familial Hyperprolactinemia	Osteopenia, Osteoporosis	ORPHA:397685
Isolated Glycerol Kinase Deficiency	Osteoporosis	ORPHA:408
Caffey Disease	Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Periosteal thickening of lon...	OMIM:114000
Autoimmune Lymphoproliferative Syndrome, Type Iii	Decreased circulating complement C3 concentration, Autoimmune hemolytic anemia, Absent isohemaggl...	OMIM:615559
Charcot-Marie-Tooth Disease, Type 4B1	Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials	OMIM:601382
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb bone ...	ORPHA:2788
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel...	OMIM:166600
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Progressive Pseudorheumatoid Dysplasia	Enlarged metacarpophalangeal joints, Enlarged interphalangeal joints, Enlarged epiphyses, Osteopo...	OMIM:208230
Atresia Of External Auditory Canal And Conductive Deafness	Atresia of the external auditory canal, Stenosis of the external auditory canal, Conductive heari...	OMIM:108760
Warburg Micro Syndrome 1	Optic atrophy, Low-set ears, Osteoporosis, Short stature, Macrotia, Joint hypermobility, Overlapp...	OMIM:600118
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Low...	ORPHA:2370
Hereditary Arterial And Articular Multiple Calcification Syndrome	Abnormal vascular morphology, Arterial calcification, Coronary artery calcification, Arterial tor...	ORPHA:289601
Mycetoma	Abnormal appendicular skeleton morphology, Bone cyst, Abnormal bone structure, Osteoporosis, Pain...	ORPHA:2583
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Metaphyseal chondrodysplasia, Lymphopenia	OMIM:200900
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Idiopathic Juvenile Osteoporosis	Bone pain, Recurrent fractures, Osteoporosis	ORPHA:85193
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of...	ORPHA:1486
Variant Abeta2M Amyloidosis	Abnormal vascular morphology, Arthralgia of the hip, Multiple bony cystic lesions, Knee pain, Car...	ORPHA:314652
Optic Atrophy 8	Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,...	OMIM:616648
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Delayed epiphyseal ossification, Bone pain, Tibial bowing, Femoral bowin...	OMIM:600081
Chromosome Xq21 Deletion Syndrome	Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ...	OMIM:303110
Mu-Heavy Chain Disease	Anemia, Osteoporosis, Splenomegaly, Abnormal B cell count, Osteolysis	ORPHA:100024
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A...	OMIM:613493
Grant Syndrome	Abnormal cortical bone morphology, Decreased skull ossification, Abnormal pelvic girdle bone morp...	ORPHA:2097
Osteogenesis Imperfecta, Type Iii	Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender long bone, ...	OMIM:259420
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Hypocalcemia, Increased bone mineral density, Calcium nephrolithiasis, Hyp...	ORPHA:36913
Neutropenia, Chronic Familial	Clubbing, Neutropenia, Increased circulating antibody level, Clubbing of fingers	OMIM:162700
Immunodeficiency 18	Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin...	OMIM:615615
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Low-set ears, Coxa vara, Short stature, Synda...	OMIM:614701
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Microtia, Osteoporosis, Camptodactyly, Hearing impairment, Growth delay, Syndactyly	OMIM:616006
Rhyns Syndrome	Osteopenia, Sensorineural hearing impairment, Short long bone, Osteoporosis, Short stature, Condu...	OMIM:602152
Paget Disease Of Bone 2, Early-Onset	Bone pain, Osteosclerosis of the ulna, Femoral bowing, Bilateral conductive hearing impairment, B...	OMIM:602080
Dysplasia Epiphysealis Hemimelica	Tarsal synostosis, Irregular epiphyses, Abnormal femur morphology, Genu valgum, Bone pain, Abnorm...	ORPHA:1822
Sanjad-Sakati Syndrome	Astigmatism, Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypocalcemia, Abnormal pinna...	ORPHA:2323
Pseudohypoparathyroidism Type 1B	Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration, Diaphyseal sclerosi...	ORPHA:94089
Opticocochleodentate Degeneration	Hearing impairment, Optic atrophy, Cochlear degeneration	OMIM:258700
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Decreased calvarial ossification, Stillbirth, Multiple prenatal fractures, Bowing of limbs due to...	OMIM:259410
Ck Syndrome	Retrognathia, Abnormal cortical bone morphology, Abnormal digit morphology, Micrognathia, Malar f...	OMIM:300831
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased bone mineral density, Inc...	OMIM:239000
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Bone pain, Ti...	OMIM:300554
Autosomal Recessive Spastic Paraplegia Type 44	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok...	ORPHA:320401
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis	ORPHA:2786
Tenosynovial Giant Cell Tumor	Localized osteoporosis, Abnormal shoulder morphology, Abnormal auditory canal morphology, Limitat...	ORPHA:66627
Osteogenesis Imperfecta, Type Xiii	Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral metaphysis, Disloc...	OMIM:614856
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Perrault Syndrome 1	Short stature, Sensorineural hearing impairment, Osteoporosis	OMIM:233400
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Angulated humerus, Short long bone, Bowing of the long bones, Hearing imp...	OMIM:616229
Marshall-Smith Syndrome	Optic atrophy, Reduced bone mineral density, Slender long bone, Bowing of the long bones, Conduct...	ORPHA:561
Coxoauricular Syndrome	Abnormal femur morphology, Reduced bone mineral density, Microtia, Abnormal pelvic girdle bone mo...	ORPHA:1508
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Difficulty walking, Recurrent ...	ORPHA:99845
Bruck Syndrome	Bowing of the long bones, Osteoporosis, Joint stiffness, Arthrogryposis multiplex congenita, Recu...	ORPHA:2771
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
17Q24.2 Microdeletion Syndrome	Otosclerosis, Microtia, Recurrent otitis media, Progressive conductive hearing impairment	ORPHA:529962
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Disproportionate short-limb short stature, Intrauterine growth...	ORPHA:2772
Bruck Syndrome 2	Osteopenia, Femoral bowing, Elbow flexion contracture, Flexion contracture, Knee flexion contract...	OMIM:609220
Xq21 Microdeletion Syndrome	Optic atrophy, Postnatal growth retardation, Sensorineural hearing impairment, Abnormal cochlea m...	ORPHA:1435
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint hypermobility, Osteoporosis	OMIM:616033
Pendred Syndrome	Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation	OMIM:274600
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Hypocalcemic seizures, Hypocalcemia, Low-set ears, Patchy osteosclerosis, Posteri...	OMIM:241410
Pseudohypoparathyroidism, Type Ic	Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Osteoporosis, Hypocalcemic t...	OMIM:612462
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera...	ORPHA:85184
Usher Syndrome Type 3	Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology	ORPHA:231183
Pseudohypoparathyroidism, Type Ia	Low urinary cyclic AMP response to PTH administration, Osteoporosis, Subcutaneous ossification, H...	OMIM:103580
Sialidosis Type 2	Osteoporosis, Hearing impairment, Short stature, Flexion contracture, Splenomegaly	ORPHA:87876
Osteosarcoma	Abnormal metaphysis morphology, Abnormal femoral metaphysis morphology, Pathologic fracture, Abno...	ORPHA:668
Multiple Enchondromatosis, Maffucci Type	Multiple enchondromatosis, Pathologic fracture	OMIM:614569
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Clinodactyly of the 5th finger, Jo...	ORPHA:1515
Osteogenesis Imperfecta, Type Xxi	Osteoporosis, Coxa vara, Coxa valga, Joint hypermobility, Bowing of the legs, Recurrent fractures...	OMIM:619131
Hypocalcemia, Autosomal Dominant 1	Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,...	OMIM:601198
Osteogenesis Imperfecta, Type Xi	Osteopenia, Coxa vara, Hearing impairment, Short stature, Protrusio acetabuli, Joint hypermobilit...	OMIM:610968
Proteus Syndrome	Venous malformation, Calvarial hyperostosis, Mandibular hyperostosis, Facial hyperostosis, Spleno...	OMIM:176920
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Sensorineural hearing impairment, Short stature, Slender long bones with narrow diaph...	ORPHA:50811
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Odontochondrodysplasia 1	Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Metaphy...	OMIM:184260
Branchiootic Syndrome 1	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf...	OMIM:602588
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Postnatal growth retardation, Prelingual sensorineural hearing impairment, Clinodactyly of the 5t...	ORPHA:73272
Mucopolysaccharidosis Type 2	Optic atrophy, Decreased nerve conduction velocity, Hip osteoarthritis, Flexion contracture of di...	ORPHA:580
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Van Buchem Disease	Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density	OMIM:239100
Dysosteosclerosis	Abnormal metaphysis morphology, Optic atrophy, Craniofacial hyperostosis, Increased bone mineral ...	ORPHA:1782
Osteogenesis Imperfecta, Type Ix	Decreased calvarial ossification, Multiple prenatal fractures, Short lower limbs, Bowing of limbs...	OMIM:259440
Branchiootic Syndrome	Abnormal middle ear morphology, Abnormality of the inner ear, Sensorineural hearing impairment, F...	ORPHA:52429
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Genu valgum, Osteoporosis	OMIM:614880
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ...	ORPHA:50815
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Bone pain, Ti...	OMIM:241530
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Femoral bowing, Broad thumb, Delayed skeletal maturation, Short 5th metacar...	OMIM:619638
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Usher Syndrome Type 1	Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology	ORPHA:231169
Progressive Pseudorheumatoid Arthropathy Of Childhood	Genu valgum, Abnormal shoulder morphology, Flat capital femoral epiphysis, Abnormal ilium morphol...	ORPHA:1159
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hypocalcemia, Nephrocalcinosis, Cataract, Hyperphosphatemia	OMIM:146200
Cochleosaccular Degeneration-Cataract Syndrome	Cochlear degeneration, Progressive sensorineural hearing impairment	ORPHA:3233
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Transient hypophosphatemia, Anemia, Retinal calcification, Hypocalcemia, Increase...	OMIM:127000
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy, Progressive cerebellar ataxia, Ataxia	ORPHA:3177
Premature Aging Syndrome, Okamoto Type	Abnormal pinna morphology, Low-set ears, Osteoporosis	OMIM:601811
Deafness, Autosomal Dominant 9	Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo...	OMIM:601369
Diamond-Blackfan Anemia 7	Osteopenia, Recurrent otitis media, Triphalangeal thumb, Macrocytic anemia, Increased mean corpus...	OMIM:612562
Mucolipidosis Type Iii	Reduced bone mineral density, Hearing abnormality, Abnormal hip bone morphology, Craniofacial hyp...	ORPHA:577
Hall-Riggs Syndrome	Delayed skeletal maturation, Osteoporosis, Metaphyseal dysplasia, Brachydactyly	OMIM:234250
Cleidocranial Dysplasia	Chronic otitis media, Decreased skull ossification, Abnormal epiphysis morphology, Hearing abnorm...	ORPHA:1452
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ...	OMIM:603909
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Bone pain, Bone cyst, ...	ORPHA:93160
Osteogenesis Imperfecta, Type Xviii	Femoral bowing, Bowing of the long bones, Generalized osteoporosis, Joint hypermobility, Recurren...	OMIM:617952
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi...	OMIM:144750
Generalized Arterial Calcification Of Infancy	Calcification of the aorta, Periarticular calcification, Cerebral calcification, Pancreatic calci...	ORPHA:51608
Desbuquois Dysplasia 1	Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Joint hy...	OMIM:251450
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia, Delayed epiphyseal ossification	OMIM:618618
Immunodeficiency 52	Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod...	OMIM:617514
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Osteoarthritis of the elbow, Hip osteoarthritis, Abnormal femoral head morphology, Br...	ORPHA:2619
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly, Corneal opacity, Microcornea	ORPHA:2432
Pseudopseudohypoparathyroidism	Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly	OMIM:612463
Spondylo-Ocular Syndrome	Abnormal antihelix morphology, Low-set ears, Osteoporosis, Short stature, Disproportionate short-...	ORPHA:85194
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Recurrent sinusitis, Transient neutropenia, Decreased circulatin...	OMIM:619707
Vitamin D-Dependent Rickets, Type 2A	Rickets, Fibular bowing, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowin...	OMIM:277440
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Grange Syndrome	Short palm, Syndactyly, Arterial stenosis, Patent ductus arteriosus, Increased susceptibility to ...	ORPHA:79094
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Anemia, Flared metaphysis...	OMIM:259700
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Small earlobe, Hypoplastic iliac wing, ...	ORPHA:93315
Dysosteosclerosis	Diaphyseal undertubulation, Osteopenia, Clavicular sclerosis, Optic atrophy, Abnormal metaphyseal...	OMIM:224300
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Sensorineural hearing impairment, Otosclerosis, Arthritis, Limitation of joint mob...	ORPHA:217085
Immunodeficiency 62	Complete or near-complete absence of specific antibody response to tetanus vaccine, B lymphocytop...	OMIM:618459
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Osteopetrosis, Genu valgum, Anemia, Diaphyseal sclerosis, Pancytopenia, Rec...	OMIM:259710
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy, Recurrent fractures	ORPHA:2773
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Bone cyst, Knee osteoarthritis, Osteoporosis, Coxa vara, Camptodacty...	ORPHA:2848
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Splenomegaly, Anemia, Recurrent fractures	OMIM:618107
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Flexion contracture of toe, Osteoporosis, Finger joint contracture, Short stature, Intrauterine g...	ORPHA:48431
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Sensorineural hearing impairment, Otosclerosis, Arthritis, Limitation of joint mob...	ORPHA:217093
Congenital Bile Acid Synthesis Defect Type 1	Splenomegaly, Osteoporosis	ORPHA:79301
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Subperiosteal bone formation, Conjunc...	OMIM:211900
Mucolipidosis Type Iii Alpha/Beta	Postnatal growth retardation, Recurrent otitis media, Bone pain, Sensorineural hearing impairment...	ORPHA:423461
Osteogenesis Imperfecta, Type Viii	Osteopenia, Slender long bone, Femoral retroversion, Wide anterior fontanel, Tibial bowing, Femor...	OMIM:610915
Acrocraniofacial Dysostosis	Abnormal hip bone morphology, Sensorineural hearing impairment, Abnormal pinna morphology, Abnorm...	ORPHA:949
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Premature epimetaphyseal fusion, Reduced bone mineral density, Symmetric polyarthriti...	ORPHA:85435
Analbuminemia	Osteoporosis, Patent ductus arteriosus	OMIM:616000
Schwartz-Jampel Syndrome, Type 1	Abnormal femoral epiphysis morphology, Flexion contracture of toe, Shoulder flexion contracture, ...	OMIM:255800
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Jaundice, Cirrhosis, Tubular luminal dilatation, Hepatocellular carcinoma, Renal...	OMIM:619902
Neonatal Severe Primary Hyperparathyroidism	Abnormal metaphysis morphology, Recurrent fractures, Splenomegaly, Short stature	ORPHA:417
Mandibulofacial Dysostosis-Microcephaly Syndrome	Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdeveloped tragus, A...	ORPHA:79113
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Increased susceptibility to fractures, Flared metaphysis, Aortic root aneurysm, Dyspl...	OMIM:615349
Spondyloepiphyseal Dysplasia Tarda	Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os...	ORPHA:93284
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Fibular bowing, Delayed epiphyseal ossification, Bone pain, Tibial bowing, Femoral bowin...	OMIM:264700
Meckel Syndrome, Type 8	Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Low-set ears, Hyperec...	OMIM:613885
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, Splenom...	OMIM:611490
Indolent Systemic Mastocytosis	Increased proportion of CD25+ mast cells, Osteoporosis, Mastocytosis, Splenomegaly, Abnormal mast...	ORPHA:98848
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Metacarpal osteolysis, Inability to walk, Carpal osteolysis, Corneal opacity, Metatar...	OMIM:166300
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Genu valgum, Reduced bone mineral density, Small epiphyses, Upper limb un...	ORPHA:94068
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Arachnodactyly, Long hallux, Broad hallux, Fifth finger distal ...	OMIM:615923
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Bone pain, Tibial bowing, Femoral bowin...	OMIM:300009
Intermediate Nemaline Myopathy	Facial diplegia, Low-set ears, Facial palsy, Multiple prenatal fractures, Flexion contracture, Ar...	ORPHA:171433
Alkaptonuria	Reduced bone mineral density, Intervertebral disk calcification, Aortic aneurysm, Arthritis, Mitr...	ORPHA:56
Osteopetrosis, Autosomal Recessive 9	Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Pathologic fracture	OMIM:620366
19P13.3 Microduplication Syndrome	Hip subluxation, Microtia, Low-set ears, Osteoporosis, Growth delay, Long fingers, Posteriorly ro...	ORPHA:447980
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit...	OMIM:617519
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutr...	ORPHA:391487
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Reduced bone mineral density, Arteriovenous malformation, Recurrent fractures, Venous insufficiency	ORPHA:137608
Rhyns Syndrome	Osteopenia, Abnormal long bone morphology, Small epiphyses, Hypoplastic ilia, Hearing impairment,...	ORPHA:140976
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Autosomal Dominant Hypocalcemia	Optic atrophy, Reduced bone mineral density, Fatigable weakness, Hypercalciuria, Hypocalcemia, Hy...	ORPHA:428
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, P...	OMIM:112250
Congenital Disorder Of Glycosylation, Type Iiy	Delayed skeletal maturation, Hip subluxation, Reduced bone mineral density	OMIM:620200
Schinzel-Giedion Syndrome	Stiff elbow, Tibial bowing, Short distal phalanx of finger, Overlapping toe, Aganglionic megacolo...	ORPHA:798
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis	OMIM:618234
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Postnatal growth retardation, Low-set ears, Epiphyseal dysplasia, Delayed skeletal ma...	OMIM:614732
Hyperzincemia With Functional Zinc Depletion	Vasculitis, Osteoporosis	OMIM:601979
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Second metatarsal posteriorly placed, Sensorineural hearing impairment, Elbow...	OMIM:214150
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Clinodactyly, Osteoporosis	OMIM:614838
Osteogenesis Imperfecta, Type Xvii	Reduced bone mineral density, Thin metacarpal cortices, Bowed humerus, Thin long bone diaphyses, ...	OMIM:616507
Immunodeficiency 50	Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
Linear Verrucous Nevus Syndrome	Abnormality of the kidney, Aplasia/Hypoplasia of the fovea, Reduced bone mineral density, Hypopho...	ORPHA:2611
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Microphthalmia/Coloboma 10	Microphthalmia, Iris coloboma, Microcoria, Anophthalmia	OMIM:616428
Mohr-Tranebjaerg Syndrome	Postlingual sensorineural hearing impairment, Progressive sensorineural hearing impairment, Incre...	OMIM:304700
Trisomy 13	Optic atrophy, Microphthalmia, Anophthalmia, Abnormal antihelix morphology, Sensorineural hearing...	ORPHA:3378
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involvin...	ORPHA:371428
Blue Diaper Syndrome	Blue urine, Nephrocalcinosis, Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Hypocalcemic seizures, Calvarial osteosclerosis, Anemia, Retinal calcif...	ORPHA:93325
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Majeed Syndrome	Hypochromic microcytic anemia, Increased bone mineral density, Bone pain, Leukocytosis, Synovitis...	ORPHA:77297
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume,...	ORPHA:2169
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Unilateral renal agenesis, Epiphyseal stippling, Calvarial hyperostosis, Hearing i...	OMIM:101800
Craniosynostosis And Dental Anomalies	Chronic otitis media, Lambdoidal craniosynostosis, Absent malleus, 2-3 toe syndactyly, Coronal cr...	OMIM:614188
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel...	OMIM:615513
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Clubbing of fingers, Increased circu...	OMIM:618534
Osteogenesis Imperfecta, Type Vi	Coxa vara, Hearing impairment, Protrusio acetabuli, Joint hypermobility, Bowing of the legs, Recu...	OMIM:613982
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Flared metaphysis, Low-set ears, Decreased skull ossification, Decreased fibular diam...	OMIM:616897
Hutchinson-Gilford Progeria Syndrome	Generalized osteoporosis, Premature coronary artery atherosclerosis, Osteolysis, Precocious ather...	OMIM:176670
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Bicornuate uterus, Neonatal death, Cryptorchidism	OMIM:615524
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Reduced bone mineral density, Pathologic fracture, Increased circulatin...	ORPHA:157215
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Carpal bone hypoplasia, Genu valgum, Ivory epiphyses of the toes, Hip subluxation, Small epiphyse...	OMIM:226980
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Bone pain, Leukemia, Leukocytosis...	ORPHA:98850
Pseudohypoparathyroidism Type 1A	Calcinosis, Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Reduced...	ORPHA:79443
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Generalized joint hypermobility, Hammertoe, Cervical C2/C3 vertebral fusion, Aortic r...	OMIM:618000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Polyuria, Calvarial osteosclerosis, Nephrolithiasis, Metacarpal periosteal thickening...	OMIM:617994
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Clubbing of fingers, Increased circulating...	OMIM:615767
Spinal muscular atrophy, type I, with congenital bone fractures	Rocker bottom foot, Osteopenia, Congenital hip dislocation, Multiple prenatal fractures, Arachnod...	OMIM:271225
Short Stature, Dauber-Argente Type	Osteopenia, Reduced bone mineral density, Decreased fibular diameter, Arachnodactyly, Long finger...	OMIM:619489
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Delayed epiphyseal ossification, Bone pain, Osteomalacia, Tibial bowing, Femoral bowing,...	ORPHA:289157
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentration, Stage 5 c...	OMIM:248250
Brittle Cornea Syndrome	Sensorineural hearing impairment, Camptodactyly, Osteoporosis, Conductive hearing impairment, Ara...	ORPHA:90354
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormal long bone morphology, Calvarial hyperostosis, Cranial nerve compression, Short stature, ...	ORPHA:52430
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	ORPHA:70593
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Claw hand deformity, Sensorineural hearing impairment, Abnor...	OMIM:601455
Cantu Syndrome	Short hallux, Osteoporosis, Delayed skeletal maturation, Metaphyseal widening, Broad hallux, Erle...	OMIM:239850
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Microphthalmia, Hematuria, Retinal detachment, Sensorineural hearing impairment, C...	ORPHA:1473
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Optic atrophy, Sensorineural hearing impairment, Bilateral sensorineural hearing impairm...	OMIM:268315
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Bone-marrow foam cells, Osteoporosis, Foam cells with lamellar inclusion ...	OMIM:257200
Cockayne Syndrome Type 1	Optic atrophy, Abnormality of peripheral nerve conduction, Difficulty walking, Anemia, Hepatomega...	ORPHA:90321
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hyperammonemia, Cardiomegaly, Elevated circulating creatin...	OMIM:608836
Menkes Disease	Metaphyseal spurs, Osteoporosis, Metaphyseal widening, Intracranial hemorrhage, Joint hypermobility	OMIM:309400
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Osteoporosis	OMIM:620532
Mohr-Tranebjaerg Syndrome	Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp...	ORPHA:52368
Oncogenic Osteomalacia	Abnormal fibula morphology, Abnormal femur morphology, Pathologic fracture, Bone pain, Tibial bow...	ORPHA:352540
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Chronic otitis media, Osteopenia, Increased circulating IgE level, Eosinophilia, Joint hypermobil...	ORPHA:2314
Cystinosis	Rickets, Hypokalemia, Nephropathy, Corneal opacity, Gait disturbance, Portal hypertension, Protei...	ORPHA:213
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Postnatal growth retardation, Sensorineural hearing impairment, Elbow flexion contrac...	OMIM:612394
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94090
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity	ORPHA:1490
Nasu-Hakola Disease	Acute leukemia, Reduced bone mineral density, Bone pain, Bone cyst, Cerebral calcification, Limit...	ORPHA:2770
Bor Syndrome	Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ...	ORPHA:107
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hypophosphatasia, Infantile	Stillbirth, Anemia, Unossified vertebral bodies, Metaphyseal cupping, Decreased calvarial ossific...	OMIM:241500
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Delayed puberty, Osteoporosis, Growth delay, Short stature	ORPHA:369
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Short long ...	OMIM:156400
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga...	OMIM:613502
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Hjv Or Hamp-Related Hemochromatosis	Osteoporosis	ORPHA:79230
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration	OMIM:603233
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Infantile Systemic Hyalinosis	Osteopenia, Osteoporosis, Joint stiffness, Camptodactyly of finger, Short palm, Brachydactyly, Os...	ORPHA:2176
Xp21 Deletion Syndrome	Reduced bone mineral density, Recurrent otitis media, Osteoporosis, Growth delay, Joint hypermobi...	ORPHA:261476
Walker-Warburg Syndrome	Optic atrophy, Microphthalmia, Protruding ear, Retinal dysplasia, Hypoplasia of penis, Retinal de...	ORPHA:899
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de...	ORPHA:289176
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Anophthalmia, Hypsarrhythmia, Prominent ear helix, Large earlobe, Multifocal e...	ORPHA:411986
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula...	OMIM:612692
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Flared metaphysis, Short middle phalanx of the 5th finger, Osteoporosis of vertebrae, Metaphyseal...	OMIM:156510
Geroderma Osteodysplastica	Abnormal bone ossification, Osteoporosis, Abnormal epiphysis morphology, Joint hypermobility, Rec...	ORPHA:2078
Deafness, Autosomal Dominant 80	Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con...	OMIM:619274
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata...	OMIM:259600
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Low-set ears, Short metacarpal, Osteoporosis, Accelerated skelet...	OMIM:617190
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis, Arteriosclerosis, Stroke, Stroke-like episode, Lower limb pain	ORPHA:199354
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Inability to walk...	OMIM:617303
Achondrogenesis Type 1A	Short palm, Short foot, Abnormal enchondral ossification, Recurrent fractures	ORPHA:93299
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:620282
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hypercalciuria, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia	ORPHA:2239
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Abnormal B cell morphology, Decreased circulating antibody level, Hypoplastic ischia...	OMIM:616910
Cockayne Syndrome Type 2	Difficulty walking, Hepatomegaly, Anophthalmia, Gait disturbance, Cryptorchidism, Hearing impairm...	ORPHA:90322
Branchiogenic-Deafness Syndrome	Atresia of the external auditory canal, Sensorineural hearing impairment, Mixed hearing impairmen...	OMIM:609166
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Increased circulating interleukin 6 concentration, Abnormal natural ...	OMIM:620430
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul...	OMIM:212050
Roifman Syndrome	Postnatal growth retardation, Recurrent otitis media, Clinodactyly of the 5th finger, Broad femor...	ORPHA:353298
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul...	OMIM:613500
Pycnodysostosis	Short finger, Rhizomelia, Disproportionate short-limb short stature, Increased bone mineral densi...	ORPHA:763
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Osteopenia, Osteoporosis, Coxa vara, Joint stiffness, Hip dysplasia, Osteomalacia, Joint...	ORPHA:1901
Gaucher Disease, Type Iii	Thrombocytopenia, Vascular calcification, Splenomegaly, Pancytopenia	OMIM:231000
Autosomal Recessive Cutis Laxa Type 2A	Postnatal growth retardation, Wide anterior fontanel, Congenital hip dislocation, Hearing impairm...	ORPHA:357058
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Sandal gap, Enlarged metaphyses, Dislocated radial head, Microtia, Generalized osteoporosis, Dela...	OMIM:245600
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Recurre...	OMIM:618969
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Iris coloboma, Anophthalmia	OMIM:611638
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Pachydermoperiostosis	Abnormal cortical bone morphology, Anemia, Avascular necrosis, Bone pain, Arthritis, Limitation o...	ORPHA:2796
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hearing impairment, Rickets, Osteoporosis	OMIM:560000
Alkaptonuria	Limitation of knee mobility, Aortic aneurysm, Arthritis, Mitral valve calcification, Aortic valve...	OMIM:203500
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Pathologic fracture, Bone cyst, Basal ganglia calcification	OMIM:221770
Cooper-Jabs Syndrome	Reduced bone mineral density, Low-set, posteriorly rotated ears, Abnormal hip bone morphology, Pr...	ORPHA:1488
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis	ORPHA:529665
Hypophosphatasia	Abnormal metaphysis morphology, Anemia, Bowing of the long bones, Craniosynostosis, Recurrent fra...	ORPHA:436
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
Thrombocytopenia 6	Thrombocytopenia, Myelofibrosis, Osteoporosis	OMIM:616937
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating...	OMIM:613501
Immunodeficiency 43	Hypoplasia of the ulna, Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnorma...	OMIM:241600
Multiple Pterygium Syndrome, X-Linked	Short finger, Low-set ears, Flexion contracture, Vertebral fusion, Intrauterine growth retardatio...	OMIM:312150
Pendred Syndrome	Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque...	ORPHA:705
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Crumpled long bones, Tibial bowing, Abnormal pelvic girdle bone ...	OMIM:166210
Spondyloepiphyseal Dysplasia, Maroteaux Type	Genu valgum, Generalized osteoporosis, Short palm, Short femoral neck, Small joint hypermobilty	OMIM:184095
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Greenberg Dysplasia	Disproportionate short-limb short stature, Short long bone, Short metacarpal, Decreased skull oss...	OMIM:215140
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Anemia, Partial absence of specific antibody r...	OMIM:301082
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Thrombocytopenia, Hepatomegaly, Corneal opacity	ORPHA:1980
Pseudohypoparathyroidism Type 1C	Calcinosis, Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Hypocal...	ORPHA:79444
Estrogen Resistance Syndrome	Osteopenia, Marked delay in bone age, Coronary artery atherosclerosis, Delayed epiphyseal ossific...	ORPHA:785
Pseudoxanthoma Elasticum, Forme Fruste	Premature occlusive vascular stenosis, Arteriosclerosis, Calcification of falx cerebri, Cerebral ...	OMIM:177850
Peroxisome Biogenesis Disorder 12A (Zellweger)	Double outlet right ventricle, Wide anterior fontanel, Abnormal cortical bone morphology, Patent ...	OMIM:614886
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Pontocerebellar Hypoplasia, Type 2E	Optic atrophy, Osteoporosis, Short stature, Flexion contracture, Large earlobe	OMIM:615851
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ...	OMIM:618944
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Re...	OMIM:619281
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	OMIM:618987
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Joint hypermobility, Reduced bone mineral density, Recurrent fractures	OMIM:619115
Microtia With Meatal Atresia And Conductive Deafness	Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear	OMIM:251800
Mucopolysaccharidosis, Type Ivb	Genu valgum, Osteoporosis, Hearing impairment, Joint stiffness, Hypoplasia of the capital femoral...	OMIM:253010
X Small Rings	Reduced bone mineral density, Clinodactyly of the 5th finger, Joint hypermobility, Upper limb und...	ORPHA:96201
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Decreased circulating IgG level, Brachydactyly, Abnormal epiphysis morphology,...	ORPHA:2643
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Cerebral calcification, Recurrent fractures	OMIM:620368
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia	OMIM:247800
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Galactosialidosis	Hearing impairment, Corneal opacity	ORPHA:351
Beta-Thalassemia Intermedia	Osteopenia, Reduced bone mineral density, Anemia of inadequate production, Leukocytosis, Osteopor...	ORPHA:231222
Maffucci Syndrome	Bone pain, Short stature, Growth delay, Multiple enchondromatosis, Recurrent fractures, Osteolysis	ORPHA:163634
H Syndrome	Hypertriglyceridemia, Corneal arcus, Enlarged kidney, Abnormality of the kidney, Lymphadenopathy,...	ORPHA:168569
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Abnormal au...	OMIM:601559
Neuroleptic Malignant Syndrome	Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur...	ORPHA:94093
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Paget Disease Of Bone 6	Bone pain, Recurrent fractures, Osteoarthritis, Coronary artery atherosclerosis	OMIM:616833
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Generalized joint hypermobility, Postnatal growth retardation, Clinodactyly of the 5t...	ORPHA:251028
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis	OMIM:122860
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Tibial bowing, Femoral bowing, Osteoporosis,...	OMIM:231070
Immunodeficiency 48	Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Splenomegal...	OMIM:269840
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp...	OMIM:619846
Multiple Pterygium Syndrome, Lethal Type	Short finger, Low-set ears, Flexion contracture, Vertebral fusion, Intrauterine growth retardatio...	OMIM:253290
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Osteopenia, Anemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hearing impai...	OMIM:613990
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c...	OMIM:602088
Morgagni-Stewart-Morel Syndrome	Vertigo, Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis	ORPHA:77296
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Mucopolysaccharidosis, Type Iva	Genu valgum, Osteoporosis, Hearing impairment, Pointed proximal second through fifth metacarpals,...	OMIM:253000
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Prominent ear helix, Elbow flexion contracture, Osteoporosis, Posteriorly rotated ear...	OMIM:614438
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Flared metaphysis, Metaphyseal cupping, Bowing of the legs, Genu varum	OMIM:619073
Matthew-Wood Syndrome	Microphthalmia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera...	ORPHA:2470
Dent Disease	Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Renal hypophosphatemia, Rick...	ORPHA:1652
Campomelic Dysplasia	Fibular hypoplasia, Poorly ossified cervical vertebrae, Tracheomalacia, Tracheobronchomalacia, Sh...	ORPHA:140
Beckwith-Wiedemann Syndrome	Abnormal earlobe morphology, Otosclerosis, Wide anterior fontanel, Hearing impairment, Posterior ...	ORPHA:116
Osteoglophonic Dysplasia	Short metacarpal, Broad metatarsal, Broad thumb, Severe short stature, Craniosynostosis, Rhizomel...	OMIM:166250
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist...	OMIM:609465
Gómez-López-Hernández Syndrome	Low-set ears, Corneal opacity, Ataxia	ORPHA:1532
Diaphanospondylodysostosis	Absent in utero rib ossification, Enlarged kidney, Abnormal liver lobulation, Tracheomalacia, Nep...	OMIM:608022
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope...	ORPHA:169079
Fibrous Dysplasia Of Bone	Rickets, Abnormal femur morphology, Abnormal tibia morphology, Pathologic fracture, Bone pain, Ab...	ORPHA:249
Immunodeficiency 11A	Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr...	OMIM:615206
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa...	OMIM:601596
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Complete or near-complete abs...	OMIM:607271
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Bone ...	ORPHA:98849
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Clinodactyly of the 5th finger, Sensorineural hearing i...	OMIM:608747
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo...	ORPHA:2741
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,...	OMIM:616636
Immunodeficiency 12	Absent isohemagglutinin level, Complete or near-complete absence of specific antibody response to...	OMIM:615468
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Corneal opacity, Developmental cataract, Flexion contracture, EEG abnormality, Crypt...	OMIM:618815
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Optic atrophy, Postnatal growth retardation, Genu valgum, Anemia, Metaphyseal scleros...	OMIM:612199
Hereditary Sensory And Autonomic Neuropathy Type 1	Limb pain, Abnormality of the autonomic nervous system, Hearing impairment, Decreased amplitude o...	ORPHA:36386
Arthrogryposis, Distal, Type 2A	Rocker bottom foot, Joint contracture of the hand, Postnatal growth retardation, Flexion contract...	OMIM:193700
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Bone pain, Osteomalacia, Recurrent fractures	OMIM:613388
Gaucher Disease Type 1	Delayed puberty, Increased circulating antibody level, Delayed skeletal maturation, Erlenmeyer fl...	ORPHA:77259
Ovarian Dysgenesis 8	Osteoporosis	OMIM:618187
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ...	OMIM:615214
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal earlobe morphology, Abn...	ORPHA:2769
Florid Cemento-Osseous Dysplasia	Avascular necrosis, Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bo...	ORPHA:83451
Familial Isolated Hyperparathyroidism	Osteopenia, Generalized osteoporosis, Chondrocalcinosis	ORPHA:99879
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud...	ORPHA:1215
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed skeletal maturation, Reduced bone mineral density, Recurrent fractures, Osteoporosis	ORPHA:2235
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Osteolytic defects of the phalanges of the hand, Arthritis, Clubbing, Limitation of j...	OMIM:259100
Peroxisome Biogenesis Disorder 3B	Sensorineural hearing impairment, Osteoporosis	OMIM:266510
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Transient ischemic attack, Osteoporosis, Abnormal internal carotid artery morphology,...	ORPHA:365
Cole-Carpenter Syndrome 1	Osteopenia, Reduced bone mineral density, Coronal craniosynostosis, Orbital craniosynostosis, Rec...	OMIM:112240
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia...	OMIM:300400
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Osteoporosis, Delayed skeletal maturation, Clinodactyly, Down-sloping ...	OMIM:616200
Stüve-Wiedemann Syndrome	Abnormal metaphysis morphology, Osteopenia, Genu valgum, Abnormal cortical bone morphology, Elbow...	ORPHA:3206
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metata...	OMIM:190351
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess, Decreased ci...	OMIM:619752
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Femoral bowing, Joint stiffness, Camptodactyly of finger, Arac...	ORPHA:83
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Osteopenia, Lambdoidal craniosynostosis, Low-set ears, Osteoporosis, Dela...	OMIM:615398
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Postnatal growth retardation, Recurrent otitis media, Intrauterine growth retardation, Clinodacty...	ORPHA:254531
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Decreased c...	OMIM:308240
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Sensorineural hearing impairment, Joint contracture, Osteoporosis	OMIM:615381
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel...	OMIM:615592
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Waddling gait, Hepatosplenomegaly, Hy...	OMIM:307800
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Reduced bone mineral density, Joint stiffness, Decreased circulatin...	OMIM:620210
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Absent antihelix, 2-3 toe cutaneous syndactyly, Short finger, Clinodactyly of the 5th finger, Int...	OMIM:300998
Mullegama-Klein-Martinez Syndrome	Polydactyly, Absent stapes, Clinodactyly of the 5th finger, Sensorineural hearing impairment, Mic...	OMIM:301022
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Tibial bowing, Bowing of the long bones, Mic...	OMIM:613848
Immunodeficiency, Common Variable, 1	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence...	OMIM:607594
Ghosal Hematodiaphyseal Dysplasia	Diaphyseal dysplasia, Increased bone mineral density, Myelofibrosis, Bone marrow hypocellularity,...	OMIM:231095
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Mixed hearing impairment, Arachnodactyly, Slender long bones with narrow diaphyses, Joint hypermo...	ORPHA:536467
Smith-Magenis Syndrome	Abnormal middle ear morphology, Abnormal nerve conduction velocity, Hearing impairment, Abnormali...	OMIM:182290
Microphthalmia, Syndromic 9	Renal malrotation, Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Pelvic kidney, ...	OMIM:601186
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Osteolysis	ORPHA:158014
Cataract 21, Multiple Types	Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ...	OMIM:610202
Mccune-Albright Syndrome	Hearing impairment, Pathologic fracture, Craniofacial hyperostosis, Polyostotic fibrous dysplasia	OMIM:174800
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity...	ORPHA:3261
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, Sensorineural hearing impairment, Microcornea, Sclerocornea, Catara...	ORPHA:139471
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Optic nerve ...	ORPHA:667
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Pathologic fracture	OMIM:179800
Familial Dysautonomia	Optic atrophy, Abnormality of the kidney, Glomerulopathy, Corneal erosion, Orthostatic hypotensio...	ORPHA:1764
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Hepatomegaly, Anemia, Sensorineural hearing impairment, Corneal opacity...	ORPHA:290
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo...	ORPHA:536471
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Retrognathia, B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG ...	OMIM:614069
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea...	OMIM:300555
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the inner ear, Sensorineural hearing impairment, Microtia, Abnormality of the midd...	ORPHA:2549
Alpha-Mannosidosis	Chronic otitis media, Hepatomegaly, Craniofacial hyperostosis, Arthritis, Abnormal helix morpholo...	ORPHA:61
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Hypophosphatemia, Osteomalacia	OMIM:193100
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Pancytopenia, Lymphocytosis, Decreased lymphocyte apoptosis...	OMIM:614470
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ...	ORPHA:3236
Nail-Patella Syndrome	Abnormal femur morphology, Reduced bone mineral density, Coronary artery dissection, Dislocated r...	ORPHA:2614
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Stroke, Limitation of joint mobility, Osteoporosis, Generalized osteoporosis, Arachnodactyly	OMIM:236200
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Flared metaphysis, Dislocated radial head, Short clavicles, Absent earlobe, Low-set e...	OMIM:130070
Werner Syndrome	Premature arteriosclerosis, Reduced bone mineral density, Osteoporosis, Elevated hemoglobin A1c, ...	OMIM:277700
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m...	OMIM:202700
Richards-Rundle Syndrome	Hearing impairment, Joint stiffness, Reduced bone mineral density	ORPHA:1399
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA level, Thrombocytop...	OMIM:618048
Cantú Syndrome	Abnormal metaphysis morphology, Short hallux, Finger syndactyly, Osteoporosis, Delayed skeletal m...	ORPHA:1517
Propionic Acidemia	Cerebellar hemorrhage, Anemia, Pancytopenia, Osteoporosis, Thrombocytopenia, Neutropenia	OMIM:606054
Sickle Cell Anemia	Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Avascular necrosis, Increased ...	ORPHA:232
Spinocerebellar Ataxia-Dysmorphism Syndrome	Optic atrophy, Reduced bone mineral density, Low-set, posteriorly rotated ears, Spina bifida occu...	ORPHA:1185
Crouzon Syndrome	Optic atrophy, Multiple suture craniosynostosis, Hearing impairment, Conductive hearing impairmen...	ORPHA:207
Lowry-Maclean Syndrome	Osteopenia, Low-set ears, Osteoporosis, Growth delay, Intrauterine growth retardation, Craniosyno...	ORPHA:2409
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia,...	OMIM:232220
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Fractures of the long bones, Abnorm...	ORPHA:464329
Progressive Familial Intrahepatic Cholestasis	Delayed skeletal maturation, Reduced bone mineral density, Splenomegaly	ORPHA:172
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Abnormal pinna morphology, Osteoporosis, Short stature, ...	OMIM:309583
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Rickets, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hy...	OMIM:134600
Cole-Carpenter Syndrome 2	Osteopenia, Postnatal growth retardation, Lambdoidal craniosynostosis, Narrow iliac wing, Coronal...	OMIM:616294
Gaucher Disease Type 3	Anemia, Avascular necrosis, Pancytopenia, Increased bone mineral density, Bone pain, Mitral valve...	ORPHA:77261
Hypercalcemia, Infantile, 2	Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ...	OMIM:616963
Alpha-Mannosidosis, Adult Form	Osteopenia, Mixed hearing impairment, Pancytopenia, Corneal opacity, Ataxia, Hepatosplenomegaly, ...	ORPHA:309288
Paget Disease Of Bone 3	Bone pain, Fractures of the long bones, Patchy osteosclerosis, Hearing impairment, Osteolysis	OMIM:167250
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hypophosphatemic rickets, Abnormal finger morphology, Coarctation of aorta, Abnormal ...	OMIM:163200
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia	OMIM:616873
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Macrosc...	ORPHA:251004
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Femoral retroversion, Wide anterior fontanel, Hypoplastic pulmon...	OMIM:610682
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Delayed puberty, Sensorineural hearing impairment, Osteoporosis, Short stature, Delay...	ORPHA:2326
Adamantinoma	Pathologic fracture, Bone pain	ORPHA:55881
Mucopolysaccharidosis Type 3	Chronic otitis media, Optic atrophy, Mixed hearing impairment, Genu valgum, Reduced bone mineral ...	ORPHA:581
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Sialidosis Type 1	Decreased nerve conduction velocity, Increased urinary O-linked sialopeptides, Sensorineural hear...	ORPHA:812
Distal Renal Tubular Acidosis	Rickets, Reduced bone mineral density, Bone pain, Sensorineural hearing impairment, Short stature...	ORPHA:18
Microcephalic Primordial Dwarfism, Montreal Type	EEG abnormality, Reduced bone mineral density, Severe short stature, Low-set, posteriorly rotated...	ORPHA:2617
Hyperparathyroidism, Transient Neonatal	Osteopenia, Subperiosteal bone formation, Splenic cyst, Short long bone, Femoral bowing, Low-set ...	OMIM:618188
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low...	ORPHA:93356
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Astigmatism, Hepatomegaly, Hypospadias, Duplicated collecting system, Optic nerve hypoplasia, Ves...	OMIM:301056
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Osteoporosis	OMIM:615830
Mucolipidosis Ii Alpha/Beta	Tip-toe gait, Osteopenia, Enlarged kidney, Recurrent otitis media, Hepatomegaly, Cardiomegaly, Cr...	OMIM:252500
Arteriosclerosis, Severe Juvenile	Calcification of the aorta, Central retinal vessel vascular tortuosity, Anemia, Arteriosclerosis,...	OMIM:208060
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Osteolytic defects of the distal phalanges of the hand, Osteoporosis, Rib...	OMIM:614008
Classic Galactosemia	Reduced bone mineral density, Abnormal erythrocyte enzyme concentration or activity, Osteoporosis	ORPHA:79239
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia,...	OMIM:232200
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Cleidocranial Dysplasia 2	Osteopenia, Genu valgum, Delayed pubic bone ossification, Wide anterior fontanel, Delayed ossific...	OMIM:620099
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal nerve conduction velocity, Sensorineural hearing impairment, Abnormality o...	ORPHA:93476
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract, Joint hypermobility,...	OMIM:610125
Fryns Microphthalmia Syndrome	Unicornuate uterus, Macrotia, Microphthalmia, Anophthalmia	OMIM:600776
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Enlarged kidney, Anemia, Inability to walk, Nephrotic syndrome, Joint stiffness, B...	ORPHA:505248
Fibular Hemimelia	Abnormal anterior chamber morphology, Abnormal bone ossification, Difficulty walking, Limited kne...	ORPHA:93323
Mccune-Albright Syndrome	Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Hypophosphatemia,...	ORPHA:562
Perrault Syndrome 4	Osteoporosis, Progressive sensorineural hearing impairment	OMIM:615300
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Hypoplasia of penis, Hearing impairment, Sclerocornea,...	ORPHA:77298
Frank-Ter Haar Syndrome	Osteopenia, Flared metaphysis, Prominent coccyx, Wide anterior fontanel, Short long bone, Low-set...	OMIM:249420
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Part...	OMIM:618261
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Difference Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Reduced bone mineral density, Low-set, posteriorly rotated ears, Spina bifida occult...	ORPHA:2983
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Wide distal femoral metaphysis, Delayed epiphyseal ossification, Me...	OMIM:613320
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
46,Xx Gonadal Dysgenesis	Osteopenia, Delayed puberty, Reduced bone mineral density, Osteoporosis of vertebrae, Hearing imp...	ORPHA:243
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Oste...	ORPHA:398063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Retinal detachment, Corneal opacity, Elevated circulating creatine kinase concent...	OMIM:613153
Severe Congenital Nemaline Myopathy	Facial diplegia, Low-set ears, Facial palsy, Multiple prenatal fractures, Flexion contracture, Ad...	ORPHA:171430
Amish Lethal Microcephaly	Limitation of joint mobility, Decreased skull ossification, Osteoporosis	ORPHA:99742
Oculodentodigital Dysplasia	Abnormal metaphysis morphology, Cranial hyperostosis, Clinodactyly of the 5th finger, Abnormal di...	ORPHA:2710
Zellweger Syndrome	Optic atrophy, Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, Epiphyseal stippling, S...	ORPHA:912
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Reduced bone mineral density, Abnormality of the outer ear	ORPHA:466926
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Increased bo...	OMIM:119600
Hamamy Syndrome	Osteopenia, Clinodactyly of the 5th finger, Short 2nd finger, Sensorineural hearing impairment, R...	OMIM:611174
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgE, T lymphocytopenia, Decreased proportion of memory B cells, Decreased c...	OMIM:619510
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Profound sensorineural hearing impairment, Absent internal auditory canal, Hypoplasia of the cochlea	OMIM:620469
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, 3-Methylglutaconic aciduria, Spastic gait, Optic nerve hypoplasia, Corneal opacity...	ORPHA:496790
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Rickets, Osteopenia, Hepatomegaly, Generalized aminoaciduria, Renal tubular...	ORPHA:2088
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Generalized joint hypermobility, Hip subluxation, Vascular dilatation, Aortic aneurys...	ORPHA:1900
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Joint stiffness, Coxa valga, Splenomegaly, Patent ductus arteriosus, Thin...	OMIM:230600
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Delayed puberty, Osteoporosis, Camptodactyly, Delayed skeletal maturation, Congenital...	ORPHA:432
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Pathologic fracture, Retinal calcification, Tibial bowing, Osteoporosis, Metaphyseal ...	OMIM:259770
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitial fibrosis, Chron...	ORPHA:79259
Hajdu-Cheney Syndrome	Osteopenia, Genu valgum, Fibular bowing, Osteolytic defects of the phalanges of the hand, Patholo...	OMIM:102500
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Grange Syndrome	Renal artery stenosis, Coronary artery stenosis, Syndactyly, Brachydactyly, Carotid artery stenos...	OMIM:602531
Phakomatosis Pigmentovascularis	Cerebral calcification, Reduced bone mineral density, Arteriovenous malformation	ORPHA:2875
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Brachyolmia Type 1, Hobaek Type	Osteopenia, Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Occipital Horn Syndrome	Cerebral calcification, Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint ...	ORPHA:198
Osteootohepatoenteric Syndrome	Reduced bone mineral density, Anemia, Hearing impairment, Hip dysplasia, Avascular necrosis of th...	OMIM:619377
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment	OMIM:619553
Werner Syndrome	Rocker bottom foot, Increased bone mineral density, Osteoporosis, Pulmonary artery stenosis, Join...	ORPHA:902
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubuloi...	ORPHA:340
Craniofaciofrontodigital Syndrome	Osteopenia, Dilatation of the cerebral artery, Stroke, Osteoporosis, Coarctation of aorta, Patent...	ORPHA:363705
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Hypophosphatemic rickets, Anemia, Proximal tubulopathy, Organic a...	OMIM:619743
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Patent duct...	OMIM:616867
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Azotemia, Anterior polar cataract, Sensorineural hearing impairment, Nephrotic syndrom...	OMIM:104200
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, A...	ORPHA:2909
Sapho Syndrome	Hyperostosis, Vasculitis, Arthritis, Bone pain, Synovitis, Osteomyelitis, Enthesitis, Abnormal sa...	ORPHA:793
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Cirrhosis,...	OMIM:276700
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor	OMIM:617523
Trisomy 1Q	Congenital megaureter, Anophthalmia, Low-set ears, Camptodactyly of finger, Hydronephrosis, Small...	ORPHA:261344
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, Arthritis, Panhypogammaglobulinemia, T lymphocytopenia	OMIM:601457
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Femur fracture, Osteopetrosis, Anemia, Optic nerve compression, Growth delay, Decr...	OMIM:612301
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,...	OMIM:618913
Premature Aging Syndrome, Penttinen Type	Slender long bone, Sensorineural hearing impairment, Recurrent fractures, Tibial bowing, Osteolyt...	OMIM:601812
Meckel Syndrome	Microphthalmia, Ureteral duplication, Pancreatic fibrosis, Optic atrophy, Low-set, posteriorly ro...	ORPHA:564
Harel-Yoon Syndrome	Optic atrophy, Inability to walk, Corneal opacity, Developmental cataract, Ataxia	OMIM:617183
Branchiootorenal Syndrome 1	Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,...	OMIM:113650
X-Linked Hypophosphatemia	Reduced bone mineral density, Sensorineural hearing impairment, Flared iliac wing, Abnormal epiph...	ORPHA:89936
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Juvenile Sialidosis Type 2	Optic atrophy, Abnormality of the kidney, Hepatomegaly, Corneal opacity, Low-set ears, Visceromeg...	ORPHA:93399
Activated Pi3K-Delta Syndrome	B lymphocytopenia, Arthritis, Decreased circulating antibody level, Increased circulating IgM lev...	ORPHA:397596
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Iron deficiency anemia, Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Osteomalacia	ORPHA:89937
Brachyolmia Type 1, Toledo Type	Increased urinary disaccharide excretion, Opacification of the corneal stroma, Precocious costoch...	OMIM:271630
Renal Dysplasia	Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure...	ORPHA:93108
Basal Ganglia Calcification, Idiopathic, 1	Cerebellar dentate nucleus calcification, Calcification of the small brain vessels, Basal ganglia...	OMIM:213600
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Increased cir...	ORPHA:169154
Stickler Syndrome Type 2	Retinal detachment, Sensorineural hearing impairment, Corneal opacity, Cataract	ORPHA:90654
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ...	OMIM:619705
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Osteoporosis	OMIM:219080
Osteogenesis Imperfecta	Mixed hearing impairment, Abnormal femur morphology, Reduced bone mineral density, Abnormal hip b...	ORPHA:666
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Delayed puberty, T lymphocytopenia, Generalized osteoporosis, Short stature, Brachyda...	ORPHA:2959
Lenz-Majewski Hyperostotic Dwarfism	Abnormal metaphysis morphology, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morph...	ORPHA:2658
Distal Deletion 10Q	Sandal gap, Prominent fingertip pads, Facial diplegia, Cochlear malformation, Congenital sensorin...	ORPHA:96148
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis	OMIM:615954
Cystinosis, Nephropathic	Recurrent corneal erosions, Generalized aminoaciduria, Corneal crystals, Hypophosphatemia, Spleno...	OMIM:219800
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Narrow greater sciatic notch, Dislocated radial head, Delayed ossification of carpal bones, Decre...	OMIM:617425
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Osteoporosis	OMIM:610475
Immunodeficiency 57 With Autoinflammation	Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe...	OMIM:618108
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis...	OMIM:615415
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Macular coloboma, Geographic atrophy, Sensorineural hearing impairment, Abnormal auditory evoked ...	OMIM:619260
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Hypocalcemia, Decreased skull ossification, Asplenia, Hypoplastic splee...	OMIM:602361
Congenital Disorder Of Glycosylation, Type Iib	Optic atrophy, Overlapping fingers, Sensorineural hearing impairment, Recurrent fractures, Decrea...	OMIM:606056
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Avascular necrosis, Pancytopenia, Osteoporosis, Leukopenia, Thrombocytopenia, Ne...	OMIM:613989
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Cinca Syndrome	Reduced bone mineral density, Anemia, Sensorineural hearing impairment, Leukocytosis, Hearing imp...	ORPHA:1451
Mucolipidosis Iv	Optic atrophy, Opacification of the corneal stroma, Retinal degeneration, Corneal opacity	OMIM:252650
Fanconi-Bickel Syndrome	Rickets, Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid concentration, General...	OMIM:227810
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, M...	OMIM:616723
Microphthalmia, Syndromic 16	Microphthalmia, Sclerocornea, Anophthalmia	OMIM:611038
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr...	OMIM:604387
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Hyperp...	ORPHA:423
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Hepatomegaly, Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria...	OMIM:616026
Osteogenesis Imperfecta, Type Xv	Joint hypermobility, Bowing of limbs due to multiple fractures, Recurrent fractures, Short stature	OMIM:615220
Rin2 Syndrome	Joint hypermobility, Increased susceptibility to fractures, Brachydactyly, Aortic aneurysm	ORPHA:217335
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Aplasia/hypoplasia of the femur, Broad distal phalanx of finger, Abnormal finger morphology, Larg...	ORPHA:2636
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Short clavicles, Steep acetabular roof, Low-set ears, Hypoplastic ischia, Coronal cra...	ORPHA:313855
Hajdu-Cheney Syndrome	Osteopenia, Delayed puberty, Partial absence of toe, Bone pain, Low-set ears, Bowing of the long ...	ORPHA:955
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microphthalmia, Astigmatism, Protruding ear, Myopic astigmatism, Retinal detachmen...	OMIM:152950
Hemochromatosis, Type 1	Splenomegaly, Osteoporosis	OMIM:235200
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Postnatal growth retardation, Carpal bone hypoplasia, Tapered phalanx of finger, Small epiphyses,...	OMIM:611717
Saethre-Chotzen Syndrome	Optic atrophy, Clinodactyly of the 5th finger, Triphalangeal thumb, Abnormal antihelix morphology...	ORPHA:794
Craniometadiaphyseal Dysplasia	Osteopenia, Genu valgum, Flared metaphysis, Wide anterior fontanel, Low-set ears, Short stature, ...	OMIM:269300
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro...	OMIM:619374
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Rickets, Hypokalemia, Glycosuria, Hyperphosphaturia, Renal Fanc...	ORPHA:411629
Menkes Disease	Abnormal metaphysis morphology, Abnormal carotid artery morphology, Tarsal synostosis, Vascular d...	ORPHA:565
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Delayed...	ORPHA:221016
Aortic Valve Disease 2	Calcification of the aorta, Aortic aneurysm, Aortic tortuosity, Coarctation of aorta, Ascending a...	OMIM:614823
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Reduced bone mineral density, Anemia, Lymphopenia, Agammaglobulin...	ORPHA:935
Congenital Myopathy 22A, Classic	Osteoporosis, Congenital finger flexion contractures, Hip contracture, Neonatal death, Achilles t...	OMIM:620351
X-Linked Intellectual Disability, Snyder Type	Small earlobe, Recurrent fractures, EEG abnormality, Low-set ears, Camptodactyly, Osteoporosis, S...	ORPHA:3063
Familial Papillary Or Follicular Thyroid Carcinoma	Bone pain, Abnormal neck blood vessel morphology, Recurrent fractures	ORPHA:319487
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Acute kidney injury, Hypocalcemia, Elevated circulating creatine kinase concentrati...	ORPHA:466650
Treacher Collins Syndrome 2	Fusion of middle ear ossicles, Conductive hearing impairment, Microtia, Anotia	OMIM:613717
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Gait disturbance, Hearing i...	OMIM:614170
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Postnatal growth retardation, Joint hypermobility, Low-set ears, Protruding ear, Addu...	OMIM:616603
Macs Syndrome	Dilation of Virchow-Robin spaces, Aortic aneurysm, Osteoporosis, Brachydactyly, Joint hypermobility	OMIM:613075
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural killer cell phys...	OMIM:613101
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Sensorineural hearing impairment, Low-set ears, Abnormality of the mid...	ORPHA:2789
Erythrokeratodermia Variabilis	Protruding ear, Corneal opacity, Abnormal testis morphology, Hearing impairment, Cataract	ORPHA:317
Glass Syndrome	Anterior tibial bowing, Low-set ears, Camptodactyly, Generalized osteoporosis, Arachnodactyly, Sh...	OMIM:612313
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Neu-Laxova Syndrome	Rickets, Osteopenia, Osteoporosis, Macrotia, Flexion contracture, Osteomalacia, Arthrogryposis mu...	ORPHA:2671
Immunodeficiency 92	Abnormal B cell proliferation, Thrombocytosis, Decreased proportion of class-switched memory B ce...	OMIM:619652
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca...	OMIM:600740
Cerebrooculonasal Syndrome	Abnormal tragus morphology, Low-set, posteriorly rotated ears, Anophthalmia, Hypoplasia of penis,...	ORPHA:66625
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Micrognathia, Decreased circulating antibody level	OMIM:301045
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Elevated circulating creatinine concentration, Cholecyst...	ORPHA:449395
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Multifocal epileptiform ...	ORPHA:453510
Osteogenesis Imperfecta, Type Xx	Disproportionate short-limb short stature, Low-set ears, Multiple prenatal fractures, Posteriorly...	OMIM:618644
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Clinodactyly of the 5th finger, Lymphopenia	ORPHA:1116
Congenital Sialidosis Type 2	Optic atrophy, Abnormality of the kidney, Hepatomegaly, Corneal opacity, Low-set ears, Hearing im...	ORPHA:93400
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Unilateral renal agenesis, Corneal opacity, Testicular seminoma, Hypogonadism, Cr...	ORPHA:281090
Loeys-Dietz Syndrome 2	Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Arachnodactyl...	OMIM:610168
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma, Ataxia	OMIM:271310
Cockayne Syndrome B	Optic atrophy, Postnatal growth retardation, Square pelvis bone, Decreased nerve conduction veloc...	OMIM:133540
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Bicoronal synostosis, Joint hypermobility, Osteoporosis, Osteopenia	OMIM:619718
Cerebrotendinous Xanthomatosis	Osteopenia, Optic atrophy, Abnormal femur morphology, Abnormal tibia morphology, Decreased nerve ...	ORPHA:909
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Decreased circulating total IgG, Clinodactyly of the 2nd finger, Broad middle phalanx...	ORPHA:221139
Lcat Deficiency	Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo...	ORPHA:650
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Sensorineural hearing impairment, Athetosis, Corneal opacity, Limitation of joint mobilit...	ORPHA:2719
Hydrolethalus	Microphthalmia, Low-set, posteriorly rotated ears, Abnormal fallopian tube morphology, Anophthalm...	ORPHA:2189
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ...	OMIM:610532
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Limited elbow extension, Genu valgum, Rhizomelia, Flat capital femoral epiphysis, Sma...	OMIM:271510
Dyskeratosis Congenita	Anemia, Avascular necrosis, Osteoporosis, Hearing impairment, Bone marrow hypocellularity, Short ...	ORPHA:1775
Dominant Beta-Thalassemia	Genu valgum, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231226
Autoinflammatory Disease, Systemic, X-Linked	B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate...	OMIM:301081
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti...	OMIM:615113
Autosomal Recessive Kenny-Caffey Syndrome	Postnatal growth retardation, Calvarial osteosclerosis, Decreased skull ossification, Thin long b...	ORPHA:93324
Microphthalmia With Limb Anomalies	Microphthalmia, Camptodactyly of 2nd-5th fingers, Anophthalmia, Low-set ears, Unilateral cryptorc...	OMIM:206920
Bone Marrow Failure Syndrome 4	Anemia, Rhizomelia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic bile duct ...	ORPHA:731
Pulmonary Alveolar Microlithiasis	Calcification of the aorta, Clubbing of fingers, Stippled calcification in carpal bones, Mitral v...	ORPHA:60025
Lathosterolosis	Anisopoikilocytosis, 2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Postaxial hand p...	OMIM:607330
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr...	OMIM:619802
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Sensorineural hearing impairme...	OMIM:206900
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Genu valgum, Arteriovenous malformation, Osteoporosis, Joint stiffness, Arachnodactyly, Intracran...	ORPHA:394
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Farber Disease	Short finger, Anemia, Arthritis, Osteoporosis, CNS foam cells, Short toe, Cherry red spot of the ...	ORPHA:333
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating IgE, Pancytopenia, Decreased proportion of memory...	OMIM:618394
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Vascular dilatation, Osteoporosis, Accelerated skeletal maturation, Flexion contractu...	OMIM:613327
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, De...	OMIM:617780
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Myelofibrosis, Bone marrow hypo...	OMIM:301078
Celiac Disease, Susceptibility To, 1	Rickets, Delayed puberty, Postnatal growth retardation, Iron deficiency anemia, Macrocytic anemia...	OMIM:212750
Pearson Syndrome	Reticulocytosis, Bone marrow hypocellularity, Ataxia, Hypophosphatemia, Splenomegaly, Pancreatic ...	ORPHA:699
Glycerol Kinase Deficiency	Low-set ears, Osteoporosis, Growth delay, Short stature, Pathologic fracture	OMIM:307030
Multiple Sulfatase Deficiency	Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, Corneal opacity, Mucopolysaccharid...	ORPHA:585
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Delayed puberty, Marked delay in bone age, Triphalangeal thumb, Osteoporosis, Hearing...	ORPHA:2232
Faciocardiomelic Syndrome	Polydactyly, Osteopenia, Slender long bone, Hypoplastic pelvis, Thin bony cortex, Micrognathia, D...	OMIM:612731
Schwartz-Jampel Syndrome	Flexion contracture of toe, Abnormally ossified vertebrae, Wrist flexion contracture, Joint stiff...	ORPHA:800
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Abnormal ulnar metaphysis morphology, Osteopenia, Finger symphalangism, Anemia, ...	ORPHA:221008
Lateral Meningocele Syndrome	Low-set ears, Abnormality of the middle ear ossicles, Short stature, Conductive hearing impairmen...	OMIM:130720
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Abnormal pinna morphology, Low-set ears, Polysplenia, Craniosynost...	OMIM:200995
Anophthalmia Plus Syndrome	Aplasia/Hypoplasia of the earlobes, Iris coloboma, Low-set, posteriorly rotated ears, Anophthalmia	ORPHA:1104
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthritis, Osteoporosis, Joint stiffness, Splenomegaly, Abnormal metacarpophalangeal joint morpho...	ORPHA:465508
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Kallmann Syndrome	Delayed puberty, Reduced bone mineral density, Sensorineural hearing impairment, Delayed skeletal...	ORPHA:478
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal neck blood vessel morphology, Recurrent fractures	ORPHA:97290
Cockayne Syndrome A	Sensorineural hearing impairment, Abnormal pinna morphology, Retinal atrophy, Ataxia, Splenomegal...	OMIM:216400
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Joint contracture	OMIM:616881
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries	ORPHA:90301
Morquio Syndrome C	Corneal opacity	OMIM:252300
Thiel-Behnke Corneal Dystrophy	Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop...	ORPHA:98960
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan...	OMIM:618986
Aromatase Deficiency	Osteopenia, Genu valgum, Delayed epiphyseal ossification, Bone pain, Osteoporosis, Delayed skelet...	ORPHA:91
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Microphthalmia, Corneal opacity, Joint stiffness, Nephrocalcinosis, Multipl...	ORPHA:534
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Genu valgum, Reduced bone mineral density, Bowing of the long bon...	ORPHA:582
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Microcornea, Precocious puberty, Sclerocornea, Ectopia...	OMIM:615877
Gaucher Disease	Delayed puberty, Increased circulating antibody level, Joint stiffness, Delayed skeletal maturati...	ORPHA:355
Cranioectodermal Dysplasia 1	Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad toe, Triphalangeal hallux, Low-...	OMIM:218330
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Osteoporosis	OMIM:610489
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Beta-Thalassemia Major	Anisopoikilocytosis, Genu valgum, Hypochromic microcytic anemia, Decreased mean corpuscular hemog...	ORPHA:231214
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Sensorineural hearing impairment, Shoulder dislocation, Low-set ears, Osteoporosis, C...	ORPHA:536545
Marshall-Smith Syndrome	Optic nerve hypoplasia, Prominent fingertip pads, Accelerated skeletal maturation, Short distal p...	OMIM:602535
Gm1 Gangliosidosis	Optic atrophy, Corneal opacity, Low-set ears, Gait disturbance, Joint stiffness, Camptodactyly of...	ORPHA:354
Chilblain Lupus	Finger swelling, Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Functioning Gonadotropic Adenoma	Osteopenia, Delayed skeletal maturation, Osteoporosis	ORPHA:91348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Mic...	OMIM:236670
Craniopharyngioma	Optic atrophy, Delayed puberty, Postnatal growth retardation, Vertigo, Proportionate short statur...	ORPHA:54595
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Hypoplastic iliac wing, Microtia, Tibial bowing, Delayed skeletal maturation, Short distal phalan...	OMIM:210720
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, T ly...	ORPHA:508533
Prader-Willi Syndrome	Osteopenia, Stroke, Osteoporosis, Hip dysplasia, Short foot, Increased susceptibility to fracture...	ORPHA:739
Juvenile Nephropathic Cystinosis	Proximal tubulopathy, Corneal crystals, Hypophosphatemia, Elevated circulating creatinine concent...	ORPHA:411634
Waardenburg Syndrome, Type 2E	Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ...	OMIM:611584
Gaucher Disease, Type Iiic	Calcification of the aorta, Pancytopenia, Mitral valve calcification, Splenomegaly, Aortic valve ...	OMIM:231005
Cardiospondylocarpofacial Syndrome	Recurrent otitis media, Tarsal synostosis, Fused cervical vertebrae, Low-set ears, Short foot, Fu...	OMIM:157800
Mosaic Trisomy 9	Microphthalmia, Hypoplastic female external genitalia, Abnormal liver lobulation, Abnormal fallop...	ORPHA:99776
Alg9-Cdg	Enlarged kidney, Abnormal bone ossification, Hepatomegaly, Low-set, posteriorly rotated ears, Per...	ORPHA:79328
Mucolipidosis Type Iv	Corneal opacity, Gait disturbance, Abnormality of retinal pigmentation, Ataxia, EEG abnormality	ORPHA:578
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C...	OMIM:269400
Intellectual Disability, Buenos-Aires Type	Reduced bone mineral density, Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphol...	ORPHA:3079
Hurler Syndrome	Cranial hyperostosis, Recurrent otitis media, Hepatomegaly, Calvarial hyperostosis, Corneal opaci...	OMIM:607014
Immunodeficiency 46	Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Rothmund-Thomson Syndrome, Type 2	Short foot, Osteoporosis, Congenital hip dislocation, Short stature, Short palm, Underfolded heli...	OMIM:268400
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Charcot-Marie-Tooth Disease Type 1F	Limb ataxia, Steppage gait, Urinary incontinence, Decreased nerve conduction velocity, Inability ...	ORPHA:101085
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B...	OMIM:102700
Scheie Syndrome	Hepatomegaly, Abnormal nerve conduction velocity, Sensorineural hearing impairment, Limitation of...	ORPHA:93474
Oculocerebral Hypopigmentation Syndrome, Preus Type	Reduced bone mineral density, Abnormal hip bone morphology, Hearing impairment, Arachnodactyly, S...	ORPHA:2720
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Joint stiffness, Brachydactyly,...	OMIM:277600
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Pancytopenia	OMIM:224230
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Microphthalmia, Clitoral hypertrophy, Hypospadias, Retinal dysplasia, Anophthalmia, A...	ORPHA:2556
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Profound sensorineural hearing impairment, Microtia, first degree, Anteverted ears, Aplasia of th...	OMIM:610706
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c...	OMIM:217300
Wolf-Hirschhorn Syndrome	Chronic otitis media, Optic atrophy, Low-set, posteriorly rotated ears, Hypoplastic pubic ramus, ...	ORPHA:280
Gaucher Disease, Type I	Anemia, Avascular necrosis, Pancytopenia, Bone pain, Erlenmeyer flask deformity of the femurs, Sp...	OMIM:230800
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Osteoporosis, Delayed skeletal maturation, Leukopenia, Splenomegaly, Th...	OMIM:222700
Holoprosencephaly	Optic atrophy, Microphthalmia, Anophthalmia, Hypoplasia of penis, Abnormal antihelix morphology, ...	ORPHA:2162
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Reduced bone mineral density, Tarsal sclerosis, Sclerosis of finger phalanx, Shoul...	ORPHA:404454
Tbck-Related Intellectual Disability Syndrome	Broad finger, Sensorineural hearing impairment, 2-3 toe syndactyly, Broad toe, Osteoporosis, Dela...	ORPHA:488632
Isolated Cleft Lip	Chronic otitis media, Conductive hearing impairment, Abnormal Eustachian tube morphology	ORPHA:199302
Norrie Disease	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Sensorineural hearing impai...	OMIM:310600
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Osteoporosis, Leukopenia, Thrombocyto...	OMIM:127550
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Bowing of the long bones, Intrauterine growt...	ORPHA:2050
Vacterl With Hydrocephalus	Microphthalmia, Renal hypoplasia/aplasia, Abnormal fallopian tube morphology, Anophthalmia, Micro...	ORPHA:3412
Weill-Marchesani Syndrome 2	Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Elbow fl...	OMIM:608328
Mirage Syndrome	Hyperkalemia, Radial club hand, Hypospadias, Anemia, Recurrent urinary tract infections, Micropha...	OMIM:617053
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Renal hypoplasia/aplasia, Rectovaginal fistula, Anophthalmia, Perin...	ORPHA:2538
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Neonatal death, Urethral atresia	OMIM:314390
Immunodeficiency 32B	Anemia, Abnormal circulating IgG level, Sinusitis, Eosinophilia, Neutrophilia, Thrombocytopenia, ...	OMIM:226990
Meacham Syndrome	Blind vagina, Stillbirth, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermap...	OMIM:608978
Cockayne Syndrome Type 3	Premature coronary artery atherosclerosis, Aortic root aneurysm, Stroke, Cerebellar dentate nucle...	ORPHA:90324
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Osteopenia, Lateral displacement of the femoral head, Anemia, Abnorma...	OMIM:242900
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Short finger, Postnatal growth retardation, Recurrent otitis media,...	OMIM:608940
Occipital Horn Syndrome	Limited elbow extension, Genu valgum, Short clavicles, Limited knee extension, Osteoporosis, Pelv...	OMIM:304150
Joubert Syndrome 21	Optic atrophy, Megalopapilla, Anophthalmia, Sensorineural hearing impairment, Renal cyst, Ataxia,...	OMIM:615636
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Polycystic kidney dysplasia,...	OMIM:214110
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Clinodactyly of the 5th finger, Slender long bone, Cone-shaped epiphyses of the phalanges of the ...	OMIM:210730
Microphthalmia/Coloboma 12	Microphthalmia, Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, ...	OMIM:120200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Decreased proportion of CD3-posit...	ORPHA:276
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Delayed puberty, Short finger, Clinodactyly of the 5th finger, Lower-limb joint contracture, Sens...	ORPHA:459070
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatitis, Hypercalciuria, Testicular neoplasm, Renal hamartoma, Nephrolithiasis, Renal cyst, ...	ORPHA:99880
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Bone pain, Calcinosis cutis, Peripheral arterial stenosis, Pathol...	OMIM:259900
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyal...	ORPHA:91495
Singleton-Merten Syndrome 2	Osteopenia, Osteolytic defects of the phalanges of the hand, Aortic valve calcification	OMIM:616298
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Decreased cir...	ORPHA:169160
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Arthritis, Decreased circulating antibody level, Decreased circulati...	OMIM:616100
Bone Marrow Failure Syndrome 6	Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, ...	OMIM:618849
Dysostosis, Stanescu Type	Abnormal metaphysis morphology, Increased bone mineral density, Abnormal dental enamel morphology...	ORPHA:1798
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Recurrent fractures, Hyperphosphaturi...	OMIM:239200
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Genu valgum, Expanded metatarsals with widened m...	OMIM:182250
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Sensorineural hearing impairment, Cholestasis, Renal cortical microcysts, S...	OMIM:614866
Spondyloocular Syndrome	Osteopenia, Femur fracture, Arachnodactyly, Long fingers, Overlapping toe, Long toe, Thin bony co...	OMIM:605822
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Hip contracture, Reduced bone mineral density, Knee flexion contracture	OMIM:620232
Marfan Syndrome	Osteopenia, Limited elbow movement, Reduced bone mineral density, Dilatation of an abdominal arte...	ORPHA:558
Dietary Iron Overload Disease	Osteoporosis	ORPHA:139507
Primary Fanconi Renotubular Syndrome	Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho...	ORPHA:3337
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Rheumatoid arthritis, Keratoconjuncti...	ORPHA:79128
3Mc Syndrome	Postnatal growth retardation, Caudal appendage, Spina bifida occulta, Abnormal pinna morphology, ...	ORPHA:293843
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Charge Syndrome	Microphthalmia, Abnormal pinna morphology, Microtia, Bifid scrotum, Optic atrophy, Low-set, poste...	ORPHA:138
Anencephaly 2	Anophthalmia	OMIM:619452
Parathyroid Carcinoma	Pancreatitis, Hypercalciuria, Testicular neoplasm, Renal hamartoma, Nephrolithiasis, Renal cyst, ...	ORPHA:143
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Increased susceptibility to fractures	ORPHA:216866
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Osteoporosis, Hip dysplasia, Short foot, Small hand	ORPHA:398079
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Astigmatism, Protruding ear, Sensorineural hearing impairment, Chronic neutropen...	ORPHA:500095
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Osteoporosis, Increased susceptibility to fractures	ORPHA:189427
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma, Polycystic ovaries, Hy...	ORPHA:1643
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Synotia, Abnormal cranial nerve morphology, Low-set, posteriorly rotated ears, Narrow internal au...	ORPHA:990
Aneurysm-Osteoarthritis Syndrome	Osteochondritis dissecans, Dilatation of the cerebral artery, Vascular dilatation, Arterial tortu...	ORPHA:284984
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Osteopetrosis, Anemia, Pancytopenia, Cranial nerve compression, Short stature, Mac...	ORPHA:2785
7Q31 Microdeletion Syndrome	Postnatal growth retardation, Childhood onset sensorineural hearing impairment, Clinodactyly of t...	ORPHA:251061
Aicardi-Goutieres Syndrome 9	Anemia, Cerebral calcification, Osteoporosis, Hepatosplenomegaly, Basal ganglia calcification, He...	OMIM:619487
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase...	OMIM:308230
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
Prolidase Deficiency	Genu valgum, Reduced bone mineral density, Abnormal hip bone morphology, Abnormality of the middl...	ORPHA:742
Raine Syndrome	Mixed hearing impairment, Subperiosteal bone formation, Hydroureter, Increased bone mineral densi...	OMIM:259775
Fraser Syndrome 1	Bilateral microphthalmos, Clitoral hypertrophy, Abnormal middle ear morphology, Hypospadias, Rena...	OMIM:219000
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia	OMIM:612089
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Hearing impairment, Ataxia, Splenomegaly, R...	OMIM:272200
Peroxisome Biogenesis Disorder 1A (Zellweger)	Clitoral hypertrophy, Sensorineural hearing impairment, Prolonged neonatal jaundice, Renal cortic...	OMIM:214100
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Beta-Thalassemia	Reduced bone mineral density, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microc...	ORPHA:848
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Reticular Dysgenesis	Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Leukopenia	ORPHA:33355
Anterior Segment Dysgenesis 5	Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Wilson Disease	Cirrhosis, Difficulty walking, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Kayser-Fleischer ...	ORPHA:905
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Corneal opacity, Splenome...	ORPHA:79292
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Low-set ears, Microphallus, Hyperechogenic kidneys, Small scrotum, ...	OMIM:612651
Adult-Onset Autosomal Dominant Leukodystrophy	Spastic gait, Orthostatic hypotension, Abnormality of somatosensory evoked potentials, Sensorineu...	ORPHA:99027
Mulibrey Nanism	Absent frontal sinuses, Hypoplastic frontal sinuses, Enamel hypoplasia, Thickened cortex of long ...	OMIM:253250
Prader-Willi Syndrome	Osteopenia, Acromicria, Delayed puberty, Radial deviation of finger, Genu valgum, Short foot, Ost...	OMIM:176270
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Joint hypermobility, Recurrent fractures, Short stature	OMIM:619120
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a...	ORPHA:572
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Anemia, Arthritis, Increased B cell count, Inc...	OMIM:620376
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Iron deficiency anemia, Osteoporosis	ORPHA:309031
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Astigmatism, Macular degeneration, Flexion contracture, ...	OMIM:270200
Sponastrime Dysplasia	Short long bone, Mesomelia, Metaphyseal irregularity, Joint hypermobility, Flattened humeral epip...	ORPHA:93357
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Unilateral renal agenesis, Aniridia, Corneal opacity, Craniosynostosis	ORPHA:1064
Alpha-Mannosidosis, Infantile Form	Osteopenia, Cranial hyperostosis, Mixed hearing impairment, Astigmatism, Joint hypermobility, Pan...	ORPHA:309282
Post-Traumatic Pituitary Deficiency	Osteopenia, Delayed skeletal maturation, Osteoporosis of vertebrae	ORPHA:95619
Cerebrotendinous Xanthomatosis	Delayed somatosensory central conduction time, EEG with generalized slow activity, Optic disc pal...	OMIM:213700
Fabry Disease	Abnormal circulating lipid concentration, Reduced bone mineral density, Sensorineural hearing imp...	ORPHA:324
Proteus Syndrome	Enlarged kidney, Calvarial hyperostosis, Joint stiffness, Lymphangioma, Splenomegaly, Thymus hype...	ORPHA:744
Wilson Disease	Sunflower cataract, Portal fibrosis, Splenomegaly, High nonceruloplasmin-bound serum copper, Join...	OMIM:277900
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Hearing impairment, Optic atrophy, Cochlear degeneration	ORPHA:95433
Hereditary Fructose Intolerance	Hypermagnesemia, Jaundice, Hepatomegaly, Hyperuricemia, Hypophosphatemia, Chronic kidney disease,...	ORPHA:469
Cockayne Syndrome	Cerebral calcification, Congenital contracture, Cerebellar dentate nucleus calcification, Basal g...	ORPHA:191
Autosomal Dominant Keratitis	Bilateral microphthalmos, Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Micr...	ORPHA:2334
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Postnatal growth retardation, Anemia, Osteoporosis, Short stature, Splenomegaly	ORPHA:79240
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis...	ORPHA:1830
Aicardi-Goutières Syndrome	Calcification of the aorta, Moyamoya phenomenon, Aortic aneurysm, Chronic lymphatic leukemia, Cer...	ORPHA:51
Neuropathy, Hereditary Sensory And Autonomic, Type V	Painless fractures due to injury, Osteoarthritis, Septic arthritis, Recurrent fractures, Osteomye...	OMIM:608654
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Corneal opacity	OMIM:618961
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis, Corneal opacity, Low-set ears, Hearing impairment, Camptodac...	ORPHA:284160
Stromme Syndrome	Stillbirth, Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Microcornea, Low-set ears, ...	OMIM:243605
Leprechaunism	Enlarged kidney, Clitoral hypertrophy, Hepatomegaly, Hypokalemia, Long penis, Hypercalciuria, Enl...	ORPHA:508
Microphthalmia, Syndromic 2	Microphthalmia, Cupped ear, Hypospadias, Anophthalmia, Retinal detachment, Sensorineural hearing ...	OMIM:300166
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Microphthalmia, Corneal opacity, Low-set ears, Antecubit...	OMIM:619339
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e...	OMIM:610256
Adrenomyodystrophy	Delayed skeletal maturation, Reduced bone mineral density	ORPHA:977
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Urinary incontinence, Broad-based gai...	ORPHA:206448
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment	OMIM:217400
Bone Marrow Failure Syndrome 3	Aplastic anemia, Reduced bone mineral density, Neutropenia, Acute myeloid leukemia, Anemia, Pancy...	OMIM:617052
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Reduced bone mineral density, Abnormal pinna morphology, Delayed skeletal matura...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Reduced bone mineral density, Abnormal pinna morphology, Delayed skeletal matura...	ORPHA:99228
Monosomy X	Delayed puberty, Reduced bone mineral density, Abnormal pinna morphology, Delayed skeletal matura...	ORPHA:99226
Turner Syndrome	Delayed puberty, Reduced bone mineral density, Abnormal pinna morphology, Delayed skeletal matura...	ORPHA:881
Trisomy 10P	EEG with burst suppression, Low voltage EEG, EEG with focal spikes, Thumb contracture, Low-set ea...	ORPHA:171929
Prolactinoma	Osteopenia, Vertigo, Delayed puberty, Osteoporosis	ORPHA:2965
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Hepatomegaly, Ataxia, Splenomegaly	OMIM:230650
Pituitary Adenoma 4, Acth-Secreting	Osteoporosis	OMIM:219090
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, Low-set ears, Conducti...	OMIM:605627
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Abnormal hip bone morphology, Tibial bowing, Abnormally ossified vert...	ORPHA:175
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Osteoporosis, Flexion contracture, Hip dysplasia, Short foot, Small hand	ORPHA:398069
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Anemia, Abnormal erythrocyte enzyme concentration or activity, Osteoporosis, Sho...	ORPHA:264580
Porphyria, Congenital Erythropoietic	Osteopenia, Thrombocytopenia, Splenomegaly, Pathologic fracture, Hemolytic anemia, Reduced erythr...	OMIM:263700
Alg12-Cdg	Abnormal bone ossification, Clinodactyly of the 5th finger, Proximal placement of thumb, Partial ...	ORPHA:79324
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion	OMIM:608470
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibo...	OMIM:613011
Dpagt1-Cdg	Optic atrophy, Anemia, Hypsarrhythmia, Osteoporosis, Camptodactyly, Hearing impairment, Arachnoda...	ORPHA:86309
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Anophthalmia, Hypoplasia of penis, Hypogonadism, Cat...	ORPHA:2250
Microphthalmia/Coloboma 9	Macular coloboma, Microphthalmia, Ocular anterior segment dysgenesis, Retinal detachment, Microco...	OMIM:615145
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Generalized bone demineralization, Nephrotic syndrome, Mucopolysaccha...	OMIM:215250
Dermatitis Herpetiformis	Bone pain, Microcytic anemia, Recurrent fractures	ORPHA:1656
Congenital Disorder Of Deglycosylation 1	3-Methylglutaconic aciduria, Decreased sensory nerve conduction velocity, Hepatomegaly, Corneal u...	OMIM:615273
Atypical Werner Syndrome	Rocker bottom foot, Premature arteriosclerosis, Reduced bone mineral density, Osteolytic defects ...	ORPHA:79474
Short Syndrome	Abnormal anterior chamber morphology, Sensorineural hearing impairment, Corneal opacity, Megaloco...	ORPHA:3163
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Vestibular areflexia, Absent brainstem auditory responses	ORPHA:3240
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Unilateral renal agenesis, Anophthalmia, Optic nerve...	ORPHA:141099
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
14Q22Q23 Microdeletion Syndrome	Anophthalmia, Hearing impairment, Renal hypoplasia, Atresia of the external auditory canal, Optic...	ORPHA:264200
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Dicarboxylic aciduria, Hepatomegaly, Increased circulating free fatty acid level, Hypophosphatemi...	OMIM:605911
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Microcornea, Retinal nonattachment, Corneal opacity, Remnants of the hyaloid vasc...	OMIM:221900
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Increased circulating antibody level, Arthritis, Sinusitis, Thrombocytopenia, Splenomegal...	OMIM:617591
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Coronary artery atherosclerosis, Acute promyelocytic leukemia, Osteoporosis, Delayed ...	ORPHA:77293
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Trisomy 8P	Clinodactyly of the 5th toe, Abnormal middle ear morphology, Clinodactyly of the 5th finger, Clin...	ORPHA:264450
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Osteoporosis, Hip dysplasia, Short foot, Small hand	ORPHA:98754
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Broad ischia, Broad femoral neck, Short palm, Metaphyseal dysplasia, Sclero...	OMIM:619727
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased circulating antibody level...	OMIM:601495
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Carpenter Syndrome 1	Optic atrophy, Lambdoidal craniosynostosis, Hydroureter, External genital hypoplasia, Sensorineur...	OMIM:201000
Bartsocas-Papas Syndrome	Popliteal pterygium, Renal hypoplasia/aplasia, Hypoplastic male external genitalia, Corneal opaci...	ORPHA:1234
Loeys-Dietz Syndrome 3	Arterial tortuosity, Tortuous cerebral arteries, Aortic tortuosity, Arachnodactyly, Descending ao...	OMIM:613795
Immunodeficiency 59 And Hypoglycemia	Decreased proportion of class-switched memory B cells, Complete or near-complete absence of speci...	OMIM:233600
Multiple Myeloma	Osteopenia, Anemia, Bone pain, Splenomegaly, Pathologic fracture	ORPHA:29073
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Osteoporosis, Hip dysplasia, Short foot, Small hand	ORPHA:98793
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Astigmatism, Hypospadias, Unilateral renal agenesis, Retinal detachmen...	ORPHA:464311
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Calcification of the aorta, Anemia, Pancytopenia, Mitral valve calcification, Hepatosplenomegaly,...	ORPHA:2072
Mucopolysaccharidosis Type 7	Epiphyseal stippling, Corneal opacity, Mucopolysacchariduria, Joint stiffness, Splenomegaly, Hepa...	ORPHA:584
Charge Syndrome	Microphthalmia, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Lymphopenia...	OMIM:214800
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia, Corneal dystrophy, Megalocornea, Camptodactyly of finger, Cryptorchidism	ORPHA:1101
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Osteoporosis, Hip dysplasia, Short foot, Small hand	ORPHA:177904
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinusitis, Decreased circulating antibody level, Thrombocytopenia, Autoimmune hemolytic...	OMIM:616576
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Osteoporosis, Hip dysplasia, Short foot, Small hand	ORPHA:177901
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Microtia, Nephroblastoma, Ovarian serous cy...	ORPHA:276280
Mogs-Cdg	Optic atrophy, Sensorineural hearing impairment, Decreased circulating antibody level, Absent bra...	ORPHA:79330
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Patent duct...	OMIM:616866
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn...	OMIM:619767
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Steppage gait, Abnormal female external genitalia morphology, Hypoplasia of t...	ORPHA:168563
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density, Abnormal sex deter...	ORPHA:168558
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Joint stiffness, Camptodactyl...	OMIM:607015
Pierson Syndrome	Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Hypopro...	OMIM:609049
Acro-Renal-Ocular Syndrome	Sandal gap, Sensorineural hearing impairment, Short humerus, Hypoplasia of the ulna, Aganglionic ...	ORPHA:959
Focal Dermal Hypoplasia	Microphthalmia, Renal hypoplasia/aplasia, Corneal opacity, Low-set ears, Hypoplasia of the iris, ...	ORPHA:2092
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis	OMIM:613091
Colchicine Poisoning	Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagn...	ORPHA:31824
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypomagnesiuria, Hypocalciuria, Reduced rat...	ORPHA:405
Ogden Syndrome	Enlarged kidney, Recurrent otitis media, Jaundice, Macrovesicular hepatic steatosis, Iron deficie...	OMIM:300855
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Intrauterine growth retardation, Microtia, Reduced bone mineral density, Postnatal growth retarda...	OMIM:620510
Mosaic Trisomy 8	Abnormal antihelix morphology, Abnormal pinna morphology, Vesicoureteral reflux, Limitation of jo...	ORPHA:96061
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density, Abnormal sex deter...	ORPHA:289548
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Reduced bone mineral density, Anemia, Pancytopenia, Cerebral calcification, ...	OMIM:613658
Wagro Syndrome	Hypoplastic female external genitalia, Aniridia, Corneal opacity, Low-set ears, Decreased testicu...	OMIM:612469
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Chronic kidney disease, Unilateral renal dysplasia, Aplasia of the vagina, Sensorineur...	OMIM:146255
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Osteoporosis, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Joint ...	OMIM:225400
Incontinentia Pigmenti	Microphthalmia, Retinal detachment, Corneal opacity, Gait disturbance, Retinal hemorrhage, Campto...	ORPHA:464
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Astigmatism, Recurrent urinary tract infections, Enuresis nocturna, Low-set ears...	OMIM:615873
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Corneopalpebral synechiae, Vaginal atresia, Anophthalmia	OMIM:248450
Fryns Syndrome	Microphthalmia, Aganglionic megacolon, Hypospadias, Low-set, posteriorly rotated ears, Vesicouret...	ORPHA:2059
Williams Syndrome	Abnormal circulating lipid concentration, Chronic otitis media, Hypoplasia of penis, Sensorineura...	ORPHA:904
Congenital Hereditary Endothelial Dystrophy Type Ii	Sensorineural hearing impairment, Corneal stromal edema, Corneal opacity, Abnormal Descemet membr...	ORPHA:293603
De Barsy Syndrome	Osteopenia, Progressive cerebellar ataxia, Athetosis, Corneal opacity, Low-set ears, Bilateral se...	ORPHA:2962
Autosomal Dominant Progressive External Ophthalmoplegia	Hearing impairment, Facial diplegia, Facial palsy, Osteoporosis	ORPHA:254892
Primary Hyperoxaluria	Generalized osteosclerosis, Calcinosis cutis, Bone pain, Recurrent fractures	ORPHA:416
Neurofibromatosis Type 1	Osteopenia, Delayed puberty, Hearing abnormality, Genu valgum, Abnormal hip bone morphology, Slen...	ORPHA:636
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Low-set, posteriorly rotated ears, Corneal opacity, Vaginal neoplasm, Hearing imp...	ORPHA:1052
Hereditary Bullous Dystrophy, Macular Type	External genital hypoplasia, Corneal opacity, Decreased testicular size, Cataract, Cryptorchidism	ORPHA:1867
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting...	ORPHA:83461
Oculomaxillofacial Dysostosis	Aplasia/Hypoplasia affecting the eye, Camptodactyly of finger, Corneal opacity	ORPHA:1794
Primrose Syndrome	Superiorly displaced ears, Delayed puberty, Genu valgum, Reduced bone mineral density, Knee flexi...	OMIM:259050
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Hepatosple...	OMIM:615122
Microphthalmia, Syndromic 6	Microphthalmia, Lambdoidal craniosynostosis, Small scrotum, Anophthalmia, Microcornea, Low-set ea...	OMIM:607932
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Patent ductus arteriosus, Flared metaphysis, Increased bone mineral density, Coarse metaphyseal t...	OMIM:620558
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre...	ORPHA:98973
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Biliary atresia, Low-set ears, Polysplenia, Asplenia, Renal agenes...	OMIM:306955
Hallermann-Streiff Syndrome	Reduced bone mineral density, Clinodactyly of the 5th finger, Tracheomalacia, Recurrent fractures...	ORPHA:2108
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Mend Syndrome	Wide anterior fontanel, 2-3 toe syndactyly, Low-set ears, Abnormal auditory evoked potentials, Sh...	ORPHA:401973
Dyrk1A-Related Intellectual Disability Syndrome	Astigmatism, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Corneal opacity, Renal cyst, ...	ORPHA:464306
Histiocytoid Cardiomyopathy	Optic atrophy, Microphthalmia, Hepatomegaly, Corneal opacity, Congenital aphakia, Renal cyst, Meg...	ORPHA:137675
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Microphthalmia, Protruding ear, Retinal dysplasia, Anophthalmia, Retinal detachmen...	ORPHA:2526
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circulating IgE lev...	OMIM:602450
Roberts Syndrome	Radial deviation of finger, Proximal placement of thumb, Sandal gap, Abnormal pinna morphology, S...	ORPHA:3103
Isotretinoin-Like Syndrome	Aplasia/Hypoplasia of the inner ear, Microtia, Bilateral sensorineural hearing impairment, Atresi...	ORPHA:2306
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Stormorken Syndrome	Anemia, Hematuria, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asple...	OMIM:185070
Mucopolysaccharidosis, Type Vii	Recurrent otitis media, Hepatomegaly, Sensorineural hearing impairment, Corneal opacity, Limitati...	OMIM:253220
3Mc Syndrome 3	Penoscrotal hypospadias, Abnormal pinna morphology, Corneal opacity, Bifid scrotum, Auricular pit...	OMIM:248340
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Low-set ears, Camptodactyly of toe, Hearing impairment, Sclerocornea, C...	ORPHA:251038
Icf Syndrome	Anemia, Decreased circulating antibody level, Micrognathia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Absence of labia majora, Hypospadias, Broad-based gait, Optic nerve hypoplasia, Corneal dystrophy...	ORPHA:495875
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microphthalmia, Microcornea, Remnants of the hyaloid vascular system, Iris ...	ORPHA:231736
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Cutaneous a...	OMIM:600802
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Recurrent otitis media, Microtia, Corneal opacity, Keratitis, Posteriorly rotated ears, Conjuncti...	OMIM:602562
Poems Syndrome	Metaphyseal sclerosis, Increased circulating antibody level, Clubbing of fingers, Sclerosis of ha...	ORPHA:2905
Congenital Disorder Of Glycosylation, Type Iiw	Recurrent otitis media, Anemia, Low-set ears, Osteoporosis, Thrombocytopenia, Splenomegaly, Micro...	OMIM:619525
Agammaglobulinemia, X-Linked	Anemia, Decreased circulating IgE, B lymphocytopenia, T lymphocytopenia, Decreased circulating Ig...	OMIM:300755
Galloway-Mowat Syndrome 1	Optic atrophy, Microphthalmia, Low-set ears, Focal segmental glomerulosclerosis, Hypoplasia of th...	OMIM:251300
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun...	ORPHA:35078
Hepatoerythropoietic Porphyria	Osteopenia, Osteoporosis, Hemolytic anemia, Splenomegaly, Erythroid hyperplasia, Osteolysis	ORPHA:95159
Mucopolysaccharidosis Type 1	Optic atrophy, Chronic otitis media, Sensorineural hearing impairment, Abnormality of the tonsils...	ORPHA:579
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia, Abnormality of cartilage of external ear, Corneal opaci...	ORPHA:2399
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Tracheomalacia, Accessory spleen, Aplasia of the uterus...	OMIM:618280
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Decreased circulating antibody level, Leukocytosis	OMIM:618042
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Protruding ear, Corneal dystrophy, Microcornea, Hearing impairment, Sclerocornea,...	ORPHA:1806
46,Xy Sex Reversal 4	Distal symphalangism, Gonadal dysgenesis, Recurrent otitis media, Hypoplastic labia majora, Senso...	OMIM:154230
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal...	ORPHA:171673
Focal Dermal Hypoplasia	Optic atrophy, Microphthalmia, Ureteral duplication, Mixed hearing impairment, Aniridia, Anophtha...	OMIM:305600
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Enlarged kidney, EEG with burst suppression, Cardiomegaly	OMIM:261740
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Patellar hypoplasia, Craniosynostosis, Decreased circulating antibody...	ORPHA:3132
Branchiooculofacial Syndrome	Microphthalmia, Sensorineural hearing impairment, Microtia, Ectopic thymus tissue, Hypospadias, E...	OMIM:113620
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Spina bifida occulta, Broad femoral neck, Delayed skeletal maturation, Thickened cort...	ORPHA:488434
Fraser Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Hypospadias, Low-set, posteriorly rotated ears, Anophth...	ORPHA:2052
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Protruding ear, Sensorineural hearing impairment, Low-set ears, Camptodactyly, Sc...	OMIM:614230
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Low-set ears	ORPHA:89844
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform...	OMIM:619313
Congenital Erythropoietic Porphyria	Osteopenia, Osteoporosis, Reticulocytosis, Poikilocytosis, Hemolytic anemia, Anisocytosis, Leukop...	ORPHA:79277
Lysinuric Protein Intolerance	Osteopenia, Anemia, Hemophagocytosis, Osteoporosis, Delayed skeletal maturation, Leukopenia, Hepa...	ORPHA:470
Igg4-Related Aortitis	Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple...	ORPHA:449400
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Cystic Fibrosis	Hearing impairment, Osteoporosis, Osteopenia	ORPHA:586
Mietens Syndrome	Microcornea, Corneal opacity, Joint stiffness, Sclerocornea, Elbow ankylosis, Cataract	ORPHA:2557
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Hypotriglyceridemia, Retinal atrophy, Corneal opacity, Abnormality of retinal pig...	ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Microtia, Low-set ...	OMIM:614643
Tick-Borne Encephalitis	Limb pain, Stiff neck, Abnormal glossopharyngeal nerve morphology, Abnormal cranial nerve morphol...	ORPHA:297
Homozygous Familial Hypercholesterolemia	Calcification of the aorta, Premature arteriosclerosis, Premature coronary artery atherosclerosis...	ORPHA:391665
Oculoauricular Syndrome	Microphakia, Microphthalmia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, M...	OMIM:612109
Aspartylglucosaminuria	Abnormal cortical bone morphology, Arthritis, Mandibular prognathia, Joint stiffness, Carious tee...	ORPHA:93
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Postaxial hand ...	OMIM:304120
Mucolipidosis Iii Alpha/Beta	Hepatomegaly, Craniosynostosis, Increased serum beta-hexosaminidase, Limitation of joint mobility...	OMIM:252600
Primary Intestinal Lymphangiectasia	Anemia, Decreased proportion of CD3-positive T cells, Decreased circulating antibody level, Reduc...	ORPHA:90362
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:243150
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Sinusitis, Decreased circulating IgG level, Acute ly...	OMIM:208900
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Optic atrophy, Hypsarrhythmia, Pathologic fracture, EEG with burst suppression	OMIM:614231
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Abnormal cranial nerve morphology, Sensorineural hearing impairment, Microtia, Hearing impairment...	ORPHA:90024
Fucosidosis	Abnormality of the gallbladder, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Hearing imp...	ORPHA:349
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Hyperuricemia, Transient aminoaciduria, Hyperb...	OMIM:229600
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Iron deficiency anemia, Clubbing of fingers, Clubbing, Decreased circulating antibody lev...	OMIM:226300
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho...	OMIM:615607
Hurler Syndrome	Hepatomegaly, Abnormal nerve conduction velocity, Abnormality of the tonsils, Limitation of joint...	ORPHA:93473
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Hearing i...	OMIM:309801
Gomez-Lopez-Hernandez Syndrome	Craniosynostosis, Low-set ears, Posteriorly rotated ears, Ataxia, Opacification of the corneal st...	OMIM:601853
Oculocerebrocutaneous Syndrome	Abnormal pinna morphology, Corneal opacity, Hearing impairment, Cryptorchidism, Iris coloboma	ORPHA:1647
Microphthalmia With Limb Anomalies	Optic atrophy, Microphthalmia, True anophthalmia, Tarsal synostosis, Low-set, posteriorly rotated...	ORPHA:1106
Mgat2-Cdg	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet aggrega...	ORPHA:79329
Uremic Pruritus	Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo...	ORPHA:94059
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Sézary Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Abnormal immunoglobulin level	ORPHA:3162
Lowe Oculocerebrorenal Syndrome	Rickets, Joint contracture of the hand, Postnatal growth retardation, Genu valgum, Pathologic fra...	OMIM:309000
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ...	ORPHA:436159
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Limbal dermo...	OMIM:613001
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Osteomyelitis leading to amputation due to slow healing fractures, Short stature, Growth delay, P...	OMIM:256810
Neuroblastoma	Anemia, Bone pain, Thrombocytopenia, Pathologic fracture, Horner syndrome	ORPHA:635
Primary Biliary Cholangitis	Orthostatic hypotension, Increased circulating IgA level, Osteoporosis, Increased circulating IgM...	ORPHA:186
Norrie Disease	Optic atrophy, Microphthalmia, Protruding ear, Aplasia/Hypoplasia of the lens, Retinal detachment...	ORPHA:649
17Q11 Microdeletion Syndrome	Osteopenia, Delayed puberty, Diaphyseal dysplasia, Leukemia, Low-set ears, Osteoporosis, Short st...	ORPHA:97685
Exudative Vitreoretinopathy 1	Recurrent fractures	OMIM:133780
Blue Rubber Bleb Nevus	Pathologic fracture, Thrombocytopenia, Iron deficiency anemia	OMIM:112200
Treacher-Collins Syndrome	Abnormality of bone mineral density, Microtia, Abnormality of the middle ear, Hypoplasia of the t...	ORPHA:861
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Polysplenia, Hearing impairment, Two carp...	OMIM:312870
Hardikar Syndrome	Mild hearing impairment, Vertigo, Osteoporosis, Short stature, Growth delay, Hepatosplenomegaly, ...	OMIM:301068
Primary Sclerosing Cholangitis	Osteopenia, Osteoporosis, Hepatosplenomegaly, Splenomegaly, Dilated superficial abdominal veins	ORPHA:171
Ichthyosis, X-Linked	Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism	OMIM:308100
Dyskeratosis Congenita, X-Linked	Optic atrophy, Anemia, Acute myeloid leukemia, Pancytopenia, Osteoporosis, Short stature, Bone ma...	OMIM:305000
Distal Deletion 6P	Abnormal anterior chamber morphology, Corneal opacity, Low-set ears, Hypoplasia of the iris, Hear...	ORPHA:96125
Chromosome 6Pter-P24 Deletion Syndrome	Ocular anterior segment dysgenesis, Sensorineural hearing impairment, Axenfeld anomaly, Low-set e...	OMIM:612582
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia	OMIM:615190
Alveolar Echinococcosis	Liver abscess, Anemia, Increased circulating antibody level, Bone cyst, Abnormal spleen morpholog...	ORPHA:284
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Abnormal renal morphology, Biliary tract abnormality, Decreased number...	OMIM:137920
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Duane Retraction Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Spina bifida occulta, Aplasia/Hypoplasia of the th...	ORPHA:233
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Coarctation of aorta, Ascending aortic dissection, Aortic valve calcificati...	ORPHA:402075
Rodrigues Blindness	Protruding ear, Microphthalmia, Sclerocornea, Microcornea	OMIM:268320
Autosomal Recessive Cutis Laxa Type 1	Vascular dilatation, Dilatation of the ventricular cavity, Abnormal systemic arterial morphology,...	ORPHA:90349
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity, Hematuria, Proteinuria, Nephropathy	ORPHA:1765
Mucolipidosis Iii Gamma	Claw hand deformity, Shoulder contracture, Increased serum beta-hexosaminidase, Finger joint cont...	OMIM:252605
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
Cystic Echinococcosis	Increased circulating antibody level, Splenic cyst, Bone cyst, Peritoneal abscess, Eosinophilia, ...	ORPHA:400
Tsh-Secreting Pituitary Adenoma	Osteopenia, Vertigo, Delayed puberty, Osteoporosis	ORPHA:91347
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed skeletal maturation, Reduced bone mineral density, Osteoporosis	ORPHA:90796
Pseudo-Torch Syndrome 1	Jaundice, Hepatomegaly, Low-set ears, Thrombocytopenia, Splenomegaly, Cataract, Opacification of ...	OMIM:251290
Opsismodysplasia	Low-set ears, Posteriorly rotated ears, Hypophosphatemia, Renal phosphate wasting	OMIM:258480
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Tympanosclerosis	OMIM:240300
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ...	OMIM:615952
Cushing Disease	Avascular necrosis, Stroke, Lymphopenia, Leukocytosis, Osteoporosis, Decreased eosinophil count	ORPHA:96253
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Chime Syndrome	Acute leukemia, Abnormality of the kidney, Corneal opacity, Retinal coloboma, Hearing impairment,...	ORPHA:3474
Hereditary Folate Malabsorption	Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytopenia, Eosin...	ORPHA:90045
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Osteoporosis, Tracheomalacia	OMIM:203700
Cutis Marmorata Telangiectatica Congenita	Reduced bone mineral density, Arteriovenous malformation, Finger syndactyly, Short lower limbs, A...	ORPHA:1556
Epilepsy-Telangiectasia Syndrome	Short 5th finger, Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Williams-Beuren Syndrome	Osteopenia, Recurrent otitis media, Clinodactyly of the 5th finger, Sensorineural hearing impairm...	OMIM:194050
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Clitoral hypertrophy, Abnormal pinna morphology, Corneal opacity, Wrist flexion c...	OMIM:268300
Meckel Syndrome 14	Microphthalmia, Polycystic kidney dysplasia, Aplasia of the uterus, Low-set ears, Decreased calva...	OMIM:619879
Microphthalmia, Syndromic 1	Joint contracture of the hand, Microphthalmia, Ciliary body coloboma, Hydroureter, Hypospadias, A...	OMIM:309800
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Aplasia of the ovary, Endom...	ORPHA:3109
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Mosaic Trisomy 1	Microphthalmia, Renal cortical cysts, Abnormal pinna morphology, Elbow flexion contracture, Low-s...	ORPHA:1692
Tangier Disease	Hypertriglyceridemia, Anemia, Facial diplegia, Corneal opacity, Chronic noninfectious lymphadenop...	ORPHA:31150
Xeroderma Pigmentosum	Optic atrophy, Craniofacial hyperostosis, Pterygium, Sensorineural hearing impairment, Conjunctiv...	ORPHA:910
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Macrotia, Leukocoria...	ORPHA:2714
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma, Cryptorchidism	ORPHA:461
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Underdeveloped tragus, Cryptorchidism, Macr...	OMIM:610829
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity, Flexion contracture	OMIM:614594
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Anemia, Iron deficiency anemia, Foot joint contracture, Osteoporosis, Flexion contrac...	ORPHA:79408
Pyoderma Gangrenosum	Rheumatoid arthritis, Increased circulating antibody level, Myeloid leukemia	ORPHA:48104
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Decreased circulating antibody level, Anemia, Erythroid hypoplasia	OMIM:618165
Atelis Syndrome 2	Microphthalmia, Anemia, Low-set ears, Remnants of the hyaloid vascular system, Developmental cata...	OMIM:620185
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Conical incisor, Increased circulating IgA level, Abnormal circulating IgG ...	OMIM:300291
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Corneal opacity, Ataxia, Joint hypermobility, Hepatic steatosis, Optic atro...	ORPHA:3455
Smith-Lemli-Opitz Syndrome	Optic atrophy, Clitoral hypertrophy, Aganglionic megacolon, Abnormality of the gallbladder, Hypos...	ORPHA:818
Epithelial Recurrent Erosion Dystrophy	Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,...	ORPHA:293381
Keppen-Lubinsky Syndrome	Postnatal growth retardation, Flexion contracture, Increased susceptibility to fractures	ORPHA:435628
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Anemia, Anomalous origin of left subclavian artery, Osteoporosis, Patent ductus arter...	ORPHA:438213
Fryns Syndrome	Stillbirth, Microphthalmia, Ureteral duplication, Aganglionic megacolon, Hypospadias, Abnormal he...	OMIM:229850
Poland Syndrome	Acute leukemia, Finger symphalangism, Reduced bone mineral density, Spina bifida occulta, Aplasia...	ORPHA:2911
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Conductive hearing impairment, Astigmatism, Sclerocornea	ORPHA:2095
Thyrotoxic Periodic Paralysis	Hyperkalemia, Transient hypophosphatemia, Decreased urinary potassium, Episodic hypokalemia, Hypo...	ORPHA:79102
Insensitivity To Pain, Congenital, With Anhidrosis	Recurrent corneal erosions, Postural hypotension with compensatory tachycardia, Corneal ulceratio...	OMIM:256800
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Osteopenia, Non-caseating epithelioid cell granulomatosis, Macr...	ORPHA:227990
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity,...	OMIM:175780
Schinzel-Giedion Midface Retraction Syndrome	Short 1st metacarpal, Wide distal femoral metaphysis, Tibial bowing, Postaxial hand polydactyly, ...	OMIM:269150
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Corneal crystals, Proteinuria, Stage 5 chronic kidney disease, Retinal pigment epithelia...	OMIM:219900
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas...	OMIM:106210
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Microcornea, Hearing impairment, Opacification of the corneal stroma, Cryptorchidism...	OMIM:601499
46,Xy Sex Reversal 11	Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Vanishing testis, G...	OMIM:273250
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of ...	OMIM:614527
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Microphthalmia, Optic disc coloboma, Iris coloboma	OMIM:169550
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Joint stiffness, Hearing impa...	OMIM:253200
Peters Plus Syndrome	Optic atrophy, Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Low-set, posteriorly ...	ORPHA:709
Hennekam Syndrome	Supernumerary tooth, Retrognathia, Delayed eruption of teeth, Finger syndactyly, Decreased circul...	ORPHA:2136
Mucopolysaccharidosis Type 6	Chronic otitis media, Mucopolysacchariduria, Hearing impairment, Joint stiffness, Splenomegaly, O...	ORPHA:583
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Accessory spleen, Chronic decreased circulati...	OMIM:300972
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Granular Corneal Dystrophy Type Ii	Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s...	ORPHA:90797
Multiple Endocrine Neoplasia Type 1	Cranial nerve compression, Reduced bone mineral density, Osteolysis, Increased susceptibility to ...	ORPHA:652
Hutchinson-Gilford Progeria Syndrome	Reduced bone mineral density, Corneal ulceration, Prominent ear helix, Hypoplastic male external ...	ORPHA:740
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Fused cervical vertebrae, Low-set, posteriorly rotated ears, Sensorine...	ORPHA:3320
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Joint hypermobility, Eosinophilia, Recurrent cutaneous abscess formation, Craniosynos...	OMIM:147060
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Anemia, Osteoporosis	ORPHA:79404
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Good Syndrome	Anemia, Abnormal leukocyte morphology, Decreased circulating antibody level, Sinusitis, Thrombocy...	ORPHA:169105
Atopic Keratoconjunctivitis	Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ...	ORPHA:163934
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Corneal opacity, Anemia, Craniosynostosis	ORPHA:79396
Distal Deletion 19P	Decreased circulating antibody level, Hypoplasia of the maxilla, Arachnodactyly, Joint hypermobil...	ORPHA:96129
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Recurrent otitis media, Abnormal Eustachian tube morphology, Tracheomalacia, Lower-limb joint con...	ORPHA:513456
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Larsen Syndrome	Multiple carpal ossification centers, Tracheomalacia, Corneal opacity, Hearing impairment, Conduc...	OMIM:150250
Scheie Syndrome	Retinal degeneration, Corneal opacity	OMIM:607016
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Microphthalmia, Ambiguous genitalia, Ectopic kidney, Pte...	OMIM:263650
Lathosterolosis	Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Microcornea, He...	ORPHA:46059
Granular Corneal Dystrophy Type I	Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
Galactosialidosis	Visceromegaly, Conjunctival telangiectasia, Hearing impairment, Hepatosplenomegaly, Opacification...	OMIM:256540
Tyrosinemia Type 2	Corneal opacity, Ataxia	ORPHA:28378
46,Xy Partial Gonadal Dysgenesis	Delayed skeletal maturation, Osteoporosis	ORPHA:251510
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Corneal opacity, Osteolysis, Iris coloboma	ORPHA:2396
Ablepharon Macrostomia Syndrome	Abnormal female external genitalia morphology, Corneal erosion, Hypoplasia of penis, Microtia, Co...	ORPHA:920
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Osteopenia, Non-caseating epithelioid cell granulomatosis, Macr...	ORPHA:227982
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Decreased mobility 3rd-5th fingers, Megalocornea	OMIM:164900
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Hearing impairment, Small earlobe, Microphthalmia, Corneal opacity	ORPHA:364577
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Moebius Syndrome	Facial palsy, Corneal opacity, Hearing impairment, Arthrogryposis multiplex congenita, Hypogonado...	ORPHA:570
Autosomal Dominant Cutis Laxa	Osteopenia, Protruding ear, Unilateral renal agenesis, Corneal opacity, Low-set ears, Development...	ORPHA:90348
Fanconi Anemia, Complementation Group L	Microphthalmia, Anemia, Unilateral renal agenesis, Microtia, Aplasia of the uterus, Low-set ears,...	OMIM:614083
Craniofacial Microsomia 1	Microphthalmia, Ectopic kidney, Anophthalmia, Sensorineural hearing impairment, Microtia, Vesicou...	OMIM:164210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Microphthalmia, Retinal dysplasia, EEG abnormality, Retinal atrophy, Elevated circ...	OMIM:253280
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos, Clitoral hypertrophy, Hypospadias, Cardiomegaly, Absent...	ORPHA:3472
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Woodhouse-Sakati Syndrome	Osteopenia, Hypoplasia of the uterus, Streak ovary, Abnormal spermatogenesis, Hyperlipidemia, Bil...	ORPHA:3464
Ciliary Dyskinesia, Primary, 53	Cardiomegaly, Hypoplastic spleen, Polysplenia, Abdominal situs inversus	OMIM:620642
Van Den Ende-Gupta Syndrome	Camptodactyly of 2nd-5th fingers, Small earlobe, Elbow flexion contracture, Camptodactyly of toe,...	OMIM:600920
Mowat-Wilson Syndrome	Sensorineural hearing impairment, Delayed skeletal maturation, Syndactyly, Adducted thumb, Long t...	ORPHA:2152
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op...	ORPHA:98957
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Bifid uterus, Renal duplicatio...	ORPHA:83628
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Digeorge Syndrome	Recurrent otitis media, Anemia, Unilateral renal agenesis, Cholelithiasis, Hypocalcemia, Renal dy...	OMIM:188400
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Kindler Epidermolysis Bullosa	Anemia, Phimosis, Corneal opacity, Urethral stricture, Camptodactyly of finger, Flexion contractu...	ORPHA:2908
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Atresia of the external auditory canal, Opacification of the corneal stroma	OMIM:601356
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Sensorineural hearing impairment, Facial palsy, Remnants of the h...	ORPHA:637
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the kidney, Astigmatism, Hydroureter, Corneal erosion, Aganglionic megacolon, Corn...	ORPHA:2273
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Hematuria, Keratoconjunctivitis, Hearing impairment, Eosinophilia, Ca...	OMIM:158310
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ...	OMIM:258040
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hyperkalemia, Clitoral hypertrophy, Premature pubarche, Precocious puberty in...	ORPHA:90794
Sarcoidosis, Susceptibility To, 1	Increased circulating antibody level, Pancytopenia, Bone cyst, Arthritis, Clubbing, Splenomegaly,...	OMIM:181000
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Floating-Harbor Syndrome	Dislocated radial head, Short clavicles, Low-set ears, Short metacarpal, Cochlear malformation, S...	ORPHA:2044
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Abnormality of the kidney, Urinary incontinence, Bifid pen...	ORPHA:322
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Microtia, Vesicoureteral reflux, Bifid uterus, Crossed fused r...	OMIM:617466
Neuroocular Syndrome	Microphthalmia, Hyperextensibility of the finger joints, Microcornea, Stellate iris, Unilateral d...	OMIM:619539
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Wolf-Hirschhorn Syndrome	Abnormal sternal ossification, Hypospadias, Accessory spleen, Sensorineural hearing impairment, A...	OMIM:194190
Okamoto Syndrome	Urinary incontinence, Astigmatism, Abnormally large globe, Abnormal helix morphology, Low-set ear...	ORPHA:2729
Cushing Syndrome Due To Ectopic Acth Secretion	Decreased eosinophil count, Stroke, Leukocytosis, Osteoporosis, Lymphopenia	ORPHA:99889
Igg4-Related Submandibular Gland Disease	Increased circulating antibody level, Increased circulating IgG level, Increased circulating IgE ...	ORPHA:449432
Aspartylglucosaminuria	Pathologic fracture, Vacuolated lymphocytes, Short stature, Delayed skeletal maturation, Joint hy...	OMIM:208400
Hereditary Acrokeratotic Poikiloderma	Abnormal renal tubule morphology, Abnormal preputium morphology, Keratoconjunctivitis, Hearing im...	ORPHA:2907
Pmm2-Cdg	Osteopenia, Abnormal pinna morphology, Osteoporosis, Macrotia, Long fingers, Joint hypermobility,...	ORPHA:79318
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Sensorineural hearing impairment, Low-set ears, Corneal opacity, Posteriorly rota...	OMIM:608670
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus, ...	ORPHA:457284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Multicystic kidney dysplasia, Retinal dysplasia, Elevated circulating crea...	OMIM:615287
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia, Hydronephrosis, Block ve...	OMIM:271520
Familial Calcium Pyrophosphate Deposition	Arthritis, Calcification of cartilage, Limitation of joint mobility, Osteoarthritis	ORPHA:1416
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Heterochromia iridis, Sclerocornea, Lens coloboma, Catara...	ORPHA:42775
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma, Limitation of joint mobility, Hip osteoarthritis	OMIM:313400
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Corneal opacity	OMIM:620519
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Sclerocornea	OMIM:300952
Apolipoprotein A-I Deficiency	Abnormal circulating lipid concentration, Opacification of the corneal stroma, Decreased HDL chol...	ORPHA:425
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Astigmatism, Hydroureter, Ectopic kidney, Hypospadias, Abnormal pinna morph...	OMIM:135900
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Fatigable weakness of skeletal muscles, ...	ORPHA:284339
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Neurocardiofaciodigital Syndrome	Vesicoureteral reflux, Hearing impairment, Sclerocornea, Cataract, Optic disc pallor	OMIM:619869
Neu-Laxova Syndrome 1	Stillbirth, Microphthalmia, Pterygium, Low-set ears, Camptodactyly, Renal agenesis, Macrotia, Neo...	OMIM:256520
Hydrolethalus Syndrome 1	Stillbirth, Microphthalmia, Hypospadias, Abnormal vagina morphology, Accessory spleen, Abnormal p...	OMIM:236680
Ehlers-Danlos Syndrome, Vascular Type	Hypermobility of distal interphalangeal joints, Osteolytic defects of the phalanges of the hand, ...	OMIM:130050
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Sensorineural hearing impairment, Microti...	OMIM:107480
Limb Body Wall Complex	Abnormality of the kidney, Corneal opacity, Abnormality of the liver, Lens subluxation, Iris colo...	ORPHA:2369
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Oculoectodermal Syndrome	Astigmatism, Microcornea, Bladder exstrophy, Limbal dermoid, Opacification of the corneal stroma	OMIM:600268
Phocomelia, Schinzel Type	Hypoplasia of penis, Aplasia of the uterus, Humeroradial synostosis, Protruding ear, Cryptorchidism	ORPHA:2879
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Cryptorchidism, Low-set ears, Remnants of the hyaloid vascular system	OMIM:603671
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Craniosynostosis, Bifid uterus, Abnormal reproductive system morphology	ORPHA:1521
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Corneal neovascularization, Aganglionic megacolon, Unilateral renal a...	OMIM:308205
Vascular Ehlers-Danlos Syndrome	Protruding ear, Hypospadias, Hypokalemia, Uterine rupture, Aplasia/Hypoplasia of the earlobes, Ke...	ORPHA:286
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Long ear, Hypospadias, Anteriorly displaced genitalia, Abnormal pinna morphology, Elbow flexion c...	OMIM:276820
Yunis-Varon Syndrome	Protruding ear, Hypospadias, Absent sternal ossification, Small earlobe, Microtia, Sensorineural ...	OMIM:216340
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hearing impairment, Opacification of the corneal stroma, Tinnitus, Cardiomegaly	ORPHA:79280
Pallister-Killian Syndrome	Stillbirth, Aplasia of the upper vagina, Inability to walk, Hypospadias, Camptodactyly of 2nd-5th...	OMIM:601803
Limb-Mammary Syndrome	Protruding ear, Aplasia of the uterus, Chronic irritative conjunctivitis, Aplasia of the ovary	ORPHA:69085
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Loeys-Dietz Syndrome	Joint hypermobility, Craniosynostosis, Uterine rupture, Camptodactyly of finger	ORPHA:60030
Holoprosencephaly 2	Microphthalmia, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170

Histopathology

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

Phenotype	Allele	Zygosity	Life Stage
Femur - MPATH pathological entity term osteoporosis	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult
Sternum - MPATH pathological entity term osteoporosis	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult
Bone - MPATH pathological entity term osteoporosis	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early 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 Tnfrsf11b.

No publications found that use IMPC mice or data for Tnfrsf11b.

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MGI Allele	Allele Type	Produced
Tnfrsf11b^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Tnfrsf11b^tm1aNarl	KO first allele (reporter-tagged insertion with conditional potential)	ES Cells
Tnfrsf11b^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tnfrsf11b MGI:109587

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Tnfrsf11b mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data