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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
abnormal brain morphology	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal bone structure	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	3.08×10^-14
decreased locomotor activity	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	6.26×10^-05
decreased bone mineral content	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	4.23×10^-17
small spleen	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating phosphate level	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	1.15×10^-11
decreased body length	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	1.91×10^-15
blind uterus	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased grip strength	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	7.14×10^-05
decreased bone mineral density	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	4.64×10^-14
abnormal gait	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	9.35×10^-05
abnormal eye morphology	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	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
anophthalmia	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased prepulse inhibition	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	8.30×10^-05
corneal opacity	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	6.15×10^-07
abnormal auditory brainstem response	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	1.38×10^-05
abnormal skin morphology	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body 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 (1279 diseases)

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

Disease	Matching phenotypes	Source
Juvenile Paget Disease	Bowing of the long bones, Short stature, Recurrent fractures, Hearing impairment, Cranial hyperos...	ORPHA:2801
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr...	OMIM:239000
Familial Calcium Pyrophosphate Deposition	Arthritis, Osteoarthritis, Limitation of joint mobility, Calcification of cartilage	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	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ...	OMIM:128980
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Calcification Of Joints And Arteries	Coronary artery calcification, Iliac arterial calcification, Femoral arterial calcification, Tibi...	OMIM:211800
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment...	ORPHA:3232
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis, Hearing impairment	OMIM:615269
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Avascular Necrosis Of Femoral Head, Primary, 1	Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis	OMIM:608805
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Mazabraud Syndrome	Fibrous dysplasia of the bones, Bone pain, Recurrent fractures	ORPHA:57782
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	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	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Multiple Synostoses Syndrome 4	Otosclerosis, Tarsal synostosis	OMIM:617898
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis, Hearing impairment	OMIM:615271
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to frac...	OMIM:166220
Osteoporosis	Osteoporosis	OMIM:166710
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Forsythe-Wakeling Syndrome	Short stature, Delayed skeletal maturation, Osteoporosis, Growth delay, Low-set ears, Macrotia, T...	OMIM:613606
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib...	OMIM:616515
Extensor Tendons Of Finger Anomalies	Limitation of joint mobility, Osteoporosis, Camptodactyly of finger	ORPHA:3294
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Finger join...	OMIM:166200
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Toe syndactyly, Broad hallux, Congenital stapes ankylosis, Proximal/middle symp...	OMIM:184460
Symphalangism, Proximal, 1A	Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalange...	OMIM:185800
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Eiken Syndrome	Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnorm...	ORPHA:79106
Monosomy 5P	Low-set, posteriorly rotated ears, Finger syndactyly, Short stature, Recurrent fractures, Small h...	ORPHA:281
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger	ORPHA:2787
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo...	ORPHA:2790
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Otosclerosis 10	Otosclerosis	OMIM:615589
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Familial Expansile Osteolysis	Bowing of the long bones, Bone pain, Osteolysis, Conductive hearing impairment, Pathologic fractu...	OMIM:174810
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Winchester Syndrome	Osteolysis involving tarsal bones, Generalized osteoporosis, Broad metacarpals, Carpal osteolysis	OMIM:277950
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Posteriorly rotated ear...	OMIM:614727
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay	Osteopenia, Recurrent fractures	OMIM:619884
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ...	OMIM:619924
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis, Hearing impairment	OMIM:615267
Hereditary Sensory And Autonomic Neuropathy Type 2	Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis...	ORPHA:970
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	High-frequency sensorineural hearing impairment, Osteopenia, Recurrent fractures, Postnatal growt...	ORPHA:2324
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Short stature, Recurrent fractures, Sensorineural hearing impairment, Increased susce...	OMIM:615066
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Low-...	OMIM:228600
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Fractures of the long bon...	ORPHA:319195
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Arterial Calcification, Generalized, Of Infancy, 1	Coronary artery calcification, Ankylosis, Carotid artery calcification, Arterial stenosis, Genera...	OMIM:208000
Calciphylaxis	Ectopic ossification, Arterial calcification	ORPHA:280062
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Reduce...	OMIM:619795
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl...	ORPHA:2501
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout, Premature coronary artery atherosclerosis	OMIM:610947
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal limb bo...	ORPHA:2204
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Branchiootic Syndrome	Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte...	ORPHA:52429
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic...	OMIM:136300
Osteogenesis Imperfecta, Type Xix	Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p...	OMIM:301014
Hypergonadotropic Hypogonadism-Cataract Syndrome	Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Finger clinodactyly, Osteoporosis, Low-set ears, Coxa valga	ORPHA:2958
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Delayed skeletal maturation, Osteoporosis, Short stature	OMIM:618625
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
Prieto Syndrome	Coxa valga, Osteoporosis, Radial deviation of finger, Low-set ears, Clinodactyly	OMIM:309610
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens...	OMIM:617974
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Facial palsy, M...	ORPHA:53
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Short stature, Recurrent fractures, Camptodactyly of finger, Aplasia/Hypoplasia o...	ORPHA:3409
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Juvenile Paget Disease	Bowing of the long bones, Short stature, Recurrent fractures, Hearing impairment, Cranial hyperos...	ORPHA:2801
Multiple Synostoses Syndrome 1	Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg...	OMIM:186500
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Mixed hearing impairment, Severe short stature, Recurrent fractures, Osteoporosis, Fe...	OMIM:126550
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE leve...	ORPHA:98813
Solitary Bone Cyst	Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone cyst, Patho...	ORPHA:83468
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Microtia, Atresia ...	ORPHA:79113
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp...	ORPHA:73
Intellectual Developmental Disorder, Autosomal Dominant 2	Cholesteatoma	OMIM:614113
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Increased spinal bone density, Bone pain, Recurrent fractures	ORPHA:329475
Acrocraniofacial Dysostosis	Abnormality of the malleus, Triphalangeal thumb, Conductive hearing impairment, Spina bifida occu...	ORPHA:949
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Osteopenia, Pathologic fracture, Basal ganglia calcification, Bone cyst	OMIM:618193
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Cone-shaped epiphysis, Sensorineural hearing impairment, Osteoporosis, Short stature	ORPHA:71267
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Prominent superficial...	ORPHA:75508
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Hallux valgus, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Osteoarthritis, Limitation of joint mobility, Short metatarsal, Osteoporosis, A...	ORPHA:93351
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Osteoporosis, Elbo...	OMIM:259450
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia, Hearing impairment	OMIM:615266
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,...	OMIM:300614
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Tenosynovial Giant Cell Tumor	Abnormal hip joint morphology, Abnormality of the tympanic membrane, Abnormality of the auditory ...	ORPHA:66627
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Arterial calcification, Coronary artery calcification	OMIM:614473
Cranio-Osteoarthropathy	Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger...	ORPHA:1525
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Posteriorly rotated ears, Short stature, Reduced bone mineral density, Delayed ossification of ca...	OMIM:618392
Metatropic Dysplasia	Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Halberd-shaped pelvis...	ORPHA:2635
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Abnormal pelvic girdle ...	OMIM:610967
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Familial Hyperprolactinemia	Osteopenia, Osteoporosis	ORPHA:397685
Isolated Glycerol Kinase Deficiency	Osteoporosis	ORPHA:408
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ...	OMIM:166600
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, De...	OMIM:615559
Caffey Disease	Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi...	OMIM:114000
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc...	ORPHA:2788
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Warburg Micro Syndrome 1	Short stature, Overlapping toe, Optic atrophy, Osteoporosis, Low-set ears, Macrotia, Joint hyperm...	OMIM:600118
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, En...	OMIM:208230
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Short stature, Reduced bone mineral density, Abnormal pelvic g...	ORPHA:2370
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Bowing of the legs, ...	OMIM:613849
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Hereditary Arterial And Articular Multiple Calcification Syndrome	Abnormal vascular morphology, Arterial calcification, Coronary artery calcification, Arterial tor...	ORPHA:289601
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Mycetoma	Prominent superficial veins, Osteomyelitis, Bone cyst, Osteoporosis, Abnormal forearm bone morpho...	ORPHA:2583
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Osteoporosis, Growth delay, Microtia, Camptodactyly, Hearing impairment	OMIM:616006
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Idiopathic Juvenile Osteoporosis	Bone pain, Osteoporosis, Recurrent fractures	ORPHA:85193
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog...	ORPHA:1486
Variant Abeta2M Amyloidosis	Multiple bony cystic lesions, Cardiovascular calcification, Abnormal vascular morphology, Wrist p...	ORPHA:314652
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Increased bone mineral density, Cataract, Hyperphosphatemia, Conjunctivi...	ORPHA:36913
Branchiogenic-Deafness Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana...	OMIM:609166
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia	ORPHA:100024
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:600081
Basal Ganglia Calcification, Idiopathic, Childhood-Onset	Basal ganglia calcification, Calcification of the small brain vessels, Limb joint contracture, De...	OMIM:114100
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Bone pain, Osteolysis, Increa...	OMIM:602080
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Stapes ankylosis, Syndactyly, Short stature, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis...	OMIM:614701
Grant Syndrome	Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g...	ORPHA:2097
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Corneal opacity, Patchy osteosclerosis, E...	ORPHA:2323
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Rhyns Syndrome	Osteopenia, Radial bowing, Short stature, Sensorineural hearing impairment, Delayed skeletal matu...	OMIM:602152
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele...	ORPHA:1822
Neutropenia, Chronic Familial	Neutropenia, Clubbing of fingers, Clubbing, Increased circulating antibody level	OMIM:162700
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to...	OMIM:259410
Ck Syndrome	Micrognathia, Retrognathia, Malar flattening, Abnormal cortical bone morphology, Abnormal digit m...	OMIM:300831
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Short stature, Recurrent fractures, Arachnodac...	OMIM:614856
Pendred Syndrome	Congenital sensorineural hearing impairment, Cochlear malformation, Abnormal vestibular function	OMIM:274600
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300554
Coxoauricular Syndrome	Short stature, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal...	ORPHA:1508
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Accelerated skeletal maturation, Optic atrophy, Incre...	ORPHA:561
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment	OMIM:251800
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Recurrent fractures, Joint hyperflexibility, Decreased calvari...	ORPHA:2772
Perrault Syndrome 1	Sensorineural hearing impairment, Osteoporosis, Short stature	OMIM:233400
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis	ORPHA:2786
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Pseudohypoparathyroidism, Type Ic	Cataract, Osteoporosis, Hyperphosphatemia, Hypogonadism, Hypocalcemia, Low urinary cyclic AMP res...	OMIM:612462
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures...	OMIM:609220
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Arthrogryposis mult...	ORPHA:2771
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Posteriorly rotated ears, Patchy osteosclerosis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia,...	OMIM:241410
Hypocalcemia, Autosomal Dominant 1	Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Pseudohypoparathyroidism, Type Ia	Cataract, Osteoporosis, Subcutaneous ossification, Hyperphosphatemia, Hypogonadism, Low urinary c...	OMIM:103580
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Osteoporosis	OMIM:616033
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Angulated humerus, Bowing of the long bones, Short stature, Recurrent fractures, Rhiz...	OMIM:616229
Proteus Syndrome	Venous malformation, Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hypero...	OMIM:176920
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
Osteosarcoma	Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol...	ORPHA:668
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Alkaptonuria	Mitral valve calcification, Coronary artery calcification, Joint stiffness, Aortic valve calcific...	ORPHA:56
Multiple Enchondromatosis, Maffucci Type	Pathologic fracture, Multiple enchondromatosis	OMIM:614569
Sialidosis Type 2	Short stature, Splenomegaly, Flexion contracture, Osteoporosis, Hearing impairment	ORPHA:87876
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Recurrent fractures, Protrusio acetabuli, Coxa vara, Inc...	OMIM:610968
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Bowing of the arm, ...	OMIM:619131
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Dense metaphyseal bands, Short stature, Sensorineural hearing impairment, Slender lon...	ORPHA:50811
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Craniosynostosis, Osteoporosis, Joint hyperflexibility, Abnorma...	ORPHA:1515
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short stature, Postnatal growth retardation, Congenital sensorineural hearing impairment, Sensori...	ORPHA:73272
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
17Q24.2 Microdeletion Syndrome	Progressive conductive hearing impairment, Otosclerosis, Microtia, Recurrent otitis media	ORPHA:529962
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Metaphyseal widening, Osteoporosis, Flat acetabular roof, Cone-s...	OMIM:184260
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, He...	ORPHA:1782
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Hypoparathyroidism, Familial Isolated, 1	Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Postnatal growth retardation, Sensorineural ...	ORPHA:1435
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr...	OMIM:239000
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis, Genu valgum	OMIM:614880
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim...	OMIM:259440
Mucopolysaccharidosis Type 2	Otosclerosis, Papilledema, Decreased nerve conduction velocity, Sensorineural hearing impairment,...	ORPHA:580
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi...	ORPHA:3236
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:241530
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Delayed skeletal maturation, Femoral bowing, Short 4th metacarpal, Broad thumb,...	OMIM:619638
Usher Syndrome Type 1	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231169
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Progressive cerebellar ataxia, Ataxia, Corneal dystrophy, Corneal opacity	ORPHA:3177
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ...	OMIM:144750
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne...	ORPHA:2549
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Premature Aging Syndrome, Okamoto Type	Osteoporosis, Abnormal pinna morphology, Low-set ears	OMIM:601811
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,...	OMIM:617952
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Mucolipidosis Type Iii	Craniofacial hyperostosis, Short stature, Joint stiffness, Hearing abnormality, Reduced bone mine...	ORPHA:577
Hall-Riggs Syndrome	Metaphyseal dysplasia, Delayed skeletal maturation, Osteoporosis, Brachydactyly	OMIM:234250
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity, Hepatomegaly	ORPHA:2432
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Bone pain, Genu valgum, Abn...	ORPHA:93160
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Abnormal limb bone morphology, Limitation of joint mobility,...	ORPHA:85435
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Disproportionate short stature, Optic atr...	OMIM:224300
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Femur fracture, Facial palsy, Craniosynostosis, Pa...	OMIM:259700
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Protruding ear, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, H...	ORPHA:93315
Generalized Arterial Calcification Of Infancy	Cerebral calcification, Medial calcification of large arteries, Adrenal calcification, Abnormal r...	ORPHA:51608
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:277440
Spondylo-Ocular Syndrome	Short stature, Osteoporosis, Disproportionate short-trunk short stature, Abnormal antihelix morph...	ORPHA:85194
Pseudopseudohypoparathyroidism	Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly	OMIM:612463
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ...	OMIM:251450
Rhyns Syndrome	Osteopenia, Abnormal acetabulum morphology, Hypoplastic ilia, Delayed skeletal maturation, Abnorm...	ORPHA:140976
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaundice, Renal cyst, Hepatosplenom...	OMIM:619902
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Enlarged interphalangeal joints, Narrow small joints of the hand, Broad femor...	ORPHA:1159
Grange Syndrome	Syndactyly, Patent ductus arteriosus, Arterial stenosis, Increased susceptibility to fractures, S...	ORPHA:79094
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:603909
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Craniosynostosis, Eosinophilia, Joint hypermobility, Cutaneous a...	OMIM:147060
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Camptodactyly of finger, Osteoporosis, Intrauterine growth retardation, Abnormalit...	ORPHA:48431
Meckel Syndrome, Type 8	Anophthalmia, Polycystic kidney dysplasia, Low-set ears, Ambiguous genitalia, Microphthalmia, Hyp...	OMIM:613885
Pseudopseudohypoparathyroidism	Ectopic ossification, Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Proteinuria, Corneal opacity, Inability to walk, Stage 5 chronic...	OMIM:166300
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Bowing of the long bones, Congenital hip dislocation, Short stature, Shoulder fl...	OMIM:255800
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy, Recurrent fractures	ORPHA:2773
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Splenomegaly, Recurrent fractures, Anemia	OMIM:618107
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Papilledema, Camptodactyly of finger, Sensorineural hearing impairment, Flexion con...	ORPHA:217085
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo...	OMIM:611490
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Cataract, Diaphyseal sclerosis, Hyperphosphatemia, Co...	ORPHA:94089
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Abnormal metaphysis morphology, Short stature, Recurrent fractures	ORPHA:417
Analbuminemia	Patent ductus arteriosus, Osteoporosis	OMIM:616000
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Papilledema, Camptodactyly of finger, Sensorineural hearing impairment, Flexion con...	ORPHA:217093
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Hypoplastic ilia, Flare...	OMIM:615349
Cleidocranial Dysplasia	Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Chronic otitis media, Spina...	ORPHA:1452
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Coxa vara, Short femoral n...	ORPHA:2848
Congenital Bile Acid Synthesis Defect Type 1	Splenomegaly, Osteoporosis	ORPHA:79301
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:264700
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Medial calcification of large arteries, Autoimmune throm...	ORPHA:391487
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Short thumb, Osteoporosis, Growth delay, Increased mean corpuscula...	OMIM:612562
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Papilledema, Developmental cataract, ...	OMIM:127000
19P13.3 Microduplication Syndrome	Posteriorly rotated ears, Long fingers, Osteoporosis, Hip dislocation, Growth delay, Hip dysplasi...	ORPHA:447980
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micro...	ORPHA:2484
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia	OMIM:620366
Indolent Systemic Mastocytosis	Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast...	ORPHA:98848
Intermediate Nemaline Myopathy	Facial palsy, Multiple prenatal fractures, Flexion contracture, Facial diplegia, Low-set ears, Ar...	ORPHA:171433
Dent Disease 1	Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300009
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Osteoporosis, Disproportionat...	ORPHA:94068
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Arteriovenous malformation, Recurrent fractures, Reduced bone mineral density	ORPHA:137608
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys...	ORPHA:289157
Linear Verrucous Nevus Syndrome	Cataract, Abnormality of the kidney, Reduced bone mineral density, Abnormal cornea morphology, Hy...	ORPHA:2611
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Microphthalmia, Anophthalmia, Iris coloboma	OMIM:616428
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Schinzel-Giedion Syndrome	Tibial bowing, Myeloid leukemia, Wide anterior fontanel, Hypsarrhythmia, Abnormal cochlea morphol...	ORPHA:798
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Postnatal growth retar...	OMIM:614732
Congenital Disorder Of Glycosylation, Type Iiy	Delayed skeletal maturation, Hip subluxation, Reduced bone mineral density	OMIM:620200
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis	OMIM:618234
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Cataract, Hypergonadotropic hypogonadism, Band kerato...	ORPHA:79443
Blue Diaper Syndrome	Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Hyperphosphaturia, Osteomalacia, Increased circulating beta-C-terminal telopeptide...	ORPHA:157215
Hyperzincemia With Functional Zinc Depletion	Vasculitis, Osteoporosis	OMIM:601979
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Coxa valga, Sensorineural hearing impairment, Flexion contracture, Abnormalit...	OMIM:214150
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Intraventricular hemorrhage, Osteoporosis, Hip ...	OMIM:616507
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Clinodactyly, Osteoporosis	OMIM:614838
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint...	ORPHA:2619
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le...	OMIM:615513
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i...	ORPHA:371428
Mohr-Tranebjaerg Syndrome	Progressive sensorineural hearing impairment, Postlingual sensorineural hearing impairment, Incre...	OMIM:304700
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Methylcobalamin Deficiency Type Cble	Syndactyly, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Osteoporosis, Increase...	ORPHA:2169
Autosomal Dominant Hypocalcemia	Optic atrophy, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Fatigable weakness...	ORPHA:428
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Microphthalmia, Syndromic 12	Anophthalmia, Cryptorchidism, Bicornuate uterus, Neonatal death, Microphthalmia	OMIM:615524
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Cranial nerve compression, Osteolysis, Increased susceptibility to fractures, Abno...	ORPHA:52430
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Posteriorly rotated ears, Fractured radius, Decreased fibular diameter, ...	OMIM:616897
Immunodeficiency 50	Lymphopenia, Neutropenia, Decreased circulating antibody level	OMIM:300988
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko...	ORPHA:77297
Trisomy 13	Anophthalmia, Cataract, Cryptorchidism, Sensorineural hearing impairment, Abnormality of the uret...	ORPHA:3378
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Reduced bone mine...	OMIM:619489
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex...	OMIM:608836
Craniosynostosis And Dental Anomalies	Hallux valgus, Stapes ankylosis, Papilledema, Short stature, Absent malleus, Sagittal craniosynos...	OMIM:614188
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Bone pain, Osteoporosis, Osteolysis,...	ORPHA:98850
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra...	OMIM:271225
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Sensorineural hearing impairment, Osteoporosis, Increased suscepti...	ORPHA:90354
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy	ORPHA:1490
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Short stature, Recurrent fractures, Sensorineural hearing impairment, Rickets,...	OMIM:268315
Cystinosis	Renal insufficiency, Proteinuria, Corneal opacity, Portal hypertension, Rickets, Renal tubular dy...	ORPHA:213
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Hallux valgus, Prominent superficial veins, Carotid artery stenosis, Osteoarthritis, ...	OMIM:618000
Cantu Syndrome	Broad hallux, Short hallux, Coxa valga, Metaphyseal widening, Delayed skeletal maturation, Osteop...	OMIM:239850
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Cryptorchidism, Neonatal epiphyseal stippling, Optic atrophy, Blue iri...	OMIM:101800
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Vascular granular osmiophilic material deposition, Arteriosclerosis, Stroke-like episode, Stroke,...	ORPHA:199354
Niemann-Pick Disease, Type A	Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Microcytic anemia, Splenomegal...	OMIM:257200
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Metaphyseal chondrod...	OMIM:156400
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Alkaptonuria	Vertebral fusion, Mitral valve calcification, Coronary artery calcification, Aortic valve calcifi...	OMIM:203500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fing...	OMIM:612394
Menkes Disease	Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Intracranial hemorrhage	OMIM:309400
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Hutchinson-Gilford Progeria Syndrome	Premature coronary artery atherosclerosis, Osteolysis, Generalized osteoporosis, Precocious ather...	OMIM:176670
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration	OMIM:603233
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Hypophosphatasia, Infantile	Craniosynostosis, Bowing of the legs, Increased susceptibility to fractures, Intracranial hemorrh...	OMIM:241500
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Nasu-Hakola Disease	Cerebral calcification, Bone cyst, Bone pain, Limitation of joint mobility, Reduced bone mineral ...	ORPHA:2770
Congenital Disorder Of Glycosylation, Type Iin	Osteopenia, Short stature, Craniosynostosis, Joint hypermobility, Hearing impairment	OMIM:616721
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Short stature, Osteoporosis, Growth delay, Delayed puberty	ORPHA:369
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Inability to walk, Prominent ear helix, Multifocal epileptiform discharges, Hypsarr...	ORPHA:411986
Immunodeficiency, Common Variable, 11	Clubbing of fingers, Decreased circulating IgG level, Decreased proportion of class-switched memo...	OMIM:615767
Hjv Or Hamp-Related Hemochromatosis	Osteoporosis	ORPHA:79230
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sens...	ORPHA:2789
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Infantile Systemic Hyalinosis	Osteopenia, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joint stiffness, Osteopor...	ORPHA:2176
Achondrogenesis Type 1A	Short palm, Recurrent fractures, Short foot, Abnormal enchondral ossification	ORPHA:93299
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of...	OMIM:212050
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Bilateral microphthalmos, Developmental cataract, Anemia, Cortical thickening of lon...	ORPHA:93325
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Flared metaphysis, Short middle ph...	OMIM:156510
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci...	OMIM:620282
Shashi-Pena Syndrome	Short metacarpal, Posteriorly rotated ears, Accelerated skeletal maturation, Cupped ear, Osteopor...	OMIM:617190
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Geroderma Osteodysplastica	Recurrent fractures, Osteoporosis, Hip dislocation, Joint hyperflexibility, Abnormal epiphysis mo...	ORPHA:2078
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Decreased specific antibody response to polysaccharide vac...	OMIM:241600
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia, Ataxia, Cryptorchidism, Flexion contracture, Developmental cataract, ...	ORPHA:90322
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Inability to walk, Splenomegaly, Thrombocytopenia, Optic atrophy, Neut...	OMIM:617303
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se...	OMIM:601455
Hypercholanemia, Familial, 2	Osteopenia	OMIM:619256
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Pycnodysostosis	Joint laxity, Increased bone mineral density, Rhizomelia, Generalized osteosclerosis, Small hand,...	ORPHA:763
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Pathologic fracture, Basal ganglia calcification, Bone cyst	OMIM:221770
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Ataxia, Absent brainstem auditory r...	ORPHA:90321
Gaucher Disease, Type Iii	Vascular calcification, Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Pachydermoperiostosis	Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, ...	ORPHA:2796
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal metaphysis morphology, ...	ORPHA:436
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Cataract, Hypergonadotropic hypogonadism, Hyperphosph...	ORPHA:79444
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Short stature, Camptodactyly of finger, Proximal placement of ...	ORPHA:1488
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme...	ORPHA:52368
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Joint ...	ORPHA:1901
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets, Hearing impairment	OMIM:560000
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Low-set ears, Short...	OMIM:312150
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis,...	OMIM:190351
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Accelerated skeletal maturation, Shoulder dislocation, Prominent antitragus, Dislocat...	OMIM:245600
Lateral Meningocele Syndrome	Vertebral fusion, Posteriorly rotated ears, Short stature, Abnormality of the middle ear ossicles...	OMIM:130720
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Absent ossification of calvaria, Mult...	OMIM:166210
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Tibial bo...	OMIM:231070
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia	ORPHA:1980
Autosomal Recessive Cutis Laxa Type 2A	Congenital hip dislocation, Postnatal growth retardation, Wide anterior fontanel, Increased susce...	ORPHA:357058
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ...	OMIM:602088
Greenberg Dysplasia	Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomelia, Hypoplasi...	OMIM:215140
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Pontocerebellar Hypoplasia, Type 2E	Short stature, Flexion contracture, Optic atrophy, Osteoporosis, Large earlobe	OMIM:615851
Maffucci Syndrome	Short stature, Recurrent fractures, Bone pain, Osteolysis, Growth delay, Multiple enchondromatosis	ORPHA:163634
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Cerebral calcification, Recurrent fractures	OMIM:620368
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l...	OMIM:618987
Galactosialidosis	Corneal opacity, Hearing impairment	ORPHA:351
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Osteoporosis	ORPHA:529665
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Hematuria, Microphtha...	ORPHA:1473
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM...	OMIM:619281
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Abnormal epiphysis morphology, Neutropenia, Enamel hypoplasia, D...	ORPHA:2643
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Short stature, Aplastic anemia, Avascular necrosis of the capital femoral epiphysis...	OMIM:613990
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio...	ORPHA:94090
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Recurrent fractures, Joint hypermobility, Reduced bone mineral density	OMIM:619115
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,...	ORPHA:289176
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent...	OMIM:617765
H Syndrome	Histiocytosis, Hypertriglyceridemia, Abnormality of the kidney, Recurrent fractures, Microcytic a...	ORPHA:168569
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide anterior fontanel, Patent ductus arteriosus, Abnormal cortical bone morphology, Double outle...	OMIM:614886
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Eosinophilia, Increased circula...	ORPHA:2314
Paget Disease Of Bone 6	Osteoarthritis, Bone pain, Recurrent fractures, Coronary artery atherosclerosis	OMIM:616833
X Small Rings	Joint laxity, Toe syndactyly, Tapered finger, Osteoporosis, 2-3 toe syndactyly, Upper limb underg...	ORPHA:96201
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Broad hallux, Postnatal growth retardation, Slender finger, Generalized joint laxity,...	ORPHA:251028
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Pseudoxanthoma Elasticum, Forme Fruste	Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag...	OMIM:177850
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati...	ORPHA:94093
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Low-set ears, Short...	OMIM:253290
Xp21 Deletion Syndrome	Joint laxity, Osteoporosis, Reduced bone mineral density, Growth delay, Finger clinodactyly, Recu...	ORPHA:261476
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia of the pancr...	ORPHA:2470
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Recurrent fractures,...	ORPHA:140
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Short stature, Sensorineural hearing impairment, Delayed skeletal maturation, Genu va...	OMIM:608154
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Cerebral calcification, Metaphyseal sclerosis, Thrombocytop...	OMIM:612199
Dent Disease	Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin...	ORPHA:1652
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Roifman Syndrome	Hip contracture, Epiphyseal dysplasia, Short stature, Eosinophilia, Postnatal growth retardation,...	ORPHA:353298
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Posteriorly rotated ears, Prominent ear helix, Flexion contracture, Osteoporosis, Elb...	OMIM:614438
Mucopolysaccharidosis, Type Ivb	Joint laxity, Joint stiffness, Epiphyseal deformities of tubular bones, Coxa valga, Metaphyseal w...	OMIM:253010
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Vertigo, Osteoarthritis, Osteoporosis	ORPHA:77296
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy...	ORPHA:157965
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum	OMIM:619073
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Short stature, Osteom...	ORPHA:249
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Posteriorly rotated ears, Corneal opacity, Cataract, Cryptorch...	ORPHA:899
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym...	ORPHA:169079
Peroxisome Biogenesis Disorder 3B	Sensorineural hearing impairment, Osteoporosis	OMIM:266510
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Gómez-López-Hernández Syndrome	Ataxia, Low-set ears, Corneal opacity	ORPHA:1532
Osteoglophonic Dysplasia	Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar...	OMIM:166250
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Postnatal growth retardation, Sensorineural hearing impairment, Delaye...	OMIM:608747
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul...	OMIM:308990
Stuve-Wiedemann Syndrome 1	Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, Sh...	OMIM:601559
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp...	ORPHA:2741
Immunodeficiency 12	Short stature, Abnormal lymphocyte count, Delayed skeletal maturation, Clubbing, Osteoporosis, Gr...	OMIM:615468
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Abnormal earlobe morphology, Bifid femur, Increased susce...	ORPHA:2769
Arthrogryposis, Distal, Type 2A	Hip contracture, Flexion contracture of finger, Recurrent fractures, Abnormal auditory evoked pot...	OMIM:193700
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, Hyperca...	OMIM:613388
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinos...	ORPHA:99879
Ovarian Dysgenesis 8	Osteoporosis	OMIM:618187
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Patent ductus arteriosus, Limitation of joint mobility, Clubbing, Osteoporosis, Osteo...	OMIM:259100
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Hypospadias, Cryptorchidism, Flexion contracture, Developmental cataract, EEG ab...	OMIM:618815
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2235
Isolated Cleft Lip	Conductive hearing impairment, Chronic otitis media, Abnormal Eustachian tube morphology	ORPHA:199302
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Hearing impairment, Limb pain, Abnormality of the autonomic nervous system, Pathol...	ORPHA:36386
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Coronary artery atherosclerosis, Marke...	ORPHA:785
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Avas...	ORPHA:83451
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Arachnodactyly, Recurrent fractures, Craniosynostosis, Joint s...	ORPHA:83
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Broad distal pha...	OMIM:609465
Mucopolysaccharidosis, Type Iva	Joint laxity, Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal widening, Dispropo...	OMIM:253000
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Increased susceptibility to fractures, Decreased ci...	OMIM:619752
Glycogen Storage Disease Due To Acid Maltase Deficiency	Transient ischemic attack, Thoracic aortic aneurysm, Abnormal internal carotid artery morphology,...	ORPHA:365
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Delayed skeletal maturation, Osteoporosis, Multifocal epilept...	OMIM:615398
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,...	OMIM:300400
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Ruijs-Aalfs Syndrome	Down-sloping shoulders, Delayed skeletal maturation, Elbow flexion contracture, Osteoporosis, Cli...	OMIM:616200
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Mullegama-Klein-Martinez Syndrome	Short stature, Facial palsy, Sensorineural hearing impairment, Absent stapes, Microtia, Polydacty...	OMIM:301022
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Osteogenesis Imperfecta, Type Vi	Joint laxity, Protrusio acetabuli, Coxa vara, Increased susceptibility to fractures	OMIM:613982
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Bowing of the long bones, Camptodactyly of finger, Rec...	ORPHA:3206
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipi...	OMIM:232220
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Sensorineural hearing impairment, Joint contracture, Osteoporosis	OMIM:615381
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Reduced ...	OMIM:620210
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop...	OMIM:300555
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Renal hypoplasia, Hors...	OMIM:601186
Mccune-Albright Syndrome	Craniofacial hyperostosis, Polyostotic fibrous dysplasia, Pathologic fracture, Hearing impairment	OMIM:174800
Beckwith-Wiedemann Syndrome	Otosclerosis, Wide anterior fontanel, Abnormal earlobe morphology, Anterior creases of earlobe, P...	ORPHA:116
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Tapered finge...	OMIM:300998
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Osteolysis, Anemia	ORPHA:158014
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R...	ORPHA:2614
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ...	OMIM:112240
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Retrognathia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocyto...	OMIM:614069
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Arachnodactyly, Limitation of joint mobility, Osteoporosis, Stroke, Generalized osteoporosis	OMIM:236200
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Microcorn...	ORPHA:139471
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma...	OMIM:134600
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Recurrent fractures, Abnormal toe morphology, Abnormal finger morphology, Coarctation...	OMIM:163200
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse...	ORPHA:536471
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Werner Syndrome	Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral density, Subcutaneous calcification, ...	OMIM:277700
Alpha-Mannosidosis	Craniofacial hyperostosis, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Arthritis, Abno...	ORPHA:61
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Arachnodactyly, Osteoporosis, Slen...	ORPHA:536467
Richards-Rundle Syndrome	Reduced bone mineral density, Joint stiffness, Hearing impairment	ORPHA:1399
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna...	OMIM:613848
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Craniosynostosis, Recurrent...	ORPHA:251004
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Lowry-Maclean Syndrome	Osteopenia, Craniosynostosis, Osteoporosis, Growth delay, Low-set ears, Intrauterine growth retar...	ORPHA:2409
Spinocerebellar Ataxia-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Short stature, Optic atrophy, Reduced bone mineral density, Jo...	ORPHA:1185
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Accelerated skeletal maturatio...	ORPHA:1517
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Decreased proportion of memory B cells,...	OMIM:618048
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint laxity, Long toe, Bowing of the long bones, Short stature, Recurrent fractures,...	OMIM:130070
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased...	OMIM:614470
Distal Renal Tubular Acidosis	Hemolytic anemia, Short stature, Osteomalacia, Sensorineural hearing impairment, Rickets, Bone pa...	ORPHA:18
Propionic Acidemia	Pancytopenia, Cerebellar hemorrhage, Osteoporosis, Anemia, Neutropenia, Thrombocytopenia	OMIM:606054
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Fractures ...	ORPHA:464329
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Mixed hearing impairment, Thickened helices, Abnormality of the middle...	ORPHA:581
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Ataxia, Corneal opacity, Cataract, Decreased ne...	ORPHA:812
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Conductive hearing impairment, Short stature, Rhizomelia, Squared iliac bones, Giant ...	OMIM:611209
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Bone pain, Osteolysis, Hearing impairment	OMIM:167250
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec...	OMIM:607594
Crouzon Syndrome	Optic atrophy, Multiple suture craniosynostosis, Conductive hearing impairment, Narrow internal a...	ORPHA:207
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Mitral valve calcification, Thrombocytopenia, Delay...	ORPHA:77261
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Abnormal pinna morphology, Recurrent fractures, Short st...	OMIM:309583
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Protrusio acetabuli, Femoral retroversion, Bowing of the legs, M...	OMIM:610682
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardation, Metaphyseal widening...	OMIM:608940
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue...	OMIM:194080
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Ataxia, Abnormality o...	ORPHA:1764
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Anomalous origin of left coronary artery from the pulmonary artery, Delayed skeletal ...	ORPHA:2326
Microcephalic Primordial Dwarfism, Montreal Type	Low-set, posteriorly rotated ears, EEG abnormality, Severe short stature, Reduced bone mineral de...	ORPHA:2617
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Focal segmental g...	OMIM:232200
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Adamantinoma	Pathologic fracture, Bone pain	ORPHA:55881
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Sensorineural hearing im...	ORPHA:93476
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bowing, Subperiosteal bo...	OMIM:618188
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Cole-Carpenter Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Lambdoidal craniosy...	OMIM:616294
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th...	OMIM:208540
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Delayed skeletal maturation, Reduced bone mineral density	ORPHA:172
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Fibular Hemimelia	Joint laxity, Anophthalmia, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitatio...	ORPHA:93323
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v...	OMIM:620099
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Posteriorly rotated ears, Short fifth metat...	ORPHA:264450
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Osteoporosis	OMIM:615830
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Reduced bone mineral density, Genu valgum, Microtia, Severe se...	ORPHA:2983
Perrault Syndrome 4	Progressive sensorineural hearing impairment, Osteoporosis	OMIM:615300
Alpha-Mannosidosis, Adult Form	Osteopenia, Optic disc pallor, Mixed hearing impairment, Pancytopenia, Ataxia, Corneal opacity, C...	ORPHA:309288
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Microphthalmia, Iri...	ORPHA:77298
Frank-Ter Haar Syndrome	Osteopenia, Short palm, Bowing of the long bones, Metatarsus adductus, Wide anterior fontanel, Os...	OMIM:249420
Classic Galactosemia	Abnormal erythrocyte enzyme level, Osteoporosis, Reduced bone mineral density	ORPHA:79239
Severe Congenital Nemaline Myopathy	Facial palsy, Multiple prenatal fractures, Flexion contracture, Facial diplegia, Low-set ears, Ar...	ORPHA:171430
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Arteriosclerosis, Severe Juvenile	Central retinal vessel vascular tortuosity, Calcification of the aorta, Arteriosclerosis, Hip dys...	OMIM:208060
Mccune-Albright Syndrome	Aneurysmal bone cyst, Osteomalacia, Precocious puberty, Hepatitis, Renal phosphate wasting, Renal...	ORPHA:562
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short stature, Iliac crest serration, Postnatal growth retardation, Wide distal femoral metaphysi...	OMIM:613320
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat...	OMIM:618261
Brachyolmia Type 1, Toledo Type	Increased urinary disaccharide excretion, Precocious costochondral ossification, Gait disturbance...	OMIM:271630
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Thromboc...	ORPHA:290
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Hepatocellular carcinoma, Rick...	ORPHA:2088
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Hamamy Syndrome	Osteopenia, Syndactyly, Long toe, Recurrent fractures, Craniosynostosis, Tapered finger, Down-slo...	OMIM:611174
Grange Syndrome	Syndactyly, Recurrent fractures, Carotid artery stenosis, Increased susceptibility to fractures, ...	OMIM:602531
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Congenital sensorineural hearing impairment, Generalized joint laxity, Delayed skelet...	ORPHA:432
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Delayed proximal femoral epiphyseal ossification, Metaphyseal widening, Flexion contracture, Larg...	OMIM:271640
Branchiootorenal Syndrome 1	Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch...	OMIM:113650
Cleidocranial Dysplasia 1	Increased bone mineral density, Brachydactyly, Short stature, Hypoplastic scapulae, Aplastic clav...	OMIM:119600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Osteo...	ORPHA:79259
Oculodentodigital Dysplasia	Mandibular prognathia, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, ...	ORPHA:2710
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Abnormality of the outer ear, Reduced bone mineral density	ORPHA:466926
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hepatomegaly, Hypospadias, Optic nerve hypoplasia, Craniosynostosis...	OMIM:301056
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Aplastic anemia, Aplasia...	ORPHA:2909
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ...	OMIM:259770
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal vestibular function	OMIM:619553
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Short stature, Osteoporosis, Foot acroosteolysis, Osteolytic defects of...	OMIM:102500
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Splenomegaly, Patent ductus arteriosus, Sea-blue histiocytosis, Thin...	OMIM:230600
Mucolipidosis Ii Alpha/Beta	Osteopenia, Hepatomegaly, Increased serum beta-hexosaminidase, Craniosynostosis, Cardiomegaly, Sp...	OMIM:252500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:164180
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Oligoarthritis, Decreased circulating total IgM, T lymphocytopenia, Decreased circul...	OMIM:619510
Nestor-Guillermo Progeria Syndrome	Prominent superficial veins, Limited elbow movement, Joint stiffness, Flexion contracture, Osteop...	OMIM:614008
Phakomatosis Pigmentovascularis	Cerebral calcification, Arteriovenous malformation, Reduced bone mineral density	ORPHA:2875
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Distal joint laxity, Generalized joint laxity, Osteoporosis, Hip dislocation, Elbow f...	ORPHA:1900
Microphthalmia, Syndromic 5	Joint laxity, Anophthalmia, Cataract, Optic nerve hypoplasia, Cryptorchidism, Microcornea, Microp...	OMIM:610125
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Thrombocytope...	OMIM:619743
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce...	OMIM:276700
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler...	ORPHA:793
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Thrombocytopenia, Leukocytosis, Chronic kidney disease, ...	ORPHA:340
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Bone pain, Reduced...	ORPHA:667
46,Xx Gonadal Dysgenesis	Osteopenia, Short stature, Arachnodactyly, Delayed skeletal maturation, Reduced bone mineral dens...	ORPHA:243
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Growth ...	ORPHA:3240
Occipital Horn Syndrome	Osteopenia, Cerebral calcification, Venous insufficiency, Coxa vara, Humerus varus, Short palm, L...	ORPHA:198
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Arthritis, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia	OMIM:601457
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Joint stiffness, Heparan sulfate excretion in urine, Inability to walk, Thrombocytop...	ORPHA:505248
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Prominent superficial veins, Anomalous branches of internal carotid art...	ORPHA:363705
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi...	OMIM:610202
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Cataract, Hypospadias, Corneal opacity, External ear ...	ORPHA:912
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Werner Syndrome	Increased bone mineral density, Rocker bottom foot, Abnormal cerebral vascular morphology, Joint ...	ORPHA:902
Amish Lethal Microcephaly	Decreased skull ossification, Osteoporosis, Limitation of joint mobility	ORPHA:99742
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Reduced bone mineral de...	OMIM:619377
Trisomy 1Q	Multicystic kidney dysplasia, Anophthalmia, Small scrotum, Camptodactyly of finger, Cryptorchidis...	ORPHA:261344
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Patent ductus arteriosus, Flexio...	OMIM:616867
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, R...	ORPHA:89936
Activated Pi3K-Delta Syndrome	Splenomegaly, Decreased circulating antibody level, Increased circulating IgM level, Arthritis, B...	ORPHA:397596
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Short metatarsal, Protruding ear, Clinodactyly of the 5th finger, P...	ORPHA:96148
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Sti...	OMIM:615415
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Recurrent fractures, Sensorineural hearing impairment, Delayed skeletal maturation...	OMIM:601812
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia, Aniridia, Microphthalmia, Micropenis, Decreased skull...	OMIM:602361
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ...	ORPHA:169154
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Brachydactyly, Multiple joint contractures, Short stature, Microcytic anemia, T lymph...	ORPHA:2959
Osteogenesis Imperfecta	Osteopenia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal femur morpho...	ORPHA:666
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol...	ORPHA:2658
Basal Ganglia Calcification, Idiopathic, 1	Basal ganglia calcification, Calcification of the small brain vessels, Dense calcifications in th...	OMIM:213600
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Gait ataxia, 3-...	ORPHA:496790
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Osteoporosis	OMIM:219080
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis	OMIM:615954
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Decreased circulating anti...	OMIM:617425
Congenital Disorder Of Glycosylation, Type Iib	Recurrent fractures, EEG with burst suppression, Sensorineural hearing impairment, Optic atrophy,...	OMIM:606056
Meckel Syndrome	Ureteral duplication, Anophthalmia, Sclerocornea, Asplenia, Microcornea, Urethral atresia, Low-se...	ORPHA:564
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Osteoporosis	OMIM:610475
Juvenile Sialidosis Type 2	Hepatomegaly, Cataract, Ataxia, Abnormality of the kidney, Corneal opacity, Optic atrophy, Dysmet...	ORPHA:93399
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Rickets, Hypophosphatemia, Nephrocalc...	OMIM:616026
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Left ventricular h...	OMIM:613153
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki...	ORPHA:423
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx of finger, Genu varu...	ORPHA:221016
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Hypouricemia, Intrahepatic...	OMIM:227810
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Lathosterolosis	Toe syndactyly, Increased mean platelet volume, Acanthocytosis, Postaxial hand polydactyly, Schis...	OMIM:607330
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Neutropenia, Avascular necrosis, Thrombo...	OMIM:613989
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Short metacarpal, Short stature, Overlapping toe, Craniosyno...	OMIM:616723
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Harel-Yoon Syndrome	Ataxia, Corneal opacity, Inability to walk, Optic atrophy, Developmental cataract	OMIM:617183
Cinca Syndrome	Brachydactyly, Abnormality of neutrophils, Splenomegaly, Sensorineural hearing impairment, Leukoc...	ORPHA:1451
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Brachydactyly, Short stature, ...	ORPHA:794
Glycerol Kinase Deficiency	Short stature, Osteoporosis, Growth delay, Low-set ears, Pathologic fracture	OMIM:307030
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Rin2 Syndrome	Increased susceptibility to fractures, Aortic aneurysm, Joint hypermobility, Brachydactyly	ORPHA:217335
Macs Syndrome	Joint laxity, Dilation of Virchow-Robin spaces, Osteoporosis, Aortic aneurysm, Joint hypermobilit...	OMIM:613075
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Gait disturbance, Decr...	OMIM:614170
Fryns Microphthalmia Syndrome	Microphthalmia, Macrotia, Anophthalmia	OMIM:600776
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Short stature, Coxa valga, Wide anterior fontanel, Flared metaphysi...	OMIM:269300
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th fin...	ORPHA:2636
Osteogenesis Imperfecta, Type Xv	Bowing of limbs due to multiple fractures, Short stature, Recurrent fractures, Joint hypermobility	OMIM:615220
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Abnormal trabecular bone morphology, Femur fracture, Splenomegal...	OMIM:612301
Hemochromatosis, Type 1	Splenomegaly, Osteoporosis	OMIM:235200
Treacher Collins Syndrome 2	Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia	OMIM:613717
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphat...	ORPHA:466650
X-Linked Intellectual Disability, Snyder Type	Long toe, Short stature, Recurrent fractures, Asymmetry of the ears, Arachnodactyly, Cupped ear, ...	ORPHA:3063
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Familial Papillary Or Follicular Thyroid Carcinoma	Bone pain, Recurrent fractures, Abnormal neck blood vessel morphology	ORPHA:319487
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ...	OMIM:613101
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Hajdu-Cheney Syndrome	Osteopenia, Brachydactyly, Bowing of the long bones, Short stature, Recurrent fractures, Hearing ...	ORPHA:955
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Venous insuffici...	ORPHA:565
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Protruding ear, Low-set ...	OMIM:616603
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Anophthalmia, Abnormal tragus morphology,...	ORPHA:66625
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Aortic Valve Disease 2	Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,...	OMIM:614823
Glass Syndrome	Short stature, Posteriorly rotated ears, Anterior tibial bowing, Arachnodactyly, Low-set ears, Ca...	OMIM:612313
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short palm, Short metacarpal, Single interphalangeal crease of fifth finger, Postnatal growth ret...	OMIM:611717
Congenital Myopathy 22A, Classic	Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contracture...	OMIM:620351
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Short stature, Abnormal auditory evoked potentials, Sensorineural hearing impa...	OMIM:619260
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Micrognathia, Decreased circulating antibody level	OMIM:301045
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Reduced bone mineral density, Agammaglobulinemia, Long fibula, Abnormal metaphysis morphology, Ly...	ORPHA:935
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Rocker bottom foot, Multifocal epileptiform discharges, Tibia...	ORPHA:453510
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Immunodeficiency 92	Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop...	OMIM:619652
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co...	ORPHA:2671
Erythrokeratodermia Variabilis	Cataract, Corneal opacity, Protruding ear, Abnormal testis morphology, Hearing impairment	ORPHA:317
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Recurrent shoulder dislocation, Down-sloping shoulders, Microtia, Short clavicles, Fi...	OMIM:212112
Fgfr2-Related Bent Bone Dysplasia	Overfolding of the superior helices, Osteopenia, Extramedullary hematopoiesis, Hypoplastic ischia...	ORPHA:313855
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Osteoporosis, Joint hypermobility, Bicoronal synostosis	OMIM:619718
Whim Syndrome 1	Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level	OMIM:193670
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Cryptorchidism, Low-set ears, Abnormal fallopian...	ORPHA:2189
Osteogenesis Imperfecta, Type Xx	Posteriorly rotated ears, Multiple prenatal fractures, Disproportionate short-limb short stature,...	OMIM:618644
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Decreased lymphocyte proliferation in response to anti-CD3, Decreased proportion of C...	ORPHA:221139
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ureteral stenosis, Ataxia, Corneal opacity, Cataract, Cryptorchidism, Sensorineural hearing impai...	ORPHA:2719
Loeys-Dietz Syndrome 2	Descending thoracic aorta aneurysm, Abdominal aortic aneurysm, Joint laxity, Syndactyly, Arachnod...	OMIM:610168
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, ...	ORPHA:281090
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Short stature, Aplastic anemia...	ORPHA:221008
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Abnormal pinna morphology, Pancreatic fibrosis, Craniosynostosis, Hepatic fibrosis,...	OMIM:200995
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Abnormal tubulointerstitial morphol...	ORPHA:411629
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Decreased circulating IgG level, Brachydactyly, Mandibular prognathia, Rhizomelia, Fl...	OMIM:271510
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Cataract, Ataxia, Abnormality of the kidney, Corneal opaci...	ORPHA:93400
Farber Disease	CNS foam cells, Thrombocytopenia, Short toe, Flexion contracture, Osteoporosis, Hepatosplenomegal...	ORPHA:333
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Delayed skeleta...	ORPHA:93324
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Iron defic...	OMIM:212750
Dyskeratosis Congenita	Short stature, Recurrent fractures, Hearing impairment, Abnormality of neutrophils, Thrombocytope...	ORPHA:1775
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries	ORPHA:90301
Classic Homocystinuria	Arachnodactyly, Recurrent fractures, Joint stiffness, Osteoporosis, Genu valgum, Intracranial hem...	ORPHA:394
Immunodeficiency 97 With Autoinflammation	Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E...	OMIM:619802
Microphthalmia With Limb Anomalies	Anophthalmia, Posteriorly rotated ears, Unilateral cryptorchidism, Capitate-hamate fusion, 4-5 me...	OMIM:206920
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Anophthalmia, Iris coloboma	ORPHA:1104
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a...	OMIM:617780
Schwartz-Jampel Syndrome	Coxa vara, Wrist flexion contracture, Low-set, posteriorly rotated ears, Increased bone mineral d...	ORPHA:800
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocell...	OMIM:301078
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Joint stiffness, Splenomegaly, Osteoporosis, Arthr...	ORPHA:465508
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Dental malocclusion, Slender long bone, Polydactyly, Hypoplastic pelvis...	OMIM:612731
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Osteoporosis, Growth delay, Triphalangeal thumb, Delayed puberty, Contracture of the ...	ORPHA:2232
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased...	OMIM:616005
Kallmann Syndrome	Recurrent fractures, Delayed skeletal maturation, Sensorineural hearing impairment, Reduced bone ...	ORPHA:478
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Cockayne Syndrome B	Severe short stature, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased n...	OMIM:133540
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Optic atrophy, Protruding ear, Microcornea, Astigm...	OMIM:152950
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Hypospadias, Cataract, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupil...	OMIM:615877
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Recurrent fractures, Abnormal neck blood vessel morphology	ORPHA:97290
Cerebrotendinous Xanthomatosis	Osteopenia, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased n...	ORPHA:909
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Accelerated skeletal maturation, Splenomegaly, Flexion contracture, Osteoporosis, Vas...	OMIM:613327
Stickler Syndrome Type 2	Sensorineural hearing impairment, Cataract, Corneal opacity	ORPHA:90654
Morquio Syndrome C	Corneal opacity	OMIM:252300
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Hypogon...	OMIM:206900
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Short stature, Recurrent fractures, Pa...	ORPHA:355
Marshall-Smith Syndrome	Large sternal ossification centers, Accelerated skeletal maturation, Distal widening of metacarpa...	OMIM:602535
Aromatase Deficiency	Osteopenia, Delayed epiphyseal ossification, Delayed skeletal maturation, Bone pain, Osteoporosis...	ORPHA:91
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy	OMIM:616881
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Bro...	OMIM:218330
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Osteoporosis	OMIM:610489
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly,...	ORPHA:699
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Short stature, Arachnodactyly, Sensorineural hearing impa...	ORPHA:536545
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Protruding ear, A...	ORPHA:534
Craniopharyngioma	Papilledema, Proportionate short stature, Postnatal growth retardation, Vertigo, Optic atrophy, I...	ORPHA:54595
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Pulmonary Alveolar Microlithiasis	Mitral valve calcification, Calcification of the aorta, Gonadal calcification, Clubbing of finger...	ORPHA:60025
Beta-Thalassemia Major	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231214
Bone Marrow Failure Syndrome 4	Rhizomelia, Thrombocytopenia, Decreased circulating antibody level, Leukopenia, Bone marrow hypoc...	OMIM:618116
Functioning Gonadotropic Adenoma	Osteopenia, Delayed skeletal maturation, Osteoporosis	ORPHA:91348
Mucolipidosis Iv	Optic atrophy, Opacification of the corneal stroma, Corneal opacity	OMIM:252650
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho...	OMIM:618986
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Short stature, Cong...	OMIM:157800
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Tympanosclerosis	OMIM:240300
Alg9-Cdg	Low-set, posteriorly rotated ears, Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, ...	ORPHA:79328
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Corneal opacity, Camptodactyly of finger, Asplenia, Cryptor...	ORPHA:99776
Mucopolysaccharidosis Type 4	Bowing of the long bones, Short stature, Coxa valga, Delayed skeletal maturation, Reduced bone mi...	ORPHA:582
Chilblain Lupus	Finger swelling, Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Intellectual Disability, Buenos-Aires Type	Short stature, Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Clinodactyly...	ORPHA:3079
Prader-Willi Syndrome	Osteopenia, Osteoporosis, Small hand, Increased susceptibility to fractures, Short foot, Hip dysp...	ORPHA:739
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Decreased ...	ORPHA:508533
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Short stature, Underfolded helix, Short thumb, Osteoporosis, Small ha...	OMIM:268400
Gm1 Gangliosidosis	Ataxia, Corneal opacity, Camptodactyly of finger, Joint stiffness, Splenomegaly, Unsteady gait, O...	ORPHA:354
Gaucher Disease, Type Iiic	Pancytopenia, Mitral valve calcification, Splenomegaly, Aortic valve calcification, Calcification...	OMIM:231005
Scheie Syndrome	Hepatomegaly, Corneal opacity, Joint stiffness, Splenomegaly, Sensorineural hearing impairment, L...	ORPHA:93474
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Calcinosis cutis, Bone pain, Peripheral arterial stenosis, Pathol...	OMIM:259900
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level	OMIM:616740
Hyperparathyroidism 4	Osteopenia	OMIM:617343
Wilson Disease	Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia...	OMIM:277900
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Recurrent fractures, Spleno...	OMIM:239200
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness, Patent ductus arteriosus, Broad phalanges of the hand, Broad m...	OMIM:277600
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Short stature, Abnormality of neutrophils, Reduced bone mineral density, Abnormal...	ORPHA:2720
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Polydactyly, Hypoplastic ischia, Decreased circulating antibody level	OMIM:616910
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ...	OMIM:102700
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Pancytopenia, Osteoporosis, Thrombocytopenia	OMIM:224230
Marfan Syndrome	Osteopenia, Mitral valve calcification, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli...	ORPHA:558
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Meacham Syndrome	Accessory spleen, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Stillbirth, Blind...	OMIM:608978
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Urinary incontinence, Decreased nerv...	ORPHA:101085
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Bone pain, Pathologic fracture, Avas...	OMIM:230800
Lysinuric Protein Intolerance	Recurrent fractures, Thrombocytopenia, Delayed skeletal maturation, Splenomegaly, Osteoporosis, L...	OMIM:222700
Vacterl With Hydrocephalus	Anophthalmia, Renal agenesis, Microtia, third degree, Renal hypoplasia/aplasia, Cryptorchidism, M...	ORPHA:3412
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Tbck-Related Intellectual Disability Syndrome	Broad toe, Sensorineural hearing impairment, Delayed skeletal maturation, Osteoporosis, 2-3 toe s...	ORPHA:488632
Immunodeficiency 32B	Neutrophilia, Sinusitis, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, ...	OMIM:226990
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Joint stiffness, Delayed skeletal maturation, Patent ductus a...	OMIM:608328
3Mc Syndrome	Abnormal pinna morphology, Craniosynostosis, Postnatal growth retardation, Limited pronation/supi...	ORPHA:293843
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic disc pallor, Congenital hip dislocation, Limb joint contracture, Coxa valga, Splenomegaly, ...	ORPHA:404454
Singleton-Merten Syndrome 2	Osteopenia, Aortic valve calcification, Osteolytic defects of the phalanges of the hand	OMIM:616298
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Toe syndactyly, Tapered finger, Anteverted ears, Sensorineural hearing impairment, Osteoporosis, ...	ORPHA:459070
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:99880
Charge Syndrome	Bifid scrotum, Anophthalmia, Hypoplasia of the semicircular canal, Abnormality of bone mineral de...	ORPHA:138
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly...	ORPHA:169160
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, ...	ORPHA:3337
Occipital Horn Syndrome	Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Osteoporo...	OMIM:304150
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Neutropenia, Decreased...	OMIM:242900
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, L...	OMIM:127550
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci...	OMIM:616100
Multiple Sulfatase Deficiency	Hepatomegaly, Cataract, Corneal opacity, Joint stiffness, Splenomegaly, Sensorineural hearing imp...	ORPHA:585
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Short stature, Recurrent fractures, Thrombocytopenia, Cranial nerve compression, Op...	ORPHA:2785
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe generalized osteoporosis, Hypoplastic pubic bone, Cone-shaped epiphyses o...	OMIM:210730
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol...	ORPHA:990
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Keratoconjunctivitis sicca, Rheumatoid arthritis, Enla...	ORPHA:79128
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ...	ORPHA:206443
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia affecting the eye, Hypogonadotropic hypogonadism, Opacification of the corneal...	ORPHA:1643
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasi...	ORPHA:2538
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ra...	OMIM:617053
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Anophthalmia, Proteinuria, External ear malformation, Cryptorc...	ORPHA:2162
Dietary Iron Overload Disease	Osteoporosis	ORPHA:139507
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:143
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Knee flexion contracture, Hip contracture, Ankle flexion contracture, Reduced bone mineral density	OMIM:620232
Anencephaly 2	Anophthalmia	OMIM:619452
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Joint hyperfle...	ORPHA:2050
Hypophosphatemic Rickets And Hyperparathyroidism	Hypercalcemia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets	OMIM:612089
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli...	ORPHA:284984
Prader-Willi Syndrome	Osteopenia, Syndactyly, Short palm, Short stature, Acromicria, Osteoporosis, Small hand, Genu val...	OMIM:176270
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenop...	ORPHA:79292
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, Increased circ...	ORPHA:276
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Osteoporosis, Increased susceptibility to fractures	ORPHA:189427
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia	ORPHA:398079
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Mitral valve calcification, Coxa valga, Aortic v...	OMIM:182250
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Wilson Disease	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Hepatitis, Kayser-Fleischer ring, Arthrit...	ORPHA:905
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Increased susceptibility to fractures	ORPHA:216866
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Orthostatic hypotension, Ataxia, Abnormal auditory evoked pot...	ORPHA:99027
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Cerebral calcification, Basal ganglia calcification, Osteoporosis, Hepatospleno...	OMIM:619487
Cockayne Syndrome Type 3	Splenomegaly, Basal ganglia calcification, Flexion contracture, Subdural hemorrhage, Premature co...	ORPHA:90324
Hurler Syndrome	Hepatomegaly, Corneal opacity, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly,...	OMIM:607014
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco...	OMIM:274000
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula...	OMIM:308230
Mulibrey Nanism	Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Enamel hypoplasia, Thic...	OMIM:253250
Fraser Syndrome 1	Anophthalmia, Hypospadias, Abnormal pinna morphology, Corneal opacity, Renal hypoplasia/aplasia, ...	OMIM:219000
Prolidase Deficiency	Arachnodactyly, Splenomegaly, Reduced bone mineral density, Genu valgum, Abnormal hip bone morpho...	ORPHA:742
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Low-set ears, Ambiguous g...	OMIM:612651
Raine Syndrome	Increased bone mineral density, Hydroureter, Mixed hearing impairment, Posteriorly rotated ears, ...	OMIM:259775
Joubert Syndrome 21	Anophthalmia, Ataxia, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Megalopapill...	OMIM:615636
7Q31 Microdeletion Syndrome	Postnatal growth retardation, Hypoplasia of the cochlea, Delayed skeletal maturation, Clinodactyl...	ORPHA:251061
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Corneal opacity, Unilateral renal agenesis, Craniosynostosis, Developmental glaucoma, Aniridia	ORPHA:1064
Wolf-Hirschhorn Syndrome	Low-set, posteriorly rotated ears, Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Short t...	ORPHA:280
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Abnormal CD4:CD8 ratio, Autoimmune thromboc...	ORPHA:572
Dermatitis Herpetiformis	Bone pain, Recurrent fractures, Microcytic anemia	ORPHA:1656
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Short stature, Recurrent fractures, Joint hypermobility	OMIM:619120
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Reticular Dysgenesis	Anemia, Leukopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:33355
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Cataract, Jaundice, Chronic kidney disease, Hypermagnesemia, H...	ORPHA:469
Mucolipidosis Type Iv	EEG abnormality, Ataxia, Gait disturbance, Corneal opacity	ORPHA:578
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm...	ORPHA:848
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Low-set ears, Microphthalmia, Overfo...	OMIM:619339
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Cataract, Ataxia, Proteinuria, Abnormal auditory evoked potent...	OMIM:216400
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Leprechaunism	Hepatomegaly, Clitoral hypertrophy, Enlarged ovaries, Overgrowth of external genitalia, Labial hy...	ORPHA:508
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity, Coarse metaphyseal trabecularization	OMIM:618961
Prolactinoma	Osteopenia, Vertigo, Osteoporosis, Delayed puberty	ORPHA:2965
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Corneal Dystrophy And Perceptive Deafness	Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, Lethargy, Intrahepatic biliary dysgenesis, Hepatomegal...	OMIM:614866
Post-Traumatic Pituitary Deficiency	Osteopenia, Osteoporosis of vertebrae, Delayed skeletal maturation	ORPHA:95619
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi...	OMIM:214110
Neuropathy, Hereditary Sensory And Autonomic, Type V	Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury, Septic arth...	OMIM:608654
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Short stature, Postnatal growth retardation, Splenomegaly, Osteoporosis, Anemia	ORPHA:79240
Cerebrotendinous Xanthomatosis	Optic disc pallor, Osteoporosis, Abnormality of central somatosensory evoked potentials, EEG with...	OMIM:213700
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Proteinuria, Corneal opacity, Minimal change glomerulonephritis, Thrombocytopenia, H...	ORPHA:1830
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cataract, Iris hypopigmentation, Corneal opacity, Sclerocornea, Camptodactyl...	ORPHA:284160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Elevated circulating creatine kinase concentra...	OMIM:236670
Spondyloocular Syndrome	Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Thin bony co...	OMIM:605822
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Short st...	OMIM:617052
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Posterior embryotoxon, Anophthalmia, Hypospadias, Corneal opacity, Scl...	ORPHA:2556
Adrenomyodystrophy	Delayed skeletal maturation, Reduced bone mineral density	ORPHA:977
Aicardi-Goutières Syndrome	Multiple joint contractures, Cerebral calcification, Neonatal alloimmune thrombocytopenia, Calcif...	ORPHA:51
Pituitary Adenoma 4, Acth-Secreting	Osteoporosis	OMIM:219090
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Cataract, Chronic neutrop...	ORPHA:500095
Trisomy 10P	Thumb contracture, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst ...	ORPHA:171929
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Loss of ambulation, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Br...	OMIM:214100
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic...	OMIM:243605
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Tracheomalacia, Metatarsus adductus, Osteopathia striata, Abnormal Eustachian tube morphology, Lo...	ORPHA:513456
Alpha-Mannosidosis, Infantile Form	Osteopenia, Optic disc pallor, Recurrent urinary tract infections, Mixed hearing impairment, Atax...	ORPHA:309282
Geleophysic Dysplasia 1	Osteopenia, Short stature, Camptodactyly of finger, Joint stiffness, Coxa valga, Hypoplasia of th...	OMIM:231050
Cockayne Syndrome	Cerebral calcification, Splenomegaly, Basal ganglia calcification, Dense calcifications in the ce...	ORPHA:191
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Flexion contracture, Osteoporosis, Small hand, Short foot, Hip dysplasia	ORPHA:398069
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacc...	OMIM:215250
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Short stature, Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Growth delay, Delay...	ORPHA:264580
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Delayed skeletal maturation...	ORPHA:77293
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Osteomalacia, Parathormone-independent increased renal t...	ORPHA:405
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Cochlear degeneration, Hearing impairment	ORPHA:95433
Cerebrooculonasal Syndrome	Anophthalmia, Posteriorly rotated ears, Optic nerve hypoplasia, Craniosynostosis, Low-set ears, H...	OMIM:605627
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Hypogon...	ORPHA:2250
Short Syndrome	Posterior embryotoxon, Corneal opacity, Sensorineural hearing impairment, Abnormal pupil morpholo...	ORPHA:3163
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Alg12-Cdg	Sandal gap, Proximal placement of thumb, Abnormal circulating IgA level, Partial absence of speci...	ORPHA:79324
Atypical Werner Syndrome	Sclerosis of hand bone, Premature arteriosclerosis, Increased bone mineral density, Prominent sup...	ORPHA:79474
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Abnormal bone ossification, ...	ORPHA:175
Fabry Disease	Conjunctival telangiectasia, Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Corneal ...	ORPHA:324
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of...	OMIM:263700
Proteasome-Associated Autoinflammatory Syndrome 3	Sinusitis, Thrombocytopenia, Splenomegaly, Flexion contracture, Arthritis, Finger swelling, Incre...	OMIM:617591
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Reduced bone mineral density, Short 5th metacarpal, Hypermobility of toe joints, Shor...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Reduced bone mineral density, Short 5th metacarpal, Hypermobility of toe joints, Shor...	ORPHA:99228
Monosomy X	Osteopenia, Reduced bone mineral density, Short 5th metacarpal, Hypermobility of toe joints, Shor...	ORPHA:99226
Turner Syndrome	Osteopenia, Reduced bone mineral density, Short 5th metacarpal, Hypermobility of toe joints, Shor...	ORPHA:881
Dpagt1-Cdg	EEG with generalized slow activity, Arachnodactyly, Flexion contracture, Osteoporosis, Optic atro...	ORPHA:86309
Congenital Disorder Of Deglycosylation 1	Hyperalaninemia, Hepatomegaly, Corneal opacity, Elevated circulating alpha-fetoprotein concentrat...	OMIM:615273
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull...	OMIM:619727
Bartsocas-Papas Syndrome	Corneal opacity, Renal hypoplasia/aplasia, Popliteal pterygium, Hypoplastic male external genital...	ORPHA:1234
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom...	OMIM:613011
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Hepatoblastoma, Cardiomegaly, Cryptorchidism, Pan...	OMIM:130650
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia	ORPHA:98754
Multiple Myeloma	Osteopenia, Splenomegaly, Bone pain, Pathologic fracture, Anemia	ORPHA:29073
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul...	OMIM:611584
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Recu...	OMIM:601495
Proboscis Lateralis	Anophthalmia, Corneal opacity, Optic nerve hypoplasia, Unilateral renal agenesis, External genita...	ORPHA:141099
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hydrocele testis, Microtia, Nephroblastoma, Ovarian serous c...	ORPHA:276280
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Multiple Sulfatase Deficiency	Hepatomegaly, Ataxia, Corneal opacity, Splenomegaly, Mucopolysacchariduria, Hearing impairment	OMIM:272200
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia	ORPHA:98793
Mucopolysaccharidosis Type 7	Corneal opacity, Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling, Mucopolysacchari...	ORPHA:584
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Camptodactyly of finger, Joint stiffness, Heparan sulfate excretio...	OMIM:607015
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Pancytopenia, Mitral valve calcification, Abnormality of the spleen, Splenomegaly,...	ORPHA:2072
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Small scrotum, Posteriorly rotated ears, Cryptorchidism, Cuppe...	ORPHA:264200
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia	ORPHA:177904
Norrie Disease	Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Leukocoria, Hypoplasi...	OMIM:310600
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinusitis, Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibod...	OMIM:616576
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia	ORPHA:177901
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Leukocytosis, Oliguria, Abnormal blood ion concentration, Hypo...	ORPHA:31824
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Urinary incontinence, E...	ORPHA:206448
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Corneal opacity, Camptodactyly of finger, Hearing impairment, Renal...	ORPHA:2092
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Acro-Renal-Ocular Syndrome	Triphalangeal thumb, Conductive hearing impairment, Vertebral fusion, Hypoplasia of the ulna, Fin...	ORPHA:959
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Sensorineura...	ORPHA:293603
Carpenter Syndrome 1	Hydroureter, Abnormal pinna morphology, External genital hypoplasia, Sagittal craniosynostosis, P...	OMIM:201000
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Reduced bone mineral density, Sex reversal, Increased circulating renin level...	ORPHA:168558
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Fraser Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias...	ORPHA:2052
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Osteop...	OMIM:225400
Charge Syndrome	Anophthalmia, External genital hypoplasia, Hypocalcemia, Micropenis, Aplasia/Hypoplasia of the th...	OMIM:214800
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Corneal dystrophy, Camptodactyly of finger, Cryptorchidism, Aniridia, Megalocornea	ORPHA:1101
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Patent ductus arteriosus, Flexio...	OMIM:616866
Mosaic Trisomy 8	Decreased testicular size, Abnormal pinna morphology, Corneal opacity, Camptodactyly of finger, C...	ORPHA:96061
Wagro Syndrome	Decreased testicular size, Cataract, Proteinuria, Corneal opacity, Low-set ears, Aniridia, Nephro...	OMIM:612469
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Reduced bone mineral density, Sex reversal, Increased circulating renin level...	ORPHA:289548
Ogden Syndrome	Global glomerulosclerosis, Cardiomegaly, Cryptorchidism, Thrombocytopenia, Jaundice, Microvesicul...	OMIM:300855
Familial Exudative Vitreoretinopathy	Reduced bone mineral density, Abnormal optic disc morphology, Hearing impairment	ORPHA:891
Infantile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph...	ORPHA:206436
Primary Hyperoxaluria	Generalized osteosclerosis, Calcinosis cutis, Bone pain, Recurrent fractures	ORPHA:416
Fryns Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacol...	ORPHA:2059
Oculomaxillofacial Dysostosis	Aplasia/Hypoplasia affecting the eye, Corneal opacity, Camptodactyly of finger	ORPHA:1794
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Cerebral calcification, Delayed skeletal maturation, Rick...	OMIM:613658
Helsmoortel-Van Der Aa Syndrome	Joint laxity, Recurrent urinary tract infections, Posteriorly rotated ears, Facial palsy, Cryptor...	OMIM:615873
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Cataract, Corneal opacity, Vagin...	ORPHA:1052
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Autosomal Dominant Progressive External Ophthalmoplegia	Facial diplegia, Osteoporosis, Facial palsy, Hearing impairment	ORPHA:254892
Warburg-Cinotti Syndrome	Posteriorly rotated ears, Ankle flexion contracture, Elbow flexion contracture, Osteolytic defect...	OMIM:618175
Williams Syndrome	Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly...	ORPHA:904
Primrose Syndrome	Hip contracture, Calcification of the auricular cartilage, Short stature, Joint hypermobility, Me...	OMIM:259050
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Abnormal pinna morphology, Delayed skeletal maturation, Small hand, Short foot, Spina...	ORPHA:488434
Sjogren-Larsson Syndrome	Astigmatism, Flexion contracture, Opacification of the corneal epithelium	OMIM:270200
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Microphthalmia, Syndromic 2	Anophthalmia, Hypospadias, Posteriorly rotated ears, Septate vagina, Asymmetry of the ears, Antev...	OMIM:300166
3Mc Syndrome 3	Bifid scrotum, Abnormal pinna morphology, Corneal opacity, Cryptorchidism, Horseshoe kidney, Radi...	OMIM:248340
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop...	OMIM:602450
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Sensorineural hearing impairment, Chronic kidney disease, Proximal r...	OMIM:146255
De Barsy Syndrome	Osteopenia, Cataract, Corneal opacity, Cryptorchidism, Generalized joint laxity, Athetosis, Progr...	ORPHA:2962
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Clubbing of fingers, Scler...	ORPHA:2905
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Optic disc coloboma, Peters anomaly, Vesicoureteral reflux,...	OMIM:120200
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Flexion contracture of finger, Hypospadias, Corneal opacity, Unilateral renal ...	ORPHA:464311
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody l...	OMIM:615122
3Q29 Microduplication Syndrome	Cataract, Craniosynostosis, Sclerocornea, Camptodactyly of toe, Low-set ears, Aniridia, Microphth...	ORPHA:251038
Microphthalmia, Syndromic 6	Anophthalmia, Small scrotum, Female hypogonadism, Uplifted earlobe, Posteriorly rotated ears, Scl...	OMIM:607932
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Decreased testicular size	ORPHA:1867
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Block vertebrae, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe...	OMIM:306955
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Decreased c...	ORPHA:79330
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Phocomeli...	ORPHA:3103
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Abnormality of cartilage of external ear, Bilateral microphthalmos, Cu...	ORPHA:2399
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc...	ORPHA:1806
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Hallermann-Streiff Syndrome	Recurrent fractures, Tracheomalacia, Small hand, Reduced bone mineral density, Short foot, Clinod...	ORPHA:2108
Mend Syndrome	Broad hallux, Short stature, Abnormal auditory evoked potentials, Overlapping toe, Wide anterior ...	ORPHA:401973
Primary Biliary Cholangitis	Increased circulating IgM level, Orthostatic hypotension, Osteoporosis, Increased circulating IgA...	ORPHA:186
Agammaglobulinemia, X-Linked	Agammaglobulinemia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE...	OMIM:300755
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia	ORPHA:95159
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Corneal opacity, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly,...	OMIM:253220
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Icf Syndrome	Abnormality of neutrophils, Micrognathia, Decreased circulating antibody level, Lymphopenia, Anemia	ORPHA:2268
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Posteriorly rotated ears, Corneal opacity, Keratitis, Microtia, Conjunctivitis	OMIM:602562
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Low-set ears	ORPHA:89844
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad-based gait, Hypospadias, Optic nerve hypoplasia, Corneal dystrophy, Corneal opacity, Crypto...	ORPHA:495875
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Cardiomegaly, Optic atrophy, Renal cyst, Polycystic ovaries, Letha...	ORPHA:137675
46,Xy Sex Reversal 4	Renal dysplasia, Distal symphalangism, Hypergonadotropic hypogonadism, Sensorineural hearing impa...	OMIM:154230
Gm1-Gangliosidosis, Type Iii	Ataxia, Opacification of the corneal stroma	OMIM:230650
Tick-Borne Encephalitis	Stiff neck, Facial palsy, Thrombocytopenia, Vertigo, Leukocytosis, Abnormal cranial nerve morphol...	ORPHA:297
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Multiple joint contractures, Hypospadias, Corneal opacity, Unilateral renal ag...	ORPHA:464306
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Ataxia, Optic atrophy, H...	OMIM:251300
Mietens Syndrome	Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Microcornea, Elbow ankylosis	ORPHA:2557
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys...	ORPHA:79277
Say-Barber-Miller Syndrome	Craniosynostosis, Micrognathia, Carious teeth, Hip dislocation, Transient hypogammaglobulinemia o...	ORPHA:3132
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Peripheral pulmonary artery stenosis, Wide anterior fontanel, Dilatation of the ven...	ORPHA:90349
Isotretinoin-Like Syndrome	Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi...	ORPHA:2306
Lysinuric Protein Intolerance	Osteopenia, Thrombocytopenia, Delayed skeletal maturation, Osteoporosis, Hepatosplenomegaly, Leuk...	ORPHA:470
Glycogen Storage Disease Of Heart, Lethal Congenital	EEG with burst suppression, Cataract, Enlarged kidney, Cardiomegaly	OMIM:261740
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Dilated superficial abdominal veins, Os...	ORPHA:171
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Low-set ears, Microphthalmia, Ocular anterior segment dysgenesis, Macr...	OMIM:615145
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c...	ORPHA:449400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Cardiac-Urogenital Syndrome	Bifid scrotum, Accessory spleen, Penoscrotal hypospadias, Unilateral cryptorchidism, Tracheomalac...	OMIM:618280
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma...	ORPHA:90024
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Conge...	ORPHA:83461
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Focal Dermal Hypoplasia	Joint laxity, Ureteral duplication, Mixed hearing impairment, Anophthalmia, Ectopia lentis, Crypt...	OMIM:305600
Neurofibromatosis Type 1	Short stature, Recurrent fractures, Joint stiffness, Hearing abnormality, Genu varum, Genu valgum...	ORPHA:636
Incontinentia Pigmenti	Cataract, Corneal opacity, Eosinophilia, Camptodactyly of finger, Keratitis, Osteolysis, Gait dis...	ORPHA:464
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice, Bicarbonaturia, Proximal rena...	OMIM:229600
Aspartylglucosaminuria	Mandibular prognathia, Abnormal morphology of ulna, Joint stiffness, Carious teeth, Splenomegaly,...	ORPHA:93
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Vaginal atresia	OMIM:248450
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Abnormal internal carotid artery morphology, Peripheral arterial sten...	ORPHA:391665
Cystic Fibrosis	Osteopenia, Osteoporosis, Hearing impairment	ORPHA:586
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Brachydactyly, External ear malformation, Absent radius, Sensori...	ORPHA:233
Gomez-Lopez-Hernandez Syndrome	Ataxia, Posteriorly rotated ears, Craniosynostosis, Low-set ears, Opacification of the corneal st...	OMIM:601853
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Scheie Syndrome	Corneal opacity	OMIM:607016
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, C...	OMIM:304120
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Hurler Syndrome	Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Camptodactyly of finger, Splenomegaly,...	ORPHA:93473
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, EEG with burst suppression, Optic atrophy, Hypsarrhythmia, Pathologic fracture	OMIM:614231
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Renal agenesis, Facial palsy, Posteriorly rotated ears, Cataract, Cryp...	OMIM:113620
Primary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro...	ORPHA:90362
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Thrombocytopenia, Splenomegaly, Osteoporosis, Low-set ears, Recurrent otitis m...	OMIM:619525
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Fucosidosis	Hepatomegaly, Corneal opacity, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduri...	ORPHA:349
17Q11 Microdeletion Syndrome	Osteopenia, Short stature, Bowing of the legs, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Lo...	ORPHA:97685
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Oculocerebrocutaneous Syndrome	Corneal opacity, External ear malformation, Cryptorchidism, Iris coloboma, Hearing impairment	ORPHA:1647
Sézary Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Abnormal immunoglobulin level	ORPHA:3162
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Opacification of the corneal stroma, Joint stiffness	OMIM:252605
Mgat2-Cdg	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating ant...	ORPHA:79329
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Clubbing, Decreased circulating antibody level, Iron deficiency anemia, Clubbing of fingers, Thro...	OMIM:226300
Lowe Oculocerebrorenal Syndrome	Short stature, Camptodactyly of finger, Osteomalacia, Postnatal growth retardation, Rickets, Hip ...	OMIM:309000
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	ORPHA:436159
Mucopolysaccharidosis Type 1	Corneal opacity, Abnormality of the tonsils, Joint stiffness, Splenomegaly, Sensorineural hearing...	ORPHA:579
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Splenomegaly, Decreased circu...	OMIM:619381
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Low-set...	OMIM:614230
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Short stature, Osteomyelitis leading to amputation due to slow healing fractures, Increased susce...	OMIM:256810
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Pelvic kidn...	OMIM:613001
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Buphthalmos, Microcornea, Shallow anterior chamber, Poster...	OMIM:221900
Exudative Vitreoretinopathy 1	Recurrent fractures	OMIM:133780
Treacher-Collins Syndrome	Multiple enchondromatosis, Microtia, Hypoplasia of the thymus, Abnormality of bone mineral densit...	ORPHA:861
Hardikar Syndrome	Short stature, Hypersplenism, Splenomegaly, Vertigo, Osteoporosis, Hepatosplenomegaly, Growth del...	OMIM:301068
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Hepatoblastoma, Hearing impairment, Cryptorchidism, Splenomegaly, Rena...	OMIM:312870
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Septate vagina, Progressive sens...	ORPHA:2237
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ...	OMIM:137920
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea, Protruding ear	OMIM:268320
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Microphthalmia With Limb Anomalies	Low-set, posteriorly rotated ears, Tarsal synostosis, Cryptorchidism, Optic atrophy, Horseshoe ki...	ORPHA:1106
Dyggve-Melchior-Clausen Disease	Corneal opacity, Inability to walk, Difficulty walking, Limited knee extension, Limited elbow ext...	ORPHA:239
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Cataract, Optic atrophy, Protruding ear, Microphthalmia, Leukemia	ORPHA:2526
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria, Corneal opacity	ORPHA:1765
Blue Rubber Bleb Nevus	Pathologic fracture, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee, Peters anomaly...	OMIM:309801
Tsh-Secreting Pituitary Adenoma	Osteopenia, Vertigo, Osteoporosis, Delayed puberty	ORPHA:91347
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Buphthalmos, Microcornea, Shallow ...	ORPHA:91495
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Optic atrophy, Osteoporosi...	OMIM:305000
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Aortic valve calcification, Coarctation of aorta, Ascending aortic dissecti...	ORPHA:402075
Alveolar Echinococcosis	Liver abscess, Abnormal pelvis bone morphology, Eosinophilia, Bone cyst, Abnormal spleen morpholo...	ORPHA:284
Opsismodysplasia	Renal phosphate wasting, Posteriorly rotated ears, Low-set ears, Hypophosphatemia	OMIM:258480
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden...	ORPHA:31150
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Prominent antihelix, Microphthalmia, Microp...	OMIM:610829
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density	ORPHA:90796
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin...	ORPHA:79102
Ichthyosis, X-Linked	Cryptorchidism, Testicular neoplasm, Opacification of the corneal stroma	OMIM:308100
Cystic Echinococcosis	Abscess, Eosinophilia, Bone cyst, Increased circulating antibody level, Splenic cyst, Peritoneal ...	ORPHA:400
Cushing Disease	Leukocytosis, Osteoporosis, Avascular necrosis, Stroke, Decreased eosinophil count, Lymphopenia	ORPHA:96253
Pseudo-Torch Syndrome 1	Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundice, Low-set ears, Opacification ...	OMIM:251290
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Patent ductus arteriosus, Arterial stenosis, Reduced bone mine...	ORPHA:1556
Epilepsy-Telangiectasia Syndrome	Short 5th finger, Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy...	ORPHA:90045
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Macular hypoplasia, Poste...	OMIM:612109
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Posteriorly rotated ears, Sensorineural hearing impairment, Axenfeld anomaly, Low-s...	OMIM:612582
Roberts-Sc Phocomelia Syndrome	Knee flexion contracture, Wrist flexion contracture, Accessory spleen, Hypospadias, Cryptorchidis...	OMIM:268300
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Cholesteatoma	OMIM:610978
Mosaic Trisomy 1	Hepatic agenesis, Abnormal pinna morphology, Camptodactyly of finger, Elbow flexion contracture, ...	ORPHA:1692
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Meckel Syndrome 14	Decreased calvarial ossification, Hepatic fibrosis, Aplasia of the uterus, Polycystic kidney dysp...	OMIM:619879
Olmsted Syndrome 1	Flexion contracture, Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Hallux valgus, Short stature, Down-sloping shoulders, Sensorineural hea...	OMIM:194050
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tracheomalacia, Osteoporosis	OMIM:203700
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Corneal opacity, Ectopia pupillae, Lens subluxation, Microphthalmia, Hypotriglyceridemia	ORPHA:85167
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis	ORPHA:48104
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter...	ORPHA:90793
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level	OMIM:618165
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas...	OMIM:266810
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Gorlin-Chaudhry-Moss Syndrome	Conductive hearing impairment, Coronal craniosynostosis, Astigmatism, Sclerocornea	ORPHA:2095
Chime Syndrome	Corneal opacity, Abnormality of the kidney, Osteolysis, Acute leukemia, Hydronephrosis, Hearing i...	ORPHA:3474
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Agan...	OMIM:229850
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Recessive X-Linked Ichthyosis	Cryptorchidism, Opacification of the corneal stroma	ORPHA:461
Keppen-Lubinsky Syndrome	Postnatal growth retardation, Flexion contracture, Increased susceptibility to fractures	ORPHA:435628
Insensitivity To Pain, Congenital, With Anhidrosis	Osteomyelitis, Keratitis, Corneal scarring, Corneal ulceration, Abnormal autonomic nervous system...	OMIM:256800
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t...	ORPHA:2911
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Ataxia, Keratitis, Cryptorchidi...	ORPHA:910
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Anomalous origin of left subclavian artery, Patent ductus arteriosus, O...	ORPHA:438213
Microphthalmia, Syndromic 1	Anophthalmia, Hydroureter, Hypospadias, Abnormal pinna morphology, Renal hypoplasia/aplasia, Agan...	OMIM:309800
Smith-Lemli-Opitz Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias...	ORPHA:818
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla...	OMIM:269150
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cryptorc...	ORPHA:649
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Cryptorchidism, Microcornea, Opacification of the corneal stroma, Anterior chamber s...	OMIM:601499
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Thrombocytopenia, Splenomeg...	OMIM:300972
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Splenome...	ORPHA:2136
Mucopolysaccharidosis Type 6	Joint stiffness, Splenomegaly, Mucopolysacchariduria, Opacification of the corneal stroma, Hearin...	ORPHA:583
Multiple Endocrine Neoplasia Type 1	Increased susceptibility to fractures, Cranial nerve compression, Osteolysis, Reduced bone minera...	ORPHA:652
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Hyperopic astigmatism, Increased serum beta-hexosaminidase, ...	OMIM:252600
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Iron deficiency anemia, An...	ORPHA:79408
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Corneal opacity, Joint stiffness, Splenomegaly, Flexion contracture, Dermatan sulfa...	OMIM:253200
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Hutchinson-Gilford Progeria Syndrome	High-frequency sensorineural hearing impairment, Limitation of movement at ankles, Female hypogon...	ORPHA:740
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Abnormality of the kidney, Sensorineural hearing impairment, H...	ORPHA:3320
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Galactosialidosis	Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Visceromega...	OMIM:256540
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Wide penis, Vesicoureteral reflux, Dilatation of renal calices...	ORPHA:3455
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Tyrosinemia Type 2	Ataxia, Corneal opacity	ORPHA:28378
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Hypoalbuminemia, Craniosynostosis, Corneal opacity	ORPHA:79396
Bartsocas-Papas Syndrome 1	Pterygium, Ectopic kidney, Bilateral cryptorchidism, Absent external genitalia, Cupped ear, Flexi...	OMIM:263650
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Cataract, Intrahepatic cholestasis, Anisopoikilocytosis, Horse...	ORPHA:46059
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Decreased circulating antibody level, Anemia, Thrombocy...	ORPHA:169105
Severe Generalized Junctional Epidermolysis Bullosa	Anemia, Osteoporosis, Abnormal fingertip morphology	ORPHA:79404
Larsen Syndrome	Joint laxity, Vertebral fusion, Corneal opacity, Tracheomalacia, Cryptorchidism, Multiple carpal ...	OMIM:150250
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Cataract, ...	ORPHA:709
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,...	OMIM:175780
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Corneal opacity, Camptodactyly of finger, Corneal erosion, Microtia, Atresia...	ORPHA:920
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
46,Xy Partial Gonadal Dysgenesis	Delayed skeletal maturation, Osteoporosis	ORPHA:251510
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Distal Deletion 19P	Long toe, Arachnodactyly, Hypoplasia of the maxilla, Decreased circulating antibody level, Joint ...	ORPHA:96129
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Ophthalmomandibulomelic Dysplasia	Decreased mobility 3rd-5th fingers, Megalocornea, Opacification of the corneal stroma	OMIM:164900
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Small earlobe, Corneal opacity, Hearing impairment	ORPHA:364577
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level,...	ORPHA:227990
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis,...	ORPHA:3109
Moebius Syndrome	Corneal opacity, Hypogonadotropic hypogonadism, Facial palsy, Arthrogryposis multiplex congenita,...	ORPHA:570
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Corneal opacity, Bone cyst, Osteolysis, Iris coloboma	ORPHA:2396
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Corneal opacity, Unilateral renal agenesis, Protruding ear, Pyelonephri...	ORPHA:90348
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Unilateral external ear deformity, Bl...	OMIM:164210
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Anotia, Microtia, Bone marrow hypocellularity, Aplas...	OMIM:614083
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level,...	ORPHA:227982
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals, Rickets, Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Hypoplasia of the fallopian tube, Hyperlipidemia, Protruding ear, Chore...	ORPHA:3464
Yunis-Varon Syndrome	Absent sternal ossification, Hypospadias, Abnormal pinna morphology, Cataract, Cardiomegaly, Scle...	ORPHA:3472
Van Den Ende-Gupta Syndrome	Posteriorly rotated ears, Craniosynostosis, Sclerocornea, Dilatation of the renal pelvis, Overfol...	OMIM:600920
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Increased circulating interleukin 6 concentration, Hypoplastic scapulae, Increased...	OMIM:256040
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Hypospadias, Renal agenesis, Bifid uterus, Cryptorchidism, Hy...	ORPHA:83628
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Mowat-Wilson Syndrome	Uplifted earlobe, Asplenia, Flexion contracture, Calcaneovalgus deformity, Conductive hearing imp...	ORPHA:2152
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Atresia of the external auditory canal, Opacification of the corneal stroma	OMIM:601356
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Sclerocornea, Splenomegaly, Thro...	OMIM:188400
Kindler Epidermolysis Bullosa	Urethral stricture, Corneal opacity, Camptodactyly of finger, Phimosis, Flexion contracture, Neop...	ORPHA:2908
Proteus Syndrome	Hallux valgus, Finger syndactyly, Thymus hyperplasia, Macrodactyly, Craniosynostosis, Joint stiff...	ORPHA:744
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abnormality of the upper urinary t...	ORPHA:2273
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina...	OMIM:258040
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Keratoconjunctivitis, Hematuria, Opacification of the corneal stroma, Cor...	OMIM:158310
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Cupped ear, Overfolded helix, Microtia, Rectovaginal fistula, Vesicour...	OMIM:617466
Floating-Harbor Syndrome	Short metacarpal, Brachydactyly, Short stature, Avascular necrosis of the capital femoral epiphys...	ORPHA:2044
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Fused labia majora, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal e...	ORPHA:90794
Exstrophy-Epispadias Complex	Bifid scrotum, Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnor...	ORPHA:322
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Bone cyst, Clubbing, Arthritis, Inc...	OMIM:181000
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Rieger anomaly, Hypospadias, Abnormal pinna morphology, Preco...	OMIM:194190
Aspartylglucosaminuria	Joint laxity, Short stature, Delayed skeletal maturation, Vacuolated lymphocytes, Neutropenia, Pa...	OMIM:208400
Okamoto Syndrome	Urinary incontinence, Abnormally large globe, Bifid uterus, Splenomegaly, Unilateral renal hypopl...	ORPHA:2729
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul...	ORPHA:449432
Cushing Syndrome Due To Ectopic Acth Secretion	Leukocytosis, Osteoporosis, Stroke, Decreased eosinophil count, Lymphopenia	ORPHA:99889
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Abnormal pinna morphology, Long fingers, O...	ORPHA:79318
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Hearing impairment, Abnormal preputium morphology, Abnormality of the ur...	ORPHA:2907
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Absent external genitalia, Urethral atresia, Aplasia of the va...	OMIM:271520
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Posteriorly rotated ears, Corneal opacity, Sensorineural hearing impairment, Low-set ears, Microp...	OMIM:608670
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility, Opacification of the corneal stroma	OMIM:313400
Familial Calcium Pyrophosphate Deposition	Arthritis, Osteoarthritis, Limitation of joint mobility, Calcification of cartilage	ORPHA:1416
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Buphthalmos, EEG abn...	OMIM:253280
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Sclerocornea	OMIM:300952
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, ...	ORPHA:457284
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ...	ORPHA:425
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Microphthalmia, Heterochromia irid...	ORPHA:42775
Coffin-Siris Syndrome 1	Joint laxity, Hydroureter, Hypospadias, Abnormal pinna morphology, Posteriorly rotated ears, Ecto...	OMIM:135900
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Optic nerve dys...	OMIM:615287
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Abnormal pinna morphology, Bifid uterus, Stillbirth, Low-set ears,...	OMIM:236680
Neu-Laxova Syndrome 1	Cataract, Renal agenesis, Bifid uterus, Cryptorchidism, Joint contracture of the hand, Stillbirth...	OMIM:256520
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Joint hypermobility, Cryptorchidism, Cystocele, Osteolytic defects of the phalanges ...	OMIM:130050
Sotos Syndrome	Joint laxity, Hip contracture, Aganglionic megacolon, Craniosynostosis, Ankle flexion contracture...	ORPHA:821
Townes-Brocks Syndrome 1	Bifid scrotum, Overfolding of the superior helices, Renal insufficiency, Multicystic kidney dyspl...	OMIM:107480
Pontocerebellar Hypoplasia Type 7	Fatigable weakness of skeletal muscles, Abnormal scrotal rugation, Cryptorchidism, Optic atrophy,...	ORPHA:284339
Liver Disease, Severe Congenital	Joint laxity, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Recurrent otitis...	OMIM:619991
Limb Body Wall Complex	Corneal opacity, Abnormality of the kidney, Abnormality of the liver, Lens subluxation, Iris colo...	ORPHA:2369
Oculoectodermal Syndrome	Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid, Bladder exstrophy	OMIM:600268
Phocomelia, Schinzel Type	Hypoplasia of penis, Cryptorchidism, Humeroradial synostosis, Protruding ear, Aplasia of the uterus	ORPHA:2879
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea, Vesicoureteral reflux, Hearing impairment	OMIM:619869
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Aganglionic...	OMIM:308205
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Craniosynostosis, Bifid uterus	ORPHA:1521
Vascular Ehlers-Danlos Syndrome	Keratoconus, Hypospadias, Cryptorchidism, Abnormal pupil morphology, Cystocele, Aplasia/Hypoplasi...	ORPHA:286
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Humeroradial synostosis, E...	OMIM:276820
Yunis-Varon Syndrome	Absent sternal ossification, Hypospadias, Small earlobe, Cataract, Sclerocornea, Cryptorchidism, ...	OMIM:216340
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma, Tinnitus, Hearing impairment, Cardiomegaly	ORPHA:79280
Limb-Mammary Syndrome	Chronic irritative conjunctivitis, Protruding ear, Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Pallister-Killian Syndrome	Small scrotum, Hypospadias, Posteriorly rotated ears, Cataract, Inability to walk, Cryptorchidism...	OMIM:601803
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Loeys-Dietz Syndrome	Joint hyperflexibility, Camptodactyly of finger, Craniosynostosis, Uterine rupture	ORPHA:60030

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
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
Femur - 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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