Gene: Tnfrsf11b MGI:109587

Gene Summary

Name:

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

Synonyms:

TR1, osteoclastogenesis inhibitory factor, OCIF, Opg, OPG

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased body length	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
corneal opacity	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	7.12×10^-07
decreased prepulse inhibition	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	8.30×10^-05
preweaning lethality, incomplete penetrance	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
blind uterus	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating phosphate level	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	3.19×10^-12
abnormal skin morphology	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased locomotor activity	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	3.50×10^-05
abnormal brain morphology	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
small spleen	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal gait	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	2.03×10^-06
decreased grip strength	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	7.14×10^-05
enlarged kidney	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal auditory brainstem response	Tnfrsf11b^em1(IMPC)Mbp	HOM	Early adult	1.55×10^-05
abnormal eye morphology	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.

Phenotype associated images not available

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 (1283 diseases)

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

Disease	Matching phenotypes	Source
Juvenile Paget Disease	Osteoporosis, Short stature, Hearing impairment, Coarse metaphyseal trabecularization, Recurrent ...	ORPHA:2801
Paget Disease Of Bone 5, Juvenile-Onset	Increased bone mineral density, Short humerus, Lateral femoral bowing, Osteoporosis, Ankylosis, S...	OMIM:239000
Familial Calcium Pyrophosphate Deposition	Limitation of joint mobility, Calcification of cartilage, Osteoarthritis, Arthritis	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	Progressive hearing impairment, Conductive hearing impairment, Childhood onset sensorineural hear...	OMIM:611572
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pinna ...	OMIM:128980
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Abnormal auditory evoked potentials, Sensorineural hearing impair...	OMIM:609129
Calcification Of Joints And Arteries	Coronary artery calcification, Femoral arterial calcification, Iliac arterial calcification, Ecto...	OMIM:211800
Deafness-Ear Malformation-Facial Palsy Syndrome	Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Abnormal a...	ORPHA:3232
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteoporosis, Osteopenia, Hearing impairment	OMIM:615269
Deafness, X-Linked 2	Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu...	OMIM:304400
Deafness, Conductive, With Malformed External Ear	Low-set ears, Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pin...	OMIM:221300
Deafness, Autosomal Dominant 85	Cochlear nerve hypoplasia, Sensorineural hearing impairment	OMIM:620227
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis	OMIM:608805
Deafness, Autosomal Recessive 9	Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses	OMIM:601071
Mazabraud Syndrome	Bone pain, Recurrent fractures, Fibrous dysplasia of the bones	ORPHA:57782
Conductive Deafness-Malformed External Ear Syndrome	Low-set ears, Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pin...	ORPHA:3216
Gnathodiaphyseal Dysplasia	Osteopenia, Thickened cortex of long bones, Recurrent fractures, Mandibular osteomyelitis, Bowing...	ORPHA:53697
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Ane...	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	Sclerosis of foot bone, Joint stiffness, Abnormality of the fifth metatarsal bone, Abnormality of...	ORPHA:564003
Deafness, Progressive, With Stapes Fixation	Bilateral conductive hearing impairment, Stapes ankylosis	OMIM:601449
Progressive Deafness With Stapes Fixation	Bilateral conductive hearing impairment, Stapes ankylosis	ORPHA:3235
Deafness-Hypogonadism Syndrome	Abnormality of the internal auditory canal, Conductive hearing impairment, Abnormality of the mid...	ORPHA:90646
Multiple Synostoses Syndrome 4	Tarsal synostosis, Otosclerosis	OMIM:617898
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia, Hearing impairment	OMIM:615271
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Hearing impairment, Bowing of limbs due to multiple fractures, Incr...	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	Low-set ears, Osteoporosis, Short stature, Thrombocytopenia, Macrotia, Growth delay, Delayed skel...	OMIM:613606
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Rare Circulatory System Disease	Vascular calcification, Abnormal metatarsal morphology, Decreased finger mobility, Abnormal finge...	ORPHA:98028
Deafness, Autosomal Recessive 104	Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit...	OMIM:616515
Extensor Tendons Of Finger Anomalies	Osteoporosis, Camptodactyly of finger, Limitation of joint mobility	ORPHA:3294
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Diaphyseal thickening, Cranial hyp...	ORPHA:3416
Osteogenesis Imperfecta, Type I	Finger joint hypermobility, Osteopenia, Hearing impairment, Otosclerosis, Increased susceptibilit...	OMIM:166200
Stapes Ankylosis With Broad Thumbs And Toes	Short distal phalanx of finger, Conductive hearing impairment, Stapes ankylosis, Congenital stape...	OMIM:184460
Symphalangism, Proximal, 1A	Conductive hearing impairment, Stapes ankylosis, Proximal symphalangism of hands, Distal symphala...	OMIM:185800
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Abnormal cortic...	ORPHA:3152
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Osteomyelitis, ...	OMIM:166260
Eiken Syndrome	Epiphyseal dysplasia, Abnormal fingertip morphology, Short phalanx of finger, Abnormal trabecular...	ORPHA:79106
Immunodeficiency 24	Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level...	OMIM:615897
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Short distal phalanx of finger, Joint hyperflexibility, Brachydactyly	ORPHA:2787
Monosomy 5P	Low-set, posteriorly rotated ears, Abnormality of bone mineral density, Finger syndactyly, Intrau...	ORPHA:281
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu...	ORPHA:2790
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Otosclerosis 10	Otosclerosis	OMIM:615589
Renal, Genital, And Middle Ear Anomalies	Abnormality of the middle ear ossicles, Hearing impairment	OMIM:267400
Pyle Disease	Absent paranasal sinuses, Limited elbow extension, Reduced bone mineral density, Hypoplastic fron...	OMIM:265900
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Del...	OMIM:600785
Familial Expansile Osteolysis	Osteolysis, Conductive hearing impairment, Pathologic fracture, Bone pain, Thin bony cortex, Bowi...	OMIM:174810
Winchester Syndrome	Generalized osteoporosis, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis	OMIM:277950
Deafness, Autosomal Dominant 77	Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment	OMIM:618915
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Atresia Of External Auditory Canal And Conductive Deafness	Aplasia/Hypoplasia of the middle ear, Atresia of the external auditory canal, Conductive hearing ...	OMIM:108760
Congenital Disorder Of Glycosylation, Type Iik	Low-set ears, Posteriorly rotated ears, Osteoporosis, Short stature, Joint laxity, Thrombocytopen...	OMIM:614727
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
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res...	OMIM:616452
Immunodeficiency 105	Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt...	OMIM:619924
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteoporosis, Osteopenia, Hearing impairment	OMIM:615267
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Abnormal hip bone mo...	ORPHA:970
Weismann-Netter Syndrome	Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Ab...	ORPHA:3344
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Low-set ears, High-frequency sensorineural hearing impairment, Osteopenia, 2-3 toe syndactyly, Jo...	ORPHA:2324
Osteogenesis Imperfecta, Type Xiv	Short stature, Osteopenia, Increased susceptibility to fractures, Sensorineural hearing impairmen...	OMIM:615066
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Increased circulating IgE level, Increased circulating IgG level, Clubbing of...	OMIM:618982
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Hyaline Fibromatosis Syndrome	Low-set ears, Osteolysis, Osteoporosis, Progressive flexion contractures, Osteopenia, Flexion con...	OMIM:228600
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Pathologic fracture, Upper limb undergrowth, Limitation of joi...	ORPHA:166277
Chondroectodermal Dysplasia With Night Blindness	Epiphyseal dysplasia, Osteoporosis, Short stature, Osteopenia, Metaphyseal irregularity, Wide hum...	ORPHA:319195
Calciphylaxis	Arterial calcification, Ectopic ossification	ORPHA:280062
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteogenesis Imperfecta, Type Xxii	Reduced bone mineral density, Intrauterine growth retardation, Multiple prenatal fractures, Short...	OMIM:619795
Arterial Calcification, Generalized, Of Infancy, 1	Coronary artery calcification, Abdominal aortic calcification, Generalized arterial calcification...	OMIM:208000
Metaphyseal Chondrodysplasia, Spahr Type	Reduced bone mineral density, Metaphyseal chondrodysplasia, Short lower limbs, Abnormal metaphysi...	ORPHA:2501
Coronary Artery Disease, Autosomal Dominant 2	Gout, Osteoporosis, Premature coronary artery atherosclerosis	OMIM:610947
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of limb bone morphology, Increased bone mineral density, Abnormal cortical bone morph...	ORPHA:2204
Hypophosphatasia, Adult	Rickets, Chondrocalcinosis, Pathologic fracture, Osteomalacia, Increased susceptibility to fractu...	OMIM:146300
Osteopenia And Sparse Hair	Joint laxity, Osteopenia	OMIM:259690
Branchiootic Syndrome	Conductive hearing impairment, Abnormality of the inner ear, Atresia of the external auditory can...	ORPHA:52429
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures, ...	OMIM:166740
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis, Progressive sensorineural hearing ...	OMIM:136300
Osteogenesis Imperfecta, Type Xix	Severe short stature, Rhizomelia, Multiple prenatal fractures, Osteopenia, Hearing impairment, Re...	OMIM:301014
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Low-set ears, Coxa valga, Osteoporosis, Finger clinodactyly	ORPHA:2958
Hypergonadotropic Hypogonadism-Cataract Syndrome	Reduced bone mineral density, Delayed skeletal maturation, Osteoporosis, Recurrent fractures	ORPHA:2410
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Osteoporosis, Delayed skeletal maturation, Short stature	OMIM:618625
Albers-Schönberg Osteopetrosis	Generalized osteosclerosis, Short distal phalanx of finger, Abnormal metaphysis morphology, Anemi...	ORPHA:53
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad long bones, Broad femoral head, Sclerosis of middle finger phalanx, Broad radial metaphysis...	ORPHA:85188
Prieto Syndrome	Low-set ears, Osteoporosis, Coxa valga, Radial deviation of finger, Clinodactyly	OMIM:309610
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Reduced bone mineral density, Genu varum, Delayed ossification of carpal bones, Irregular acetabu...	OMIM:617974
Intermediate Osteopetrosis	Hepatosplenomegaly, Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormal...	ORPHA:210110
Branchiogenic Deafness Syndrome	Conductive hearing impairment, Aplasia/Hypoplasia of the inner ear, Underdeveloped tragus, Abnorm...	ORPHA:50815
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Abnormal diaphysis morphology, Flexion contracture of toe, Increased cir...	ORPHA:3409
Multiple Synostoses Syndrome 1	Stapes ankylosis, Lower limb undergrowth, Carpal synostosis, Absent distal phalanges, Progressive...	OMIM:186500
Juvenile Paget Disease	Osteoporosis, Short stature, Hearing impairment, Coarse metaphyseal trabecularization, Recurrent ...	ORPHA:2801
Calvarial Doughnut Lesions With Bone Fragility	Severe short stature, Mixed hearing impairment, Osteoporosis, Osteopenia, Recurrent fractures, Fe...	OMIM:126550
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Low-set ears, Conductive hearing impairment, Underdeveloped tragus, Abnormal antih...	ORPHA:79113
Solitary Bone Cyst	Lytic defects of the radius, Pathologic fracture, Bone pain, Abnormal ilium morphology, Abnormal ...	ORPHA:83468
Gorham-Stout Disease	Patchy reduction of bone mineral density, Osteolysis, Abnormality of the internal auditory canal,...	ORPHA:73
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Bone pain, Increased spinal bone density, Recurrent fractures	ORPHA:329475
Intellectual Developmental Disorder, Autosomal Dominant 2	Cholesteatoma	OMIM:614113
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Short stature, Cone-shaped epiphysis, Osteoporosis, Sensorineural hearing impairment	ORPHA:71267
Angioosteohypotrophic Syndrome	Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Prominent superficial veins...	ORPHA:75508
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Partial duplication of the distal phalanx of the hallux, Broad th...	ORPHA:949
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Bone cyst, Basal ganglia calcification, Pathologic fracture, Osteopenia	OMIM:618193
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Osteoporosis, Short metatarsal, Short metacarpal, Synostosis of c...	ORPHA:93351
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Tenosynovial Giant Cell Tumor	Osteolysis, Conductive hearing impairment, Abnormality of the auditory canal, Joint stiffness, Lo...	ORPHA:66627
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Osteopenia, Contracture of the proximal interphalangeal joint of the 3rd finger, J...	OMIM:130060
Bruck Syndrome 1	Osteoporosis, Knee flexion contracture, Protrusio acetabuli, Joint laxity, Increased susceptibili...	OMIM:259450
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia, Hearing impairment	OMIM:615266
Caffey Disease	Calvarial hyperostosis, Increased circulating antibody level, Cortical thickening of long bone di...	ORPHA:1310
Cranio-Osteoarthropathy	Deviation of finger, Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthriti...	ORPHA:1525
Deafness, X-Linked 5, With Peripheral Neuropathy	Tinnitus, Abnormal middle ear reflexes, Hearing impairment, Abnormal speech discrimination, Verti...	OMIM:300614
Metatropic Dysplasia	Camptodactyly of finger, Abnormal cortical bone morphology, Abnormal metaphysis morphology, Joint...	ORPHA:2635
Hip Dysplasia, Beukes Type	Hip dysplasia, Abnormality of bone mineral density, Osteoarthritis, Abnormal epiphysis morphology...	ORPHA:2114
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula...	OMIM:600791
Charcot-Marie-Tooth Disease, Type 4B1	Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity	OMIM:601382
Familial Hyperprolactinemia	Osteoporosis, Osteopenia	ORPHA:397685
Osteogenesis Imperfecta, Type V	Limited pronation/supination of forearm, Hyperextensibility at elbow, Osteopenia, Anterior radial...	OMIM:610967
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Posteriorly rotated ears, Delayed ossification of carpal bones, Sho...	OMIM:618392
Arterial Calcification, Generalized, Of Infancy, 2	Arterial calcification, Coronary artery calcification, Hypophosphatemic rickets	OMIM:614473
Isolated Glycerol Kinase Deficiency	Osteoporosis	ORPHA:408
Caffey Disease	Calvarial hyperostosis, Bowing of the legs, Cortical irregularity, Joint hypermobility, Periostea...	OMIM:114000
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion o...	OMIM:615559
Osteopetrosis, Autosomal Dominant 2	Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur...	OMIM:166600
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Camptodactyly of finger, Joint stiffness, Genu varum, Metaphyseal widening, F...	OMIM:208230
Osteoporosis-Pseudoglioma Syndrome	Metaphyseal widening, Osteoporosis, Abnormal femoral neck/head morphology, Osteopenia, Crumpled l...	ORPHA:2788
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Progressive hearing impairment, Osteoporosis, Short stature, Bowing of ...	OMIM:613849
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal	OMIM:618013
Warburg Micro Syndrome 1	Low-set ears, Overlapping toe, Osteoporosis, Short stature, Macrotia, Joint hypermobility, Optic ...	OMIM:600118
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Reduced bone mineral density, Low-set, posteriorly rotated ears, Hip dysplasia, Abnormal metaphys...	ORPHA:2370
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615270
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Metaphyseal chondrodysplasia, Lymphopenia, Agammaglobulinemia	OMIM:200900
Hereditary Arterial And Articular Multiple Calcification Syndrome	Arterial tortuosity, Coronary artery calcification, Abnormal vascular morphology, Arterial calcif...	ORPHA:289601
Non Rare In Europe: Buschke-Ollendorff Syndrome	Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Abnormal metaphysis morphology, Bo...	ORPHA:1306
Mycetoma	Abnormal appendicular skeleton morphology, Abnormal forearm bone morphology, Pathologic fracture,...	ORPHA:2583
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Osteoporosis, Syndactyly, Hearing impairment, Growth delay, Microtia	OMIM:616006
Chromosome Xq21 Deletion Syndrome	Progressive sensorineural hearing impairment, Conductive hearing impairment, Incomplete partition...	OMIM:303110
Bor Syndrome	External ear malformation, Abnormality of the middle ear ossicles, Atresia of the external audito...	ORPHA:107
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of...	ORPHA:1486
Genetic Recurrent Myoglobinuria	Recurrent myoglobinuria, Acute kidney injury, Difficulty walking, Exercise-induced myoglobinuria,...	ORPHA:99845
Idiopathic Juvenile Osteoporosis	Osteoporosis, Bone pain, Recurrent fractures	ORPHA:85193
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Decreased glomerular filtration rate, Increased circulating renin level, Hyperp...	OMIM:601198
Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity	Limited elbow extension, Hypoplastic ilia, Hip dislocation, Hip dysplasia, Ulnar deviation of fin...	ORPHA:93359
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Bulging epiphyses, Bone pain, Delayed epiphyseal ossification, Femoral bowing, Sparse bo...	OMIM:600081
Variant Abeta2M Amyloidosis	Pathologic fracture, Multiple bony cystic lesions, Wrist pain, Abnormal vascular morphology, Card...	ORPHA:314652
Mu-Heavy Chain Disease	Abnormal B cell count, Osteolysis, Anemia, Osteoporosis, Splenomegaly	ORPHA:100024
Basal Ganglia Calcification, Idiopathic, Childhood-Onset	Calcification of the small brain vessels, Limb joint contracture, Basal ganglia calcification, De...	OMIM:114100
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Low-set ears, Stapes ankylosis, Syndactyly, Short stature, Clinodactyly of the 5th finger, Short ...	OMIM:614701
Branchiogenic-Deafness Syndrome	Atresia of the external auditory canal, Sensorineural hearing impairment, Abnormality of the midd...	OMIM:609166
Paget Disease Of Bone 2, Early-Onset	Osteolysis, Osteosclerosis of the ulna, Bone pain, Short femur, Fractures of the long bones, Incr...	OMIM:602080
Grant Syndrome	Abnormal cortical bone morphology, Bowing of the long bones, Abnormality of the glenoid fossa, De...	ORPHA:2097
Osteogenesis Imperfecta, Type Iii	Severe generalized osteoporosis, Wide anterior fontanel, Multiple prenatal fractures, Slender lon...	OMIM:259420
Neutropenia, Chronic Familial	Clubbing of fingers, Clubbing, Increased circulating antibody level, Neutropenia	OMIM:162700
Rhyns Syndrome	Conductive hearing impairment, Osteoporosis, Short stature, Osteopenia, Short femoral neck, Short...	OMIM:602152
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Complete or near-complete absence of specific antibody re...	ORPHA:70593
Hypoparathyroidism, Familial Isolated, 1	Cataract, Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Dysplasia Epiphysealis Hemimelica	Joint stiffness, Genu varum, Bone pain, Osteoarthritis, Abnormal epiphysis morphology, Irregular ...	ORPHA:1822
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Stillbirth, Decreased calvarial ossification, Multiple prenatal fractures, Bowing of limbs due to...	OMIM:259410
Optic Atrophy 8	Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Sensorineural hea...	OMIM:616648
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Bulging epiphyses, Bone pain, Osteomalacia, Hypophosphatemic rickets, Delayed epiphyseal...	OMIM:300554
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity, Progressive cerebellar ataxia, Ataxia	ORPHA:3177
Polycystic Kidney Disease 5	Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,...	OMIM:617610
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Reduced bone mineral density, Protruding ear, Osteoporosis, Dislo...	OMIM:614856
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Increased susceptibility to fractures, Osteopenia	OMIM:612287
Ck Syndrome	Retrognathia, Abnormal cortical bone morphology, Malar flattening, Abnormal digit morphology, Mic...	OMIM:300831
Coxoauricular Syndrome	Reduced bone mineral density, Hip dislocation, Atresia of the external auditory canal, Short stat...	ORPHA:1508
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Low-set, posteriorly rotated ears, Intrauterine growth retardation, Decreased calvarial ossificat...	ORPHA:2772
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis	ORPHA:2786
Marshall-Smith Syndrome	Craniosynostosis, Reduced bone mineral density, Conductive hearing impairment, Slender long bone,...	ORPHA:561
Perrault Syndrome 1	Short stature, Osteoporosis, Sensorineural hearing impairment	OMIM:233400
Idiopathic Hypercalciuria	Osteoporosis, Osteopenia	ORPHA:2197
Microtia With Meatal Atresia And Conductive Deafness	Aplasia/Hypoplasia of the middle ear, Anotia, Conductive hearing impairment, Microtia	OMIM:251800
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Bruck Syndrome 2	Knee flexion contracture, Osteopenia, Increased susceptibility to fractures, Femoral bowing, Flex...	OMIM:609220
Bruck Syndrome	Joint stiffness, Osteoporosis, Recurrent fractures, Arthrogryposis multiplex congenita, Bowing of...	ORPHA:2771
Osteosarcoma	Abnormal tibial metaphysis morphology, Osteolysis, Abnormal metaphysis morphology, Pathologic fra...	ORPHA:668
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Hepatomegaly, Corneal opacity, Microphthalmia	ORPHA:2432
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Increased bone mineral density, Abnormal diaphysis morphology, Wide anterior fontanel, Coxa valga...	ORPHA:85184
Proteus Syndrome	Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Splenomegaly, Thin bony cor...	OMIM:176920
Osteogenesis Imperfecta, Type Xvi	Conductive hearing impairment, Rhizomelia, Short stature, Osteopenia, Hearing impairment, Decreas...	OMIM:616229
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Severe postnatal growth retardation, Bilateral sensorineural hearing impairment, Osteoporosis, In...	ORPHA:73272
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Osteoporosis, Joint laxity	OMIM:616033
Branchiootic Syndrome 1	Low-set ears, Cochlear malformation, Mixed hearing impairment, Cupped ear, Sensorineural hearing ...	OMIM:602588
Multiple Enchondromatosis, Maffucci Type	Multiple enchondromatosis, Pathologic fracture	OMIM:614569
Cranioectodermal Dysplasia	Craniosynostosis, Short distal phalanx of finger, Abnormal metaphysis morphology, Abnormal diaphy...	ORPHA:1515
Van Buchem Disease	Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis	OMIM:239100
Osteogenesis Imperfecta, Type Xxi	Osteoporosis, Coxa valga, Recurrent fractures, Joint hypermobility, Bowing of the legs, Bowing of...	OMIM:619131
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Intrauterine growth retardation, Short stature, Dense metaphyseal bands, Osteopenia, Sensorineura...	ORPHA:50811
Osteogenesis Imperfecta, Type Xi	Short stature, Osteopenia, Hearing impairment, Protrusio acetabuli, Joint laxity, Increased susce...	OMIM:610968
Sialidosis Type 2	Osteoporosis, Short stature, Hearing impairment, Flexion contracture, Splenomegaly	ORPHA:87876
Alkaptonuria	Reduced bone mineral density, Coronary artery calcification, Joint stiffness, Osteoarthritis, Art...	ORPHA:56
Hepatorenocardiac Degenerative Fibrosis	Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Renal interstitial fibrosis, Enlarged kid...	OMIM:619902
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Brachyolmia Type 1, Hobaek Type	Flat acetabular roof, Sclerotic foci of metaphyses of the elbow, Short iliac bones, Osteopenia, F...	OMIM:271530
Odontochondrodysplasia 1	Genu varum, Metaphyseal cupping, Metaphyseal widening, Delayed ossification of carpal bones, Oste...	OMIM:184260
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cranial nerve morphology, Abn...	ORPHA:1782
Mucopolysaccharidosis Type 2	Conductive hearing impairment, Abnormal epiphyseal ossification, Papilledema, Decreased nerve con...	ORPHA:580
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Increased susceptibility to fractures, Osteopenia	OMIM:612286
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteoporosis, Genu valgum, Osteopenia	OMIM:614880
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Cryptorchidism, External ear malformation, Astigmatism, Hyperp...	ORPHA:2323
17Q24.2 Microdeletion Syndrome	Recurrent otitis media, Progressive conductive hearing impairment, Otosclerosis, Microtia	ORPHA:529962
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Multiple prenatal fractures, Bowing of limbs due to multiple fractures, Decrea...	OMIM:259440
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Bulging epiphyses, Bone pain, Hypophosphatemic rickets, Delayed epiphyseal ossification,...	OMIM:241530
Usher Syndrome Type 3	Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment	ORPHA:231183
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Aplasia/Hypoplasia of the middle ear, Atresia of the external auditory canal, Conductive hearing ...	ORPHA:3236
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Low-set ears, Enlarged kidney, Ambiguous genitalia, Microphthalmia, ...	OMIM:613885
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Broad thumb, Femoral bowing, Short 5th metacarpal, Thin bony cortex, Delaye...	OMIM:619638
Smith-Magenis Syndrome	EEG abnormality, Short stature, Abnormality of the outer ear, Hearing impairment, Short palm, Mor...	OMIM:182290
Xq21 Microdeletion Syndrome	Conductive hearing impairment, Stapes ankylosis, Bilateral sensorineural hearing impairment, Abno...	ORPHA:1435
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Osteogenesis Imperfecta, Type Xviii	Generalized osteoporosis, Femoral bowing, Joint laxity, Recurrent fractures, Thin bony cortex, Jo...	OMIM:617952
Premature Aging Syndrome, Okamoto Type	Low-set ears, Osteoporosis, Abnormal pinna morphology	OMIM:601811
Deafness, Autosomal Dominant 9	Tinnitus, Vertigo, Abnormality of the vestibulocochlear nerve, Cochlear degeneration, Postlingual...	OMIM:601369
Oculoauriculovertebral Spectrum With Radial Defects	Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the inner e...	ORPHA:2549
Hypocalcemic Vitamin D-Resistant Rickets	Osteolysis, Abnormal metaphysis morphology, Genu varum, Abnormal hip bone morphology, Bone pain, ...	ORPHA:93160
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Iris coloboma, Microphthalmia, Microcoria	OMIM:616428
Hall-Riggs Mental Retardation Syndrome	Osteoporosis, Delayed skeletal maturation, Metaphyseal dysplasia, Brachydactyly	OMIM:234250
Mucolipidosis Type Iii	Craniofacial hyperostosis, Reduced bone mineral density, Joint stiffness, Hypoplastic inferior il...	ORPHA:577
Autoimmune Hypoparathyroidism	Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Calcium nephrolithiasis, Conjun...	ORPHA:36913
Usher Syndrome Type 1	Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment	ORPHA:231169
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Reduced bone mineral density, Abnormality of limb bone morphology, Interphalangeal joint erosions...	ORPHA:85435
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, EEG abnormality, Facial palsy, Sensorineural hearing impairm...	OMIM:617519
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia...	OMIM:615285
Osteopetrosis, Autosomal Recessive 1	Craniosynostosis, Increased bone mineral density, Pathologic fracture, Anemia, Femur fracture, Ca...	OMIM:259700
Vitamin D-Dependent Rickets, Type 2A	Rickets, Bulging epiphyses, Bone pain, Hearing impairment, Delayed epiphyseal ossification, Growt...	OMIM:277440
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c...	OMIM:619707
Dysosteosclerosis	Sclerosis of hand bone, Abnormal metaphyseal trabeculation, Osteopenia, Hearing impairment, Broad...	OMIM:224300
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short distal phalanx of finger, Protruding ear, Metaphyseal irregularity, Increased susceptibilit...	ORPHA:93315
Progressive Pseudorheumatoid Arthropathy Of Childhood	Generalized osteoporosis, Enlarged epiphyses, Camptodactyly, Genu varum, Abnormal hip joint morph...	ORPHA:1159
Spondylo-Ocular Syndrome	Low-set ears, Abnormal antihelix morphology, Osteoporosis, Disproportionate short-trunk short sta...	ORPHA:85194
Rhyns Syndrome	Hypoplastic ilia, Abnormal long bone morphology, Osteopenia, Hearing impairment, Abnormal acetabu...	ORPHA:140976
Pseudopseudohypoparathyroidism	Brachydactyly, Osteoporosis, Short metacarpal, Short metatarsal	OMIM:612463
Immunodeficiency, Common Variable, 6	Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t...	OMIM:613496
Blue Diaper Syndrome	Blue urine, Hyperphosphatemia, Nephrocalcinosis, Hypercalcemia	ORPHA:94086
Desbuquois Dysplasia 1	Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short metatarsal, A...	OMIM:251450
Grange Syndrome	Syndactyly, Short palm, Increased susceptibility to fractures, Patent ductus arteriosus, Arterial...	ORPHA:79094
Generalized Arterial Calcification Of Infancy	Stroke, Pancreatic calcification, Abnormal calcification of the carpal bones, Calcification of th...	ORPHA:51608
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Low-set ears, Cryptorchidism, Micropenis, Posteriorly rotated ears, Hypocalcemic seizures, Hyperp...	OMIM:241410
Immunodeficiency 62	Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin...	OMIM:618459
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Osteopetrosis, Autosomal Recessive 2	Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia,...	OMIM:259710
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Craniosynostosis, Osteopenia, Eosinophilia, Cutaneous abscess, Recurrent fractures, Joint hypermo...	OMIM:147060
Microphthalmia, Syndromic 12	Cryptorchidism, Microphthalmia, Neonatal death, Bicornuate uterus, Anophthalmia	OMIM:615524
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Osteoporosis, Intrauterine growth retardation, Short stature, Abnormalit...	ORPHA:48431
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ...	OMIM:603909
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy, Recurrent fractures	ORPHA:2773
Osteopetrosis, Autosomal Dominant 3	Anemia, Splenomegaly, Osteopenia, Recurrent fractures	OMIM:618107
Mucopolysaccharidosis Type 2, Severe Form	Camptodactyly of finger, Conductive hearing impairment, Papilledema, Arthritis, Otosclerosis, Sen...	ORPHA:217085
Osteogenesis Imperfecta, Type Viii	Wide anterior fontanel, Short metacarpal, Multiple prenatal fractures, Osteopenia, Slender long b...	OMIM:610915
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Sensorineural hearing impairment, Corneal dystrophy	ORPHA:1490
Mucopolysaccharidosis Type 2, Attenuated Form	Camptodactyly of finger, Conductive hearing impairment, Papilledema, Arthritis, Otosclerosis, Sen...	ORPHA:217093
Analbuminemia	Osteoporosis, Patent ductus arteriosus	OMIM:616000
Schwartz-Jampel Syndrome, Type 1	Low-set ears, Congenital hip dislocation, Flexion contracture of toe, Metaphyseal widening, Osteo...	OMIM:255800
Pseudohypoparathyroidism, Type Ic	Cataract, Hypogonadism, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH a...	OMIM:612462
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Reticulocytosis, Anemia, Thrombocytopenia, Osteopetrosis, Recurre...	OMIM:611490
Neonatal Severe Primary Hyperparathyroidism	Abnormal metaphysis morphology, Splenomegaly, Short stature, Recurrent fractures	ORPHA:417
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Bulging epiphyses, Bone pain, Delayed epiphyseal ossification, Femoral bowing, Sparse bo...	OMIM:264700
Congenital Bile Acid Synthesis Defect Type 1	Osteoporosis, Splenomegaly	ORPHA:79301
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Knee osteoarthritis, Camptodactyly of toe, Camptodactyly of finger, ...	ORPHA:2848
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Cleidocranial Dysplasia	Chronic otitis media, Hearing impairment, Decreased skull ossification, Coxa vara, Brachydactyly,...	ORPHA:1452
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Hypoplastic ilia, Hip dislocation, Hip dysplasia, Aortic root aneurysm, Advanced ossification of ...	OMIM:615349
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis, Thickened cortex of long bon...	OMIM:607634
Diamond-Blackfan Anemia 7	Short thumb, Osteoporosis, Atresia of the external auditory canal, Intrauterine growth retardatio...	OMIM:612562
Indolent Systemic Mastocytosis	Osteoporosis, Abnormal mast cell morphology, Mastocytosis, Increased proportion of CD25+ mast cel...	ORPHA:98848
Dent Disease 1	Rickets, Bulging epiphyses, Bone pain, Osteomalacia, Delayed epiphyseal ossification, Femoral bow...	OMIM:300009
19P13.3 Microduplication Syndrome	Low-set ears, Hip dislocation, Hip dysplasia, Posteriorly rotated ears, Osteoporosis, Intrauterin...	ORPHA:447980
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Pathologic fracture, Anemia, Osteopetrosis, Cortical sclerosis	OMIM:620366
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Hip dislocation, Abnormal cortical bon...	ORPHA:2484
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Reduced bone mineral density, Venous insufficiency, Recurrent fractures, Arteriovenous malformation	ORPHA:137608
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Genu varum, Irregular, rachitic-like metaphyses, Bone pain, Osteomalacia, Delayed epiphy...	ORPHA:289157
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia	OMIM:154275
Malignant Hyperthermia, Susceptibility To, 1	Elevated circulating creatine kinase concentration, Hyperphosphatemia, Myoglobinuria, Hyperkalemia	OMIM:145600
Pseudohypoparathyroidism, Type Ib	Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia	OMIM:603233
Spondyloepiphyseal Dysplasia Congenita	Reduced bone mineral density, Laryngotracheomalacia, Flat acetabular roof, Osteoporosis, Dispropo...	ORPHA:94068
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Generalized osteoporosis, Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:391487
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Craniosynostosis, Low-set ears, Intrauterine growth retardation, Osteopenia, Metaphyseal dysplasi...	OMIM:614732
Trisomy 13	Cataract, Hydronephrosis, Low-set ears, Cryptorchidism, Abnormal morphology of female internal ge...	ORPHA:3378
Schinzel-Giedion Syndrome	Short distal phalanx of finger, Abnormal cochlea morphology, Large earlobe, Short 1st metacarpal,...	ORPHA:798
Intermediate Nemaline Myopathy	Low-set ears, Facial diplegia, Multiple prenatal fractures, Facial palsy, Flexion contracture, Ar...	ORPHA:171433
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Pathologic fracture, Stenosis of the medullary cavity of the long bones, Metaphyseal striations, ...	OMIM:112250
Epiphyseal Chondrodysplasia, Miura Type	Fifth finger distal phalanx clinodactyly, Osteopenia, Broad hallux, Long hallux, Arachnodactyly, ...	OMIM:615923
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia	OMIM:154276
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypercalciuria, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis	OMIM:618234
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Clinodactyly, Osteoporosis	OMIM:614838
Congenital Disorder Of Glycosylation, Type Iiy	Reduced bone mineral density, Delayed skeletal maturation, Hip subluxation	OMIM:620200
Microphthalmia, Isolated, With Coloboma 5	Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Hyperzincemia With Functional Zinc Depletion	Osteoporosis, Vasculitis	OMIM:601979
Cerebrooculofacioskeletal Syndrome 1	Camptodactyly, Arthrogryposis multiplex congenita, Abnormality of the ear, Osteoporosis, Knee fle...	OMIM:214150
Osteogenesis Imperfecta, Type Xvii	Reduced bone mineral density, Hip dislocation, Thin metacarpal cortices, Thin long bone diaphyses...	OMIM:616507
Metaphyseal Chondrodysplasia, Schmid Type	Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr...	ORPHA:174
Paget Disease Of Bone 5, Juvenile-Onset	Increased bone mineral density, Short humerus, Lateral femoral bowing, Osteoporosis, Ankylosis, S...	OMIM:239000
Brachydactylous Dwarfism, Mseleni Type	Osteoarthritis of the elbow, Knee osteoarthritis, Stiff shoulders, Osteopenia, Brachytelomesophal...	ORPHA:2619
Methylcobalamin Deficiency Type Cble	Osteoporosis, Intrauterine growth retardation, Syndactyly, Macrocytic anemia, Hearing impairment,...	ORPHA:2169
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteolysis, Coarctation of aorta, Osteoporosis, Osteolysis involving bones of the lower limbs, Br...	ORPHA:371428
Immunodeficiency 64 With Lymphoproliferation	Hepatosplenomegaly, Increased circulating IgA level, Autoimmune thrombocytopenia, Increased propo...	OMIM:618534
Mohr-Tranebjaerg Syndrome	Progressive sensorineural hearing impairment, Increased susceptibility to fractures, Postlingual ...	OMIM:304700
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Decrease...	OMIM:615513
Sickle Cell Anemia	Leukocytosis, Reticulocytosis, Hemolytic anemia, Hypochromic anemia, Osteoporosis, Persistence of...	ORPHA:232
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Hip dislocation, Ivory epiphyses of the toes, Irregular tarsal ossification...	OMIM:226980
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Hypsarrhythmia, Inability to walk, Prominent ear helix, Multifocal epileptiform discharges, Large...	ORPHA:411986
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Pseudohypoparathyroidism, Type Ia	Cataract, Hypogonadism, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration,...	OMIM:103580
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Calvarial hyperostosis, Osteolysis, Abnormal long bone morphology, Pathologic fracture, Short sta...	ORPHA:52430
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Spinal muscular atrophy, type I, with congenital bone fractures	Congenital hip dislocation, Arachnodactyly, Multiple prenatal fractures, Rocker bottom foot, Oste...	OMIM:271225
Majeed Syndrome	Increased bone mineral density, Leukocytosis, Bone pain, Metaphyseal irregularity, Osteomyelitis,...	ORPHA:77297
Craniosynostosis And Dental Anomalies	Chronic otitis media, Coronal craniosynostosis, Conductive hearing impairment, Hallux valgus, Sta...	OMIM:614188
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Low-set ears, Fractured radius, Decreased fibular diameter, Posteriorly rotated ears, Intrauterin...	OMIM:616897
Short Stature, Dauber-Argente Type	Reduced bone mineral density, Decreased fibular diameter, Osteopenia, Long fingers, Long toe, Ara...	OMIM:619489
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Osteolysis, Leukocytosis, Pathologic fracture, Anemia, Leukemia, Osteoporosis...	ORPHA:98850
Cantu Syndrome	Metaphyseal widening, Osteoporosis, Coxa valga, Erlenmeyer flask deformity of the femurs, Hypopla...	OMIM:239850
Hypophosphatemic Rickets	Rickets, Craniofacial osteosclerosis, Joint stiffness, Enthesitis, Calcification of the aorta, Bo...	ORPHA:437
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polycystic kidney dysplasia, Enlarged kidney, Hepatomegaly, Elevated circulating creatine kinase ...	OMIM:608836
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Bilateral sensorineural hearing impairment, Optic disc pallor, Short stature, Hearing im...	OMIM:268315
Nephronophthisis 16	Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Cholestasis, Renal ...	OMIM:615382
Brittle Cornea Syndrome	Camptodactyly, Conductive hearing impairment, Hip dysplasia, Hallux valgus, Osteoporosis, Abnorma...	ORPHA:90354
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Vascular calcification, Subperiosteal bone formation, Hyperostosis	OMIM:211900
Niemann-Pick Disease, Type A	Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Osteoporosis, Sea-blue histioc...	OMIM:257200
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Hip dislocation, Aortic root aneurysm, Generalized joint laxity, Osteoporosis, Sho...	OMIM:618000
Spondyloepiphyseal Dysplasia Tarda	Localized osteoporosis, Abnormality of the tibial plateaux, Flattened femoral head, Abnormal shou...	ORPHA:93284
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal opacity, Corneal dystrophy	OMIM:300779
Metaphyseal Chondrodysplasia, Jansen Type	Metaphyseal chondrodysplasia, Severe short stature, Pathologic fracture, Metaphyseal cupping, Kne...	OMIM:156400
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Hutchinson-Gilford Progeria Syndrome	Generalized osteoporosis, Osteolysis, Premature coronary artery atherosclerosis, Precocious ather...	OMIM:176670
Menkes Disease	Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Intracranial hemorrhage, Joint laxity	OMIM:309400
Hypophosphatasia, Infantile	Craniosynostosis, Short lower limbs, Anemia, Metaphyseal cupping, Intracranial hemorrhage, Stillb...	OMIM:241500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment	OMIM:125250
Nasu-Hakola Disease	Reduced bone mineral density, Bone pain, Abnormal epiphysis morphology, Cerebral calcification, B...	ORPHA:2770
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Stroke, Lower limb pain, Vascular granular osmiophilic material deposition, Arteriosclerosis, Loc...	ORPHA:199354
Oncogenic Osteomalacia	Abnormality of fibula morphology, Pathologic fracture, Bone pain, Abnormal pelvis bone morphology...	ORPHA:352540
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Matthew-Wood Syndrome	Low-set ears, Cryptorchidism, Abnormal spleen morphology, Horseshoe kidney, Microphthalmia, Abnor...	ORPHA:2470
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Low-set ears, Pathologic fracture, Intrauterine growth retardation, Osteopenia, Contracture of th...	OMIM:612394
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Iris coloboma, Microphthalmia, Posterior embryotoxon, Sensorineural hearing impairment,...	ORPHA:1473
Nephronophthisis 2	Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar...	OMIM:602088
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Osteoporosis, Short stature, Osteopenia, Growth delay	ORPHA:369
Alkaptonuria	Coronary artery calcification, Vertebral fusion, Aortic aneurysm, Limited shoulder movement, Arth...	OMIM:203500
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Polycystic ovaries, Hyperphosphatemia, Hearing impairment, Abnormal penis morphology, Abnormal te...	ORPHA:457059
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:615767
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Deafness, Autosomal Dominant 80	Cochlear aplasia, Morphological abnormality of the semicircular canal, Dilated vestibule of the i...	OMIM:619274
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Decreased ci...	OMIM:612692
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Low-set ears, Conductive hearing impairment, Abnormality of the middle...	ORPHA:2789
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Hepatomegaly, Corneal opacity, Abnormality of the liver	ORPHA:1980
Hjv Or Hamp-Related Hemochromatosis	Osteoporosis	ORPHA:79230
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating total IgM, Chronic sinusitis, Abnormal T cell morphology, Decreased circula...	OMIM:613502
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Infantile Systemic Hyalinosis	Camptodactyly of finger, Joint stiffness, Osteoporosis, Osteopenia, Osteomalacia, Short palm, Inc...	ORPHA:2176
Galactosialidosis	Corneal opacity, Hearing impairment	ORPHA:351
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ...	OMIM:212050
Achondrogenesis Type 1A	Abnormal enchondral ossification, Short palm, Short foot, Recurrent fractures	ORPHA:93299
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH ad...	ORPHA:94090
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Short middle phalanx of the 5th finger, Flared metaphysis, Short middle phalanx of the 2nd finger...	OMIM:156510
Cockayne Syndrome Type 2	Cryptorchidism, Gait disturbance, Ataxia, Difficulty walking, Hepatomegaly, Hearing impairment, M...	ORPHA:90322
Cockayne Syndrome Type 1	Cataract, Proteinuria, Cryptorchidism, Gait disturbance, Ataxia, Anemia, Difficulty walking, Abse...	ORPHA:90321
Multicentric Osteolysis, Nodulosis, And Arthropathy	Interphalangeal joint contracture of finger, Thin bony cortex, Broad metatarsal, Camptodactyly of...	OMIM:259600
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Reduced bone mineral density, Pathologic fracture, Bone pain, Hypophosphatemic rickets, Osteomala...	ORPHA:157215
Geroderma Osteodysplastica	Hip dislocation, Osteoporosis, Abnormal epiphysis morphology, Joint hyperflexibility, Recurrent f...	ORPHA:2078
Shashi-Pena Syndrome	Low-set ears, Posteriorly rotated ears, Osteoporosis, Intrauterine growth retardation, Short meta...	OMIM:617190
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Immunodeficiency 43	Lung abscess, Reduced natural killer cell count, Decreased circulating IgG level, B lymphocytopen...	OMIM:241600
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Decreased nerve conduction velocity, Hearing impairment, Abnormal auditory e...	OMIM:601455
Immunodeficiency 70	Decreased circulating total IgM, Decreased circulating total IgA, Decreased circulating total IgG...	OMIM:618969
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Microscopic hematuria, Renal tubular atrophy, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Bet...	OMIM:308990
Pycnodysostosis	Hepatosplenomegaly, Generalized osteosclerosis, Coronal craniosynostosis, Increased bone mineral ...	ORPHA:763
Pachydermoperiostosis	Osteolysis, Abnormal cortical bone morphology, Genu varum, Anemia, Osteoporosis, Bone pain, Abnor...	ORPHA:2796
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating total IgM, Decreased circulating IgA level, Absent circulating B cells, Aga...	OMIM:613500
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Renal tubular atrophy, Inability to walk, Leukopenia, Enlarged kidney, Anemia, Bone ...	OMIM:617303
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia	Optic disc hypoplasia, EEG abnormality, Optic nerve hypoplasia, Unilateral microphthalmos, Cornea...	ORPHA:137902
Gaucher Disease, Type Iii	Vascular calcification, Thrombocytopenia, Pancytopenia, Splenomegaly	OMIM:231000
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ...	OMIM:619824
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Osteoporosis, Hearing impairment	OMIM:560000
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Increased...	OMIM:618944
Pendred Syndrome	Enlarged vestibular aqueduct, Abnormality of the inner ear, Vertigo, Hypoplasia of the cochlea, S...	ORPHA:705
Hypophosphatasia	Craniosynostosis, Abnormal metaphysis morphology, Anemia, Recurrent fractures, Bowing of the long...	ORPHA:436
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal cochlea morphology, Prelingual sensorineural hearin...	ORPHA:52368
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Bone cyst, Basal ganglia calcification, Pathologic fracture	OMIM:221770
Abcd Syndrome	Abnormal auditory evoked potentials, Total intestinal aganglionosis, Aganglionic megacolon, Heari...	OMIM:600501
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Hip dislocation, Hip dysplasia, Joint stiffness, Avascular necrosis of the capital femor...	ORPHA:1901
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Reduced bone mineral density, Conductive hearing impairment, C...	ORPHA:1488
Immunodeficiency 102	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ...	OMIM:301082
Thrombocytopenia 6	Osteoporosis, Thrombocytopenia, Myelofibrosis	OMIM:616937
Agammaglobulinemia 3, Autosomal Recessive	Absent isohemagglutinin level, Abnormal T cell morphology, Absent circulating B cells, Agammaglob...	OMIM:613501
Multiple Pterygium Syndrome, X-Linked	Short finger, Low-set ears, Vertebral fusion, Intrauterine growth retardation, Increased suscepti...	OMIM:312150
Trichorhinophalangeal Syndrome, Type Iii	Short finger, Accelerated bone age after puberty, Protruding ear, Avascular necrosis of the capit...	OMIM:190351
Lateral Meningocele Syndrome	Low-set ears, Conductive hearing impairment, Vertebral fusion, Abnormality of the middle ear ossi...	OMIM:130720
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Decreased circulating IgA level, Decreased circulating Ig...	OMIM:606843
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Broad distal phalanges of all fingers, Hip dislocation, Rhizomelia, Shoulder dislocation, Acceler...	OMIM:245600
Walker-Warburg Syndrome	Cataract, Low-set ears, Cryptorchidism, Iris coloboma, Protruding ear, Posteriorly rotated ears, ...	ORPHA:899
Geroderma Osteodysplasticum	Camptodactyly, Osteoporosis, Osteopenia, Increased susceptibility to fractures, Recurrent fractur...	OMIM:231070
Autosomal Recessive Cutis Laxa Type 2A	Congenital hip dislocation, Wide anterior fontanel, Intrauterine growth retardation, Hearing impa...	ORPHA:357058
Autosomal Recessive Hypophosphatemic Rickets	Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Distal femoral bowi...	ORPHA:289176
Osteogenesis Imperfecta, Type Ii	Broad long bones, Multiple prenatal fractures, Crumpled long bones, Absent ossification of calvar...	OMIM:166210
Pontocerebellar Hypoplasia, Type 2E	Osteoporosis, Short stature, Large earlobe, Flexion contracture, Optic atrophy	OMIM:615851
Neuroleptic Malignant Syndrome	Proteinuria, Acute kidney injury, Leukocytosis, Hyperuricemia, Urinary incontinence, Hyperphospha...	ORPHA:94093
Greenberg Dysplasia	Absent or minimally ossified vertebral bodies, Metaphyseal cupping, Rhizomelia, Multiple prenatal...	OMIM:215140
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Leukocytosis, Decreased circulating IgA level, Reduced natural k...	OMIM:619281
Maffucci Syndrome	Osteolysis, Bone pain, Short stature, Multiple enchondromatosis, Recurrent fractures, Growth delay	ORPHA:163634
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Enamel hypoplasia, Abnormal epiphysis morphology, Brachydactyly,...	ORPHA:2643
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ...	OMIM:618987
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Thrombocytopenia, ...	ORPHA:859
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Aplastic anemia, Avascular necrosis of the capital femoral epiphysis, Osteoporosis, B...	OMIM:613990
Beta-Thalassemia Intermedia	Hepatosplenomegaly, Reduced bone mineral density, Leukocytosis, Extramedullary hematopoiesis, Ost...	ORPHA:231222
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteoporosis, Osteopenia	ORPHA:529665
Gómez-López-Hernández Syndrome	Low-set ears, Corneal opacity, Ataxia	ORPHA:1532
Peroxisome Biogenesis Disorder 12A (Zellweger)	Double outlet right ventricle, Wide anterior fontanel, Abnormal cortical bone morphology, Patent ...	OMIM:614886
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Joint hypermobility, Reduced bone mineral density, Recurrent fractures	OMIM:619115
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level	OMIM:247800
Craniodiaphyseal Dysplasia, Autosomal Dominant	Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis	OMIM:122860
Dent Disease 2	Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Elevated circulating creatine kinase ...	OMIM:300555
Insulin-Like Growth Factor I Deficiency	Intrauterine growth retardation, Short stature, Osteopenia, Sensorineural hearing impairment, Pos...	OMIM:608747
Paget Disease Of Bone 6	Osteoarthritis, Bone pain, Coronary artery atherosclerosis, Recurrent fractures	OMIM:616833
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
X Small Rings	Reduced bone mineral density, Protruding ear, Osteoporosis, Lower limb undergrowth, Cutaneous syn...	ORPHA:96201
Hypercalcemia, Infantile, 2	Hypophosphatemia, Nephrocalcinosis, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalc...	OMIM:616963
Microphthalmia With Brain And Digit Anomalies	Cataract, Cryptorchidism, Iris coloboma, Microphthalmia, Sclerocornea, Sensorineural hearing impa...	ORPHA:139471
Multiple Pterygium Syndrome, Lethal Type	Short finger, Low-set ears, Vertebral fusion, Intrauterine growth retardation, Increased suscepti...	OMIM:253290
Xp21 Deletion Syndrome	Reduced bone mineral density, Osteoporosis, Finger clinodactyly, Recurrent otitis media, Joint la...	ORPHA:261476
Autosomal Dominant Hyper-Ige Syndrome	Craniosynostosis, Chronic otitis media, Increased circulating IgE level, Osteopenia, Eosinophilia...	ORPHA:2314
Campomelic Dysplasia	Low-set ears, Tracheomalacia, Hip dislocation, Hypoplastic inferior ilia, Bowing of the long bone...	ORPHA:140
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Cystinosis	Proteinuria, Hypophosphatemia, Gait disturbance, Renal insufficiency, Nephropathy, Hypokalemia, R...	ORPHA:213
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Low-set ears, Generalized joint laxity, Abnormal hip bone morphology, Osteopenia, Abnormality of ...	ORPHA:251028
Cataract-Microcornea Syndrome	Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea	ORPHA:1377
Roifman Syndrome	Hepatosplenomegaly, Intrauterine growth retardation, Short stature, Decreased circulating antibod...	ORPHA:353298
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Aa Amyloidosis	Proteinuria, Acute kidney injury, Abnormality of the kidney, Chronic kidney disease, Enlarged kid...	ORPHA:85445
Linear Verrucous Nevus Syndrome	Cataract, Abnormality of the kidney, Hypophosphatemia, Iris coloboma, Aplasia/Hypoplasia of the f...	ORPHA:2611
Mucopolysaccharidosis, Type Ivb	Joint stiffness, Hip dysplasia, Pointed proximal second through fifth metacarpals, Metaphyseal wi...	OMIM:253010
Cutis Laxa, Autosomal Recessive, Type Iiib	Hip dislocation, Prominent ear helix, Posteriorly rotated ears, Osteoporosis, Intrauterine growth...	OMIM:614438
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ...	OMIM:619846
Fibrous Dysplasia Of Bone	Rickets, Patchy reduction of bone mineral density, Osteolysis, Fibrous dysplasia of the bones, Ab...	ORPHA:249
Vitamin D-Dependent Rickets, Type 3	Genu varum, Metaphyseal cupping, Osteopenia, Flared metaphysis, Bowing of the legs	OMIM:619073
Pseudoxanthoma Elasticum, Forme Fruste	Arteriosclerosis, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Medial calc...	OMIM:177850
Duchenne And Becker Muscular Dystrophy	Reduced bone mineral density, Joint stiffness, Slender long bone	ORPHA:262
Systemic Mastocytosis With Associated Hematologic Neoplasm	Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono...	ORPHA:98849
Microphthalmia, Syndromic 9	Hydronephrosis, Low-set ears, Cryptorchidism, Hypoplastic spleen, Bilateral microphthalmos, Horse...	OMIM:601186
Cernunnos-Xlf Deficiency	Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T...	ORPHA:169079
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Hyperechogenic ki...	OMIM:263200
Peroxisome Biogenesis Disorder 3B	Osteoporosis, Sensorineural hearing impairment	OMIM:266510
Charcot-Marie-Tooth Disease, Type 4C	Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,...	OMIM:601596
Acrodysostosis 1 With Or Without Hormone Resistance	Blue irides, Cryptorchidism, Hypogonadism, Unilateral renal agenesis, Hyperphosphatemia, Hearing ...	OMIM:101800
Osteoglophonic Dysplasia	Camptodactyly of finger, Short thumb, Rhizomelia, Short metatarsal, Broad thumb, Increased suscep...	OMIM:166250
Denys-Drash Syndrome	Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Ambiguous genitalia...	OMIM:194080
Stuve-Wiedemann Syndrome 1	Clubbing, Pathologic fracture, Contracture of the proximal interphalangeal joint of the 5th finge...	OMIM:601559
Pseudohypoparathyroidism Type 1A

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