Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

notch 2
N2,  Motch B

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Notch2 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.

The table below shows human diseases associated to Notch2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Notch2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal cortic... ORPHA:1802
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Meta... ORPHA:79106
Osteochondrosis Of The Metatarsal Bone
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Arth... ORPHA:564003
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Failure to thrive, Rhizomelia, Short humerus, Short femur OMIM:600121
Diaphyseal thickening, Abnormal cortical bone morphology, Finger syndactyly, Curved distal phalan... ORPHA:3152
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... OMIM:600785
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Foot acroosteolysis, Tapered finger, Abnormality of epiphysis morphology... ORPHA:970
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... ORPHA:2790
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... ORPHA:53697
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Familial Expansile Osteolysis
Bowing of the long bones, Thin bony cortex, Osteolysis, Pathologic fracture OMIM:174810
Angioosteohypotrophic Syndrome
Abnormal foot morphology, Upper limb undergrowth, Thin bony cortex, Hypoplasia of the radius, Abn... ORPHA:75508
Hyaline Fibromatosis Syndrome
Progressive flexion contractures, Osteoporosis, Osteolysis, Osteopenia OMIM:228600
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma... ORPHA:2779
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... OMIM:114000
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Short foot, Toe c... ORPHA:166277
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Mu-Heavy Chain Disease
Abnormal B cell count, Weight loss, Osteoporosis, Anemia, Splenomegaly, Osteolysis ORPHA:100024
Dysplastic Cortical Hyperostosis
Limb undergrowth, Increased bone mineral density, Abnormality of limb bone morphology, Abnormal c... ORPHA:2204
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis ORPHA:2776
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Limb underg... OMIM:118651
Weight loss, Abnormality of the metaphysis, Pathologic fracture, Abnormality of the femoral metap... ORPHA:668
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Abnormality of the knee, Osteoarthritis, Abnormal cortical bone morphology, Arthritis, Deviation ... ORPHA:1525
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Juvenile Hyaline Fibromatosis
Joint stiffness, Progressive flexion contractures, Abnormal diaphysis morphology, Osteolysis ORPHA:2028
Dermatoosteolysis, Kirghizian Type
Ankle swelling, Joint contracture of the hand, Split hand, Broad foot, Flexion contracture, Osteo... OMIM:221810
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Abnormality of the epip... ORPHA:2114
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Schmorl's node, Irregular vertebral endplates, Beaking of vertebral bodies, K... OMIM:604864
Gorham-Stout Disease
Abnormality of femur morphology, Osteolysis involving bones of the lower limbs, Osteolysis involv... ORPHA:73
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... OMIM:277950
Rosaï-Dorfman Disease
Anemia, Osteolysis ORPHA:158014
Metatropic Dysplasia
Abnormal cortical bone morphology, Abnormality of the metaphysis, Coarse metaphyseal trabeculariz... ORPHA:2635
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Short iliac bones, Sclerotic foci of metaphyses of the elbow, Sho... OMIM:271530
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 5th metacarpal, Rhizomelia, Pes planus, Femoral bowing, Broad thumb, Shor... OMIM:619638
Cervical platyspondyly, Scoliosis, Camptodactyly of finger, Camptodactyly OMIM:600000
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:600081
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly OMIM:269630
Pericardial effusion, Ascites, Nephrotic syndrome, Bone-marrow foam cells, Nephropathy, Death in ... OMIM:256150
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Vertebral wedging, Epiphyseal dysplasia, Platyspondyly, H... OMIM:617719
Metaphyseal Chondrodysplasia, Spahr Type
Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis morphology, Bowing... ORPHA:2501
Caffey Disease
Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperostosis, Perios... ORPHA:1310
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Platyspondyly, Hip dysplasia, Limitation of joint mob... OMIM:619598
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Micrognathia, Abnormality of epiphysis morphology, Metacarpal osteolysis, Slender long ... ORPHA:2774
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... ORPHA:750
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... OMIM:607078
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Joint stiffness OMIM:616583
Ollier Disease
Anemia, Abnormality of the metaphysis, Joint stiffness, Micromelia, Osteolysis ORPHA:296
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Ramon Syndrome
Failure to thrive, Osteolysis ORPHA:3019
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... OMIM:166740
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Hand polydactyly, L... ORPHA:93405
Tenosynovial Giant Cell Tumor
Abnormal hip joint morphology, Abnormality of the knee, Abnormal shoulder morphology, Abnormality... ORPHA:66627
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity OMIM:264010
Grant Syndrome
Abnormality of the glenoid fossa, Micrognathia, Bowing of the long bones, Abnormal cortical bone ... ORPHA:2097
Keratoderma Hereditarium Mutilans
Honeycomb palmoplantar hyperkeratosis, Osteolysis ORPHA:494
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Genu varum, Abnormal form of the vertebral bodies, Hypophosphatemia, Abnormal bone str... ORPHA:93160
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:300554
Osteopenia And Sparse Hair
Joint laxity, Osteopenia OMIM:259690
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal vertebral morphology, Abnormality of epiphysis morphology, Abnormal sacroiliac joint mor... ORPHA:324964
Ck Syndrome
Micrognathia, Slender build, Abnormal cortical bone morphology, Joint hypermobility, Abnormal dig... OMIM:300831
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, Ovoid vertebral bodi... OMIM:609052
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Upper limb undergrowth, Dysplasia of the femoral head, Reduced bone min... ORPHA:94068
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, ... OMIM:609223
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Increased bone mineral density OMIM:166450
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Avascular necrosis of the capital femor... OMIM:132400
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Small for gestational age, Failure to thrive, Slender build, Osteopenia, Slender long bones with ... ORPHA:50811
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormal foot morphology, Abnormality of the metaphysis, Abnormal diaphysis mo... ORPHA:1657
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Metatarsus adductus, Micrognathia, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Stillbirth OMIM:265880
Holzgreve Syndrome
Renal hypoplasia, Hypoplastic left heart, Renal agenesis OMIM:236110
Lethal Congenital Contracture Syndrome Type 1
Micrognathia, Abnormal cortical bone morphology, Slender long bone, Limitation of joint mobility,... ORPHA:1486
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Metatropic Dysplasia
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... OMIM:156530
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Brachydactylous Dwarfism, Mseleni Type
Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis... ORPHA:2619
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Pedal edema, Increased bone mineral density ORPHA:75325
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Platyspondyly, Increased vertebral height ORPHA:93304
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:241530
Brachyolmia Type 2
Platyspondyly OMIM:613678
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... OMIM:611497
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Genu varum, Irregular acetabular roof, Platyspondyly, Delayed ossification... OMIM:617974
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Genu varum, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal trabecularization,... ORPHA:1952
Osebold-Remondini Syndrome
Tarsal synostosis, Abnormality of the vertebral column, Broad finger, Broad toe, Fibular hypoplas... OMIM:112910
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Hypertrophy of skin of soles, Splenomegaly, Calvarial ... OMIM:176920
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Microphthalmia, Growth delay, Morning glory anomaly, Optic disc coloboma,... OMIM:120200
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Hip subluxation, Hip dislocation, Recurrent fractures, Osteoporosis OMIM:256720
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Pyle Disease
Metaphyseal dysplasia, Hypoplastic frontal sinuses, Metaphyseal widening, Platyspondyly, Genu val... OMIM:265900
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Leri-Weill Dyschondrosteosis
Tibial bowing, Coxa valga, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dor... OMIM:127300
Classic Hodgkin Lymphoma
Weight loss, Splenomegaly, Osteolysis ORPHA:391
Anauxetic Dysplasia 1
Small epiphyses, Cervical subluxation, Short finger, Rhizomelia, Platyspondyly, Short neck, Delay... OMIM:607095
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Short stature, Rhizomelia, Patent ductus arteriosus, Hypoplastic left heart, Ch... OMIM:617661
Bresek Syndrome
Renal hypoplasia, Intrauterine growth retardation, Growth delay, Microphthalmia, Renal dysplasia,... ORPHA:85284
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Bowing o... OMIM:264700
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Synovitis, Osteolysis of talus, Short 4th metacarpal, Osteolysis of scaphoids, Osteolysis of pate... OMIM:609655
Talo-Patello-Scaphoid Osteolysis
Synovitis, Osteolysis of talus, Short 4th metacarpal, Osteolysis of scaphoids, Osteolysis of pate... ORPHA:50809
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Renal malrotation, Microphthalmia, Morning glory anomaly, Ret... OMIM:120330
Hutchinson-Gilford Progeria Syndrome
Micrognathia, Osteolysis, Generalized osteoporosis OMIM:176670
Osteogenesis Imperfecta, Type Xviii
Micrognathia, Thin bony cortex, Bowing of the long bones, Generalized osteoporosis, Joint hypermo... OMIM:617952
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Short stature, Medullary nephrocalcinosis, Re... OMIM:611555
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Platyspondyly, Abnormal vertebral morphology ORPHA:163665
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia, Intrauterine growth retardation, Retinal dysplasia, Coloboma OMIM:615665
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Abnormal foot morphology, Micrognathia, Thin bony cortex, Overtubu... ORPHA:85184
Vitamin D-Dependent Rickets, Type 2A
Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Rickets, Bowing o... OMIM:277440
Lessel-Kubisch Syndrome
Renal hypoplasia, Hypertension, Renal insufficiency, Short stature OMIM:618681
Gnathodiaphyseal Dysplasia
Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Bowing of the long bones, O... OMIM:166260
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Multiple bony cystic lesions, Abno... ORPHA:83451
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Intervertebral space narrowing, Broad tibial metaphyses, I... OMIM:271630
Frank-Ter Haar Syndrome
Genu recurvatum, Brachydactyly, Camptodactyly of finger, Joint stiffness, Clinodactyly of the 5th... ORPHA:137834
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Arachnodactyly, Osteopenia, Long hallux, Broad hallux, Finger clinodactyly OMIM:615923
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Increased susceptibility to fractures, Bowing of the long bones, Abn... OMIM:602080
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Weight loss, Osteoporosis, Anemia, Patholo... ORPHA:98850
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... ORPHA:93284
Infantile Myofibromatosis
Bone cyst, Abnormality of the metaphysis, Limitation of joint mobility, Osteolysis ORPHA:2591
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Proximal femoral metaphyseal irregularity, Irregularity of vertebral bodies, Flat distal femoral ... OMIM:609324
Dent Disease 1
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:300009
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu ... ORPHA:1159
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Brachyolmia, Maroteaux Type
Abnormal form of the vertebral bodies, Scoliosis, Platyspondyly ORPHA:93302
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Elevated circulating creatine kinase concentration, Increase... ORPHA:52430
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Growth delay, Short stature, Renal cyst, Abnormal cardiac septu... OMIM:615583
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Greenberg Dysplasia
Micrognathia, Anterior rib punctate calcifications, Rhizomelia, Abnormal form of the vertebral bo... ORPHA:1426
Ectopic ossification in muscle tissue, Lower limb asymmetry, Failure to thrive, Hyperostosis, Art... ORPHA:2485
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Neonatal death, Renal cyst OMIM:228940
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Failure to thrive in infancy, Abscess, Periostitis, Osteomyelitis, Fused cervical vertebrae, Oste... OMIM:612852
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short 5th metacarpal, Multiple small vertebral fractures, Platyspondyly, S... OMIM:156510
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Microphthalmia, Short stature, Optic nerve hypoplasia, Hyperechogenic kidneys OMIM:617914
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Tapered finger, Failure to thrive, Abnormality of the metaphysis,... ORPHA:157965
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Alagille Syndrome 2
Renal hypoplasia, Hypertension, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hem... OMIM:610205
Progressive Pseudorheumatoid Dysplasia
Enlargement of the proximal femoral epiphysis, Enlarged epiphyses, Genu varum, Enlarged metacarpo... OMIM:208230
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Genu varu... ORPHA:93314
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Abnormality of the vertebral column, Arthralgia of the hip, Abnormal inte... ORPHA:99642
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Stillbirth, Arthrogryposis multipl... OMIM:236500
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the carpal bones, Upper limb undergrowth, Abnormality of epiphysis morphology, Sho... ORPHA:93351
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Osteopenia OMIM:615066
Melnick-Needles Syndrome
Micrognathia, Short clavicles, Bowing of the long bones, Abnormal cortical bone morphology, Abnor... ORPHA:2484
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Pathologic fracture, Femor... OMIM:601559
Autosomal Recessive Hypophosphatemic Rickets
Genu varum, Tibial bowing, Lower limb asymmetry, Abnormality of the lower limb, Abnormal sacroili... ORPHA:289176
Meier-Gorlin Syndrome 8
Renal hypoplasia, Bilateral cryptorchidism, Intrauterine growth retardation OMIM:617564
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Limb undergrowth, Metaphyseal irregularity, Delayed epiphyseal ossification, Short ri... OMIM:602557
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micrognathia, Adducted thumb, Small for gestational age, Decreased fibular diameter, Limb undergr... OMIM:616897
Osteolysis Syndrome, Recessive
Abnormal foot morphology, Distal radial epiphyseal osteolysis, Osteolytic defects of the middle p... OMIM:259610
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Felty Syndrome
Neutropenia, Synovitis, Weight loss, Abnormal lymphocyte morphology, Anemia, Arthritis, Splenomeg... ORPHA:47612
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... OMIM:147891
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormality of femur morphology, Abnormal b... ORPHA:166119
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Split hand, Finger syndact... ORPHA:3329
Hypophosphatemic Bone Disease
Osteomalacia, Bowing of the legs, Rickets OMIM:146350
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Renal hypoplasia, Hepatomegaly, Microphthalmia, Oligohydramnios, Ket... OMIM:619053
Morquio Syndrome C
Platyspondyly OMIM:252300
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Hadziselimovic Syndrome
Renal hypoplasia, Ventricular septal defect, Short stature, Ventricular hypertrophy, Atrial septa... OMIM:612946
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Thin bony cortex, Abnormality of femur morphology, Lower limb asymmetry,... ORPHA:249
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hepatomegaly, Death in infancy, Myopathy, Renal tubular acidosis, Renal dysplas... OMIM:614922
Atelosteogenesis Type I
Micrognathia, Absent or minimally ossified vertebral bodies, Coronal cleft vertebrae, Talipes equ... ORPHA:1190
Metatarsus adductus, Limb joint contracture, Failure to thrive in infancy, Increased circulating ... ORPHA:356961
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Micropenis, Hepatosplenomegaly, Acute pancreatitis, Portal hypertension... OMIM:619487
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Failure to thrive, Slender build, Disharmonious carpal bone, Genu valg... OMIM:608154
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Thin bony cortex, Tibial bowing, Subperiosteal bone resorption, Rickets, Failure to t... ORPHA:289157
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Rheumatoid art... ORPHA:100026
Bruck Syndrome 1
Ankle flexion contracture, Hip contracture, Vertebral wedging, Increased susceptibility to fractu... OMIM:259450
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Limb undergrowth, Massively thickened long bone cortices, Micromelia, Brachydactyly OMIM:122900
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Abnormal sacrum morphology, Coxa vara, Hip dysplasia, Abnormal... ORPHA:1988
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Osteolysis involving bones of the lower limbs, Increased susceptibility to fra... ORPHA:371428
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Irregular vertebral endplates, Beaking of vertebral bodies, Enlarged meta... OMIM:609616
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Cervical kyphosis, Scoliosis OMIM:616566
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Calvarial hyperostosis, Squared i... OMIM:112350
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Metatarsal osteolysis, Ankle swelling, Metacarpal osteolysis, Osteolysis involving ... OMIM:166300
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Osteoporosis OMIM:166710
Duchenne And Becker Muscular Dystrophy
Elevated circulating creatine kinase concentration, Reduced bone mineral density, Slender long bo... ORPHA:262
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Abnormality ... ORPHA:166011
Genu varum, Abnormality of epiphysis morphology, Osteoporosis, Anemia, Abnormal cortical bone mor... ORPHA:2796
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Micrognathia, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly, Osteoarthritis, Hip osteoarthritis OMIM:271600
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Long fingers, Arachnodactyly, Reduced bone mineral density, Osteopeni... OMIM:619489
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Osteogenesis Imperfecta, Type V
Biconcave vertebral bodies, Limited pronation/supination of forearm, Vertebral wedging, Platyspon... OMIM:610967
Microphthalmia, Syndromic 9
Truncus arteriosus, Short stature, Single ventricle, Patent ductus arteriosus, Ventricular septal... OMIM:601186
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Premature epimetaphyseal fusion, Synovitis, Abnormality of epiphysis morphology, Abnormality of l... ORPHA:85435
Bilateral renal hypoplasia, Renal tubular atrophy, Branchial cyst, Abnormal nephron morphology, H... ORPHA:2260
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Coxa vara, U... OMIM:618728
Hypophosphatemic Rickets, Autosomal Dominant
Abnormality of the lower limb, Osteomalacia, Hypophosphatemic rickets, Rickets OMIM:193100
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Ventricular septal defect, Abnormality of mesentery morphology, Polyhydramnios,... ORPHA:2256
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Pericardial effusion, Ascites, Edema, Polycystic kidney dysplasia, Hepatosplenomega... OMIM:608776
Aplasia Cutis Congenita
Abnormality of bone mineral density, Toe syndactyly, Finger syndactyly ORPHA:1114
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Hip contracture, Delayed epiphyseal ossification, Platyspondyly, Wide anterior ... OMIM:601561
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Coxoauricular Syndrome
Abnormality of femur morphology, Reduced bone mineral density, Hip dislocation, Abnormality of pe... ORPHA:1508
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Metaphyseal dappling, Metaphyseal irregularity, Pes planus, Platyspondyly, Gen... OMIM:184250
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Pes planus, Short ... OMIM:251450
Monosomy 5P
Abnormality of bone mineral density, Small hand, Finger syndactyly, Recurrent fractures, Microret... ORPHA:281
Hypophosphatasia, Adult
Abnormal foot morphology, Rickets, Increased susceptibility to fractures, Pathologic fracture, Os... OMIM:146300
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Tapered finger, Short finger, Platyspondyly, Knee flexion contracture, Kyphosis,... OMIM:313420
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Small epiphyses, Micrognathia, Microretrognathia, Hip contracture, Knee dislocation, Coronal clef... OMIM:618363
Gaucher Disease Type 1
Leukopenia, Anemia, Osteopenia, Pathologic fracture, Splenomegaly, Hypersplenism, Increased bone ... ORPHA:77259
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... ORPHA:1505
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Microphthalmia, Retinal dystrophy, Iris coloboma, R... ORPHA:231736
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Osteolysis ORPHA:659
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Lens coloboma, Microphthalmia, Webbed neck, Pulmonic stenosis, Joint contractur... OMIM:618914
Cat-Eye Syndrome
Hydronephrosis, Intrauterine growth retardation, Microphthalmia, Short stature, Chorioretinal col... ORPHA:195
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomeli... OMIM:607143
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Renal agenesis, Abnormal heart morphology, Abnormal cardiac sep... OMIM:618494
Chondroectodermal Dysplasia With Night Blindness
Micrognathia, Metaphyseal dysplasia, Abnormality of the knee, Fractures of the long bones, Talipe... ORPHA:319195
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Fanconi Anemia, Complementation Group I
Horseshoe kidney, Renal hypoplasia, Ventricular septal defect, Intrauterine growth retardation, M... OMIM:609053
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Hitchhiker thumb, Short... ORPHA:56304
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Aplasia/Hypoplasia of the radius, Symphalangism affecting th... ORPHA:2741
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Renal Coloboma Syndrome
Renal hypoplasia, Retinal coloboma, Renal dysplasia, Optic disc coloboma, Multicystic kidney dysp... ORPHA:1475
Metaphyseal Acroscyphodysplasia
Genu varum, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epiphyses of the phala... OMIM:250215
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularity, Trapezoidal distal f... OMIM:307800
Even-Plus Syndrome
Renal hypoplasia, Severe short stature, Recurrent urinary tract infections, Oligohydramnios, Atri... OMIM:616854
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Kyphosis ORPHA:2786
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatosplenomegaly, Reduced renal corticomedullary d... ORPHA:84081
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Intrauterine growth retardation, Microphthalmia, Annular panc... ORPHA:2470
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Microcephaly-Micromelia Syndrome
Micrognathia, Talipes equinovarus, Craniosynostosis, Absent radius, Forearm undergrowth, Oligodac... OMIM:251230
Ivic Syndrome
Leukocytosis, Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Thrombocytopenia, Hyp... OMIM:147750
Hyperparathyroidism, Transient Neonatal
Femoral bowing, Short ribs, Osteopenia OMIM:618188
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Hepatosplenomegaly, Fibular overgrowth, Narrow vertebral in... ORPHA:93352
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Adams-Oliver Syndrome 6
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Hepatic fibrosis, Tricuspid regu... OMIM:616589
Mandibuloacral Dysplasia With Type B Lipodystrophy
Micrognathia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal ph... ORPHA:90154
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... OMIM:108720
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Meckel Syndrome, Type 7
Pancreatic cysts, Right ventricular hypertrophy, Bile duct proliferation, Multiple glomerular cys... OMIM:267010
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Polysplenia, Bile duct proliferation,... OMIM:208540
Cach Syndrome
Renal hypoplasia, Optic atrophy, Intrauterine growth retardation, Growth delay, Pancreatitis, Art... ORPHA:135
Odontochondrodysplasia 1
Genu varum, Genu recurvatum, Short phalanx of finger, Short long bone, Flat acetabular roof, Cone... OMIM:184260
Thanatophoric Dysplasia Type 1
Femoral bowing, Short greater sciatic notch, Abnormal sacroiliac joint morphology, Bowing of the ... ORPHA:1860
Lethal Recessive Chondrodysplasia
Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... ORPHA:1423
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Syncope, Pericardial effusion, Ascites, Vent... OMIM:115197
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Fibular aplasia, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Vitamin D-Dependent Rickets, Type 3
Genu varum, Bowing of the legs, Osteopenia, Flared metaphysis, Metaphyseal cupping OMIM:619073
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Micropenis, Pericardial effusion, Cryptorchidism OMIM:614684
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Platyspondyly ORPHA:93283
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility ORPHA:168555
Calvarial Doughnut Lesions With Bone Fragility
Femoral bowing, Recurrent fractures, Osteoporosis, Osteopenia OMIM:126550
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Short metatarsal, Platyspo... OMIM:271650
Bardet-Biedl Syndrome 3
Renal hypoplasia, Tricuspid regurgitation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Otopalatodigital Syndrome Type 1
Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusion, Bowing of the long bones... ORPHA:90650
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90153
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Decreased body weight, Abnormal cortical bone morphology OMIM:614886
Osteogenesis Imperfecta, Type Xxi
Bowing of the legs, Pes valgus, Osteoporosis, Pes planus, Platyspondyly, Joint hypermobility, Cox... OMIM:619131
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Glomerulopathy, Pericardial effusion, Ascites, Angioedema, Hematuria, Splenomegaly,... ORPHA:36412
Distal Trisomy 6P
Renal hypoplasia, Hydronephrosis, Intrauterine growth retardation, Short stature, Abnormality of ... ORPHA:1745
Hall-Riggs Mental Retardation Syndrome
Metaphyseal dysplasia, Irregular vertebral endplates, Failure to thrive, Osteoporosis, Platyspond... OMIM:234250
Spondylosis, Cervical
Spondylolysis, Spina bifida occulta, Spondylolisthesis, Cervical spondylosis, Osteoarthritis OMIM:184300
Nephronophthisis 13
Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Retinal dystrophy, Stage 5 c... OMIM:614377
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Hepatomegaly, Chronic tubulointerstitial nephritis, Short stature, Rhizomelia, ... OMIM:614376
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Small epiphyses, Tapered finger, Irregular vertebral endplates, Metaphyseal irregularity, Platysp... OMIM:601668
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Micropenis, Tetralogy of Fallot, Short stature OMIM:617926
Bruck Syndrome 2
Talipes equinovarus, Increased susceptibility to fractures, Knee flexion contracture, Osteopenia,... OMIM:609220
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Supernume... OMIM:609813
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis, Biconcave flattened vertebrae OMIM:166230
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Ventricular septal defect, Abnormality of the anterior pituitary, Intrauterine ... ORPHA:75389
Smith-Mccort Dysplasia 1
Irregular epiphyses, Hypoplasia of the odontoid process, Genu varum, Hypoplastic scapulae, Beakin... OMIM:607326
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Fragmented epiphyses, Aplasia/hypoplasia of the extremities, Metaphyseal irregularity... ORPHA:93360
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Pelviscapular Dysplasia
Mesomelic leg shortening, Hypoplastic scapulae, Elbow flexion contracture, Congenital hip disloca... ORPHA:93333
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal foot morphology, Irregular acetabular roof, Kyphoscoliosis, Platyspondyly, Short neck, C... OMIM:184252
Gombo Syndrome
Abnormal heart morphology, Microphthalmia, Delayed puberty OMIM:233270
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Small epiphyses, Micrognathia, Cervical instability, Laryngotracheomalacia, Abnormal vertebral mo... ORPHA:93346
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Arthritis, Sh... OMIM:184100
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly OMIM:608361
Split-Hand/Foot Malformation 3
Renal hypoplasia, Camptodactyly OMIM:246560
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Failure to thrive, Arthritis, Splenomegaly, Lipogranuloma... OMIM:228000
Diffuse Cutaneous Systemic Sclerosis
Narrow foramen obturatorium, Arthritis, Flexion contracture, Osteolysis ORPHA:220393
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal hypoplasia, Renal agenesis, Patent ductus arteriosus, Micropenis, Cryptorchidi... ORPHA:171839
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Tapered finger, Irregular vertebral endplates, Kyphoscoliosis, Jo... OMIM:612350
Lower limb asymmetry, Kyphoscoliosis, Generalized joint laxity, Abnormality of ulnar metaphysis, ... ORPHA:85198
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Emanuel Syndrome
Renal hypoplasia, Ventricular septal defect, Renal agenesis, Truncus arteriosus, Intrauterine gro... OMIM:609029
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Increased intervertebral space, Metaphyseal widening, Limb undergrowth, Bea... OMIM:618961
Meckel Syndrome, Type 4
Meningocele, Ventricular septal defect, Intrauterine growth retardation, Microphthalmia, Bile duc... OMIM:611134
Atelosteogenesis Type Iii
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... ORPHA:56305
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Thrombocytopenia, Fractures of the long bones, Abnormal sacrum m... ORPHA:464329
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Femoral bowing, Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregu... OMIM:608940
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Cerebrooculofacioskeletal Syndrome 2
Death in infancy, Intrauterine growth retardation, Growth delay, Microphthalmia, Micropenis, Camp... OMIM:610756
Microphthalmia, Syndromic 2
Hypospadias, Short stature, Patent ductus arteriosus, Iris coloboma, Remnants of the hyaloid vasc... OMIM:300166
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Abnormality of the lower limb, Ankylosis, Abnormal foot morphology, Osteolysis ORPHA:182
Meckel Syndrome 12
Renal hypoplasia, Renal agenesis, Intrauterine growth retardation, Arthrogryposis multiplex conge... OMIM:616258
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Retinal fold, Microphthalmia, Tractional retinal detachment, Glial remnants anterior... ORPHA:91495
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, R... OMIM:602111
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Unicameral bone... ORPHA:83468
Sapho Syndrome
Synovitis, Abnormal sacroiliac joint morphology, Hyperostosis, Arthritis, Osteomyelitis, Osteolys... ORPHA:793
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Growth delay, Coloboma, Uraciluria OMIM:274270
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... OMIM:616217
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Palmoplantar keratoderma, Arachnodactyly, Osteolysis, Palm... ORPHA:678
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Iliac crest serration, Posterior w... ORPHA:168549
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Abnormality of the vertebral column, Micrognathia, Metaphyseal dysplas... ORPHA:93316
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Rickets OMIM:602722
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Growth delay, Renal dysplasia, Abnormal heart... OMIM:617641
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Platyspondyly, Multiple prenatal fractures, Kyphosis, Bowing of... OMIM:259440
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Pseudohypoparathyroidism, Vesicoureteral reflux, Coloboma, Cryptorchidism ORPHA:464288
Marden-Walker Syndrome
Hypospadias, Renal hypoplasia, Dextrocardia, Decreased muscle mass, Intrauterine growth retardati... OMIM:248700
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Abnormality of the kidney, Abnormality ... ORPHA:1041
Boomerang Dysplasia
Poorly ossified vertebrae, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality ... ORPHA:1263
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Occipital Horn Syndrome
Absent tibia, Rickets, Aplastic clavicle, Pes planus, Synostosis of joints, Brachydactyly, Osteom... ORPHA:198
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Prominent calcaneus, Pes planus, Toe clinodactyly, Limited elbow extensi... ORPHA:457395
Nestor-Guillermo Progeria Syndrome
Micrognathia, Failure to thrive, Osteoporosis, Osteolytic defects of the distal phalanges of the ... OMIM:614008
Bruck Syndrome
Talipes equinovarus, Bowing of the long bones, Osteoporosis, Arthrogryposis multiplex congenita, ... ORPHA:2771
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh... ORPHA:440354
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Nonimmune hydrops fetalis, Hepatic fibrosis, Nephrotic syndrome, Pericardial effusi... OMIM:212065
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Optic disc pallor, Mitral regurgitation, Lacticaciduria, Ne... OMIM:619167
Fanconi Renotubular Syndrome 3
Bowing of the legs, Rickets OMIM:615605
Vacterl Association With Hydrocephalus
Abnormal heart morphology, Renal hypoplasia, Stillbirth OMIM:276950
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhizomelia, Distal shortening of limb... OMIM:300863
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Intrauterine growth retardation, Growth delay, Short stature, Prominent superfi... OMIM:616817
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal pelvis bone morphology, Abnormally ossified vertebrae, Short phala... ORPHA:1427
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volum... OMIM:611590
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Duane-Radial Ray Syndrome
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Renal agenesis, Renal malrotation, Ventricula... OMIM:607323
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Pla... OMIM:211350
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphys... OMIM:608728
Mungan Syndrome
Renal hypoplasia, Perimembranous ventricular septal defect, Tricuspid regurgitation, Pulmonic ste... OMIM:611376
Stüve-Wiedemann Syndrome
Talipes equinovarus, Metaphyseal widening, Thickened cortex of long bones, Osteoporosis, Bowing o... ORPHA:3206
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... ORPHA:93307
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Intrauterine growth retardation, Microphthalmia, Short stature, Pelvic kidney, ... OMIM:603467
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Reduced bone min... ORPHA:93315
Burn-Mckeown Syndrome
Renal hypoplasia, Ventricular septal defect, Atrial septal defect, Hypomimic face OMIM:608572
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Iron deficiency anemia, Rickets, Osteomalacia, Tooth abscess ORPHA:89937
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis OMIM:212780
Cerebrooculofacioskeletal Syndrome 3
Edema, Microphthalmia, Intrauterine growth retardation, Arthrogryposis multiplex congenita OMIM:616570
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates OMIM:612847
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Spondyloepiphyseal Dysplasia, Nishimura Type
Micrognathia, Coxa valga, Wide proximal femoral metaphysis, Abnormal femoral neck/head morphology... ORPHA:163649
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Osteoporosis, Dislocated radial head, Arachnodactyly, Platyspondyly, Joint hyperm... OMIM:614856
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Abnormality of epiphysis morphology, Bowing of the long bones, Rhizomelia, Abnormal... ORPHA:93267
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic... OMIM:174000
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Osteoporosis, Cone-shaped epiphysis ORPHA:71267
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Beaking of vertebral bo... OMIM:231070
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... ORPHA:2064
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Micrognathia, Hypoplastic ilia, Talipes equinovarus, Abnormal vertebral morphology, Abnormality o... ORPHA:93359
Familial Osteodysplasia, Anderson Type
Bifid femur, Increased susceptibility to fractures, Aplastic clavicle, Abnormal cortical bone mor... ORPHA:2769
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Small epiphyses, Proximal femoral epiphysiolysis, Narrow pelvis bone, Craniosynostosis, Platyspon... OMIM:616723
Pseudotrisomy 13 Syndrome
Dextrocardia, Renal hypoplasia, Ventricular septal defect, Renal agenesis, Complete atrioventricu... OMIM:264480
Meckel Syndrome, Type 2
Meningocele, Intrauterine growth retardation, Microphthalmia, Bile duct proliferation, Renal cyst OMIM:603194
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets OMIM:613388
Camptodactyly Syndrome, Guadalajara, Type Ii
Hallux valgus, Short 5th toe, Short middle phalanx of finger, Short 2nd toe, Micrognathia, Talipe... OMIM:211920
Dent Disease
Enlarged epiphyses, Thin bony cortex, Rickets, Bowing of the legs, Abnormality of the lower limb,... ORPHA:1652
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Diaphyseal dysplasi... OMIM:231095
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Short stature, Patent ductus arteriosus, Anomalous branches of internal ca... ORPHA:363705
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly ORPHA:85174
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Femoral bowing, Tibial bowing, Platyspondyly, Flexion contracture, Cervical kyphosis, Joint stiff... OMIM:245160
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Hydronephrosis, Buphthalmos, Intrauterine growth retardation, Pigmentary retino... OMIM:618460
Joubert Syndrome 6
Chorioretinal coloboma, Hepatic fibrosis, Retinal degeneration, Bile duct proliferation, Nephrono... OMIM:610688
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Hydronephrosis, Mild postnatal growth retardation, Ventricular septal defect, P... OMIM:235510
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Pear-shaped vertebrae, Knee osteoa... ORPHA:93356
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... OMIM:223800
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Limb undergrowth, Short ribs, Severe platyspondyly, Disc-like vertebral bodi... OMIM:151210
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Nephrotic syndrome, Ascites, Abnormality of the urinary system, Myositis, H... ORPHA:93552
Senior-Loken Syndrome
Abnormality of bone mineral density, Cone-shaped epiphysis ORPHA:3156
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Optic atrophy, Ragged-red muscle fibers, Abn... OMIM:252011
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Short stature, Mitral stenosis, Atrial septal defect, Aortic valve stenosis, Hy... OMIM:617660
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Joint hypermobility, Bowing of limbs due to multiple fractures, Recurrent fracture... OMIM:615220
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular tarsal ossification, Small epiphyses, Irregular vertebral endplates, Irregular carpal b... OMIM:226980
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Growth delay, Ascites, Pulmonary arterial hypertension, Tricuspid... ORPHA:2414
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Short stature, Renal dysplasia, Telangiectasia of the skin, Cryptorchidism, Hyp... ORPHA:85321
Drug-Induced Lupus Erythematosus
Hematuria, Prolonged QTc interval, Pericarditis, Pericardial effusion ORPHA:231111
Emanuel Syndrome
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Intrauterine growth retardation,... ORPHA:96170
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Renal hypoplasia, Syncope, Renal tubular dysfunction, Prominent U wave, G... ORPHA:37553
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly ORPHA:1345
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Hematuria, Microphthalmia OMIM:120433
H Syndrome
Hallux valgus, Pes planus, Hepatosplenomegaly, Microcytic anemia, Camptodactyly, Recurrent fractu... ORPHA:168569
Geroderma Osteodysplastica
Biconcave vertebral bodies, Talipes, Abnormality of epiphysis morphology, Beaking of vertebral bo... ORPHA:2078
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Femur fracture OMIM:612301
Erdheim-Chester Disease
Abnormality of epiphysis morphology, Weight loss, Anemia, Abnormality of the metaphysis, Osteomye... ORPHA:35687
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Tapered finger, Irregular vertebral endplates, Obesity, Metaphyseal irregularit... OMIM:618395
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Short femur, Scoliosis, Foot oligodactyly OMIM:601357
Mixed Connective Tissue Disease
Leukopenia, Arthritis, Splenomegaly, Joint stiffness, Hemolytic anemia, Osteolysis ORPHA:809
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retinal dysplasia, Optic nerve hypoplasia, Muscular dystrophy, Retinal detachment... OMIM:614643
Biemond Syndrome Type 2
Hypospadias, Microphthalmia, Short stature, Coloboma, Delayed puberty ORPHA:141333
Atelosteogenesis, Type Ii
Micrognathia, Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebr... OMIM:256050
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Retinal nonattachment, Microphthalmia, Retinal fold, Phthisis bulbi, Iris coloboma, ... OMIM:221900
Spondyloperipheral Dysplasia
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... OMIM:271700
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Multiple prenatal fractures, Type 1 collagen overmodification, Oste... OMIM:610915
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Anterior beaking of lumbar vertebrae, Kyphosis OMIM:230650
Osteogenesis Imperfecta, Type Vi
Biconcave vertebral bodies, Beaking of vertebral bodies, Increased susceptibility to fractures, V... OMIM:613982
Irregular vertebral endplates, Abnormality of the metaphysis, Platyspondyly, Coarse metaphyseal t... ORPHA:1782
Cantu Syndrome
Metaphyseal widening, Broad first metatarsal, Osteoporosis, Platyspondyly, Large for gestational ... OMIM:239850
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Splenomegaly, Osteopenia, Pathologic fracture, Thrombocytopenia, H... OMIM:263700
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Intrauterine growth retardation, Growth delay, Decreased response to growth hor... OMIM:617784
Renal Tubular Acidosis Iii
Osteomalacia, Rickets OMIM:267200
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Renal dysplasia, Prolonged neonatal jaundice, Ventricular s... OMIM:118450
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion, Abnormality of the peritoneum ORPHA:48686
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Bicuspid aortic valve, Short stature, Unilateral microphthalmos, Coloboma, Bila... OMIM:619318
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Splenomegaly, Osteopenia, Rickets OMIM:211600
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Warburg Micro Syndrome 4
Optic atrophy, Decreased muscle mass, Microphthalmia, Severe postnatal growth retardation, Short ... OMIM:615663
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Short stature OMIM:257910
Thalidomide Embryopathy
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t... ORPHA:3312
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Bowing of the legs, Reduced bone mineral density, Pathologic fracture, Osteomalacia, Hypophosphat... ORPHA:157215
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Hydronephrosis, Short stature, Umbilical hernia, Congenital diaphragmatic herni... OMIM:618454
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Rhizomelia, Platyspondyly, Splenomegaly, Coxa vara, Sh... OMIM:602271
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Hajdu-Cheney Syndrome
Absent frontal sinuses, Splenomegaly, Short toe, Micrognathia, Partial absence of toe, Bowing of ... ORPHA:955
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Polyhydramnios, Abnormal liver parenchyma morphology, Abnormal biliary tract mor... ORPHA:3032
X-Linked Hypophosphatemia
Genu varum, Rickets, Reduced bone mineral density, Bowing of the legs, Generalized osteosclerosis... ORPHA:89936
Osteogenesis Imperfecta, Type Xvii
Vertebral compression fracture, Osteoporosis, Scoliosis, Platyspondyly OMIM:616507
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Growth delay, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypo... ORPHA:137902
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Renal hypoplasia, Severe postnatal growth retardation, Anteriorly displaced ure... OMIM:266810
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Webbed neck, Edema, Arthrogryposis multiplex congenita, Micropenis, Camptod... OMIM:617822
Cockayne Syndrome Type 3
Subdural hemorrhage, Aortic root aneurysm, Premature coronary artery atherosclerosis, Increased b... ORPHA:90324
Dermatosparaxis Ehlers-Danlos Syndrome
Micrognathia, Coxa valga, Rickets, Avascular necrosis of the capital femoral epiphysis, Osteoporo... ORPHA:1901
Osteogenesis Imperfecta, Type Xvi
Small for gestational age, Rhizomelia, Osteopenia, Joint hypermobility, Mesomelia OMIM:616229
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia, Morning glo... OMIM:165550
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Intrauterine growth retardation, Short stature, Retinal detachment, Remnants of t... ORPHA:2714
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Pallister-Hall Syndrome
Renal hypoplasia, Hydronephrosis, Ventricular septal defect, Intrauterine growth retardation, Thy... OMIM:146510
Increased intervertebral space, Short ribs, Absent frontal sinuses, Progressive bowing of long bo... OMIM:224300
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Biconcave vertebral bodies, Genu varum, Flat capital femoral epiphysis, Laryngotracheomalacia, Ne... OMIM:271510
Hardikar Syndrome
Cholangitis, Short stature, Intrahepatic bile duct cysts, Patent ductus arteriosus, Splenomegaly,... OMIM:301068
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hepatic calcification, Pericardial effusion, Nephrocalcinosis, Abnormal r... ORPHA:73224
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Hepatic fibrosis, Ascites, Short stature, Renal cyst, Polycystic k... OMIM:614091
Q Fever
Myocarditis, Hepatomegaly, Abnormal vascular morphology, Pericarditis, Pericardial effusion, Endo... ORPHA:781
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Metaphyseal dysplasia, Cervical instability, Kyphoscoliosis, Decreased circulating antibody level... OMIM:617425
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Platyspondyly ORPHA:85172
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Gm1-Gangliosidosis, Type Ii
Coxa valga, Platyspondyly, Sea-blue histiocytosis OMIM:230600
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Pericard... OMIM:618775
Faciocardiomelic Syndrome
Micrognathia, Thin bony cortex, Polydactyly, Large for gestational age, Osteopenia, Slender long ... OMIM:612731
Microphthalmia With Limb Anomalies
Talipes equinovarus, Abnormal form of the vertebral bodies, Finger syndactyly, Synostosis of join... ORPHA:1106
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hydroureter, Patent ductus arteriosus, Polyhydramnios, Abnormality of the upper u... ORPHA:2547
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis, Platyspondyly OMIM:184840
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Platyspondyly, Os... OMIM:242900
Kniest Dysplasia
Hip contracture, Coronal cleft vertebrae, Flattened, squared-off epiphyses of tubular bones, Dela... OMIM:156550
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Trisomy 13
Optic atrophy, Hydronephrosis, Abnormality of the ureter, Intrauterine growth retardation, Ventri... ORPHA:3378
Acrorenal Syndrome, Autosomal Recessive
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency OMIM:201310
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary...