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
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c... ORPHA:1802
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Eiken Syndrome
Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Broad foot, Delayed epi... ORPHA:79106
Osteochondrosis Of The Metatarsal Bone
Pedal edema, Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Str... ORPHA:564003
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology, Diaphyseal u... ORPHA:3416
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Failure to thrive, Short humerus, Short femur OMIM:600121
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas... ORPHA:3152
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab... ORPHA:970
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteomyelitis, R... ORPHA:53697
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Osteolysis, Bowing of the long bones OMIM:174810
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Hyaline Fibromatosis Syndrome
Osteopenia, Osteoporosis, Failure to thrive, Flexion contracture, Progressive flexion contracture... OMIM:228600
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Aplasia/hypoplasia in... ORPHA:75508
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis ORPHA:2776
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic... ORPHA:3344
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis OMIM:608805
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin... ORPHA:166277
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Limb undergrowth, Abnormal cortical bone morphology, Abnormal lim... ORPHA:2204
Mu-Heavy Chain Disease
Anemia, Osteoporosis, Splenomegaly, Abnormal B cell count, Weight loss, Osteolysis ORPHA:100024
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Abnormal metaphysis morphology, Abnormal femoral metaphysis morphology, Weight loss, Pathologic f... ORPHA:668
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Juvenile Hyaline Fibromatosis
Joint stiffness, Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis ORPHA:2028
Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Joint stiffness, Deviati... ORPHA:1525
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Cortical irregularity, Perio... OMIM:114000
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Genu valgum, Hypoplastic frontal sinuses, ... OMIM:265900
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Hip dysplasia, Coxa vara, Broad ... ORPHA:2114
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Osteolysis involving bones of ... ORPHA:73
Rosaï-Dorfman Disease
Anemia, Osteolysis ORPHA:158014
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Pes planus, Short 5th metacarpal, ... OMIM:619638
Caffey Disease
Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortical irregularity, Corti... ORPHA:1310
Metatropic Dysplasia
Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger... ORPHA:2635
Death in childhood, Renal insufficiency, Bone-marrow foam cells, Ascites, Nephrotic syndrome, Per... OMIM:256150
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Reduced bone mineral density, Bowing of the long bones, Short low... ORPHA:2501
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Metacarpal osteolysis, Carpal osteolysis, Slender long bone, Cachexia, Limitation of joint mobili... ORPHA:2774
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Me... OMIM:617974
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple prenatal frac... OMIM:619795
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... OMIM:619598
Ollier Disease
Abnormal metaphysis morphology, Anemia, Micromelia, Joint stiffness, Osteolysis ORPHA:296
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Increased bone mineral density, Failure to thrive, Metaphyseal dysplasia, D... OMIM:615198
Osteopenia And Sparse Hair
Osteopenia, Joint hypermobility OMIM:259690
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Joint stiffness, Irregular ... OMIM:604864
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi... OMIM:600081
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Arthralgia of the hip, Small epiphyses, Delayed ossification of... OMIM:607078
Ramon Syndrome
Failure to thrive, Osteolysis ORPHA:3019
Keratoderma Hereditarium Mutilans
Honeycomb palmoplantar hyperkeratosis, Autoamputation of digits, Osteolysis ORPHA:494
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... OMIM:617719
Grant Syndrome
Abnormal cortical bone morphology, Decreased skull ossification, Bowing of the long bones, Abnorm... ORPHA:2097
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... ORPHA:750
Ck Syndrome
Abnormal cortical bone morphology, Abnormal digit morphology, Micrognathia, Slender build, Joint ... OMIM:300831
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Abnormal form of the v... ORPHA:93160
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly OMIM:269630
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Paget Disease Of Bone 2, Early-Onset
Vertebral compression fracture, Sandwich appearance of vertebral bodies, Osteosclerosis of the ul... OMIM:602080
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal metaphysis morphology, Abnormal vertebral morphology, Anemia, Elevated circulating C-rea... ORPHA:324964
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet... ORPHA:94068
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Osteopenia, Squared-off platyspondyly, Lumbar hypolordosis, Platyspondyly, Int... OMIM:271530
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Increased bone mineral density OMIM:166450
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypertension, Edema, Hypopigmentation of the fundus, Stage ... OMIM:609049
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi... OMIM:144750
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Failure to thrive, Slender build, Slender long bones with narrow diaphyses, Dense met... ORPHA:50811
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Pedal edema ORPHA:75325
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Delayed ossification of carpal bones, Decreased body weight, Short ... OMIM:618392
Dermatoosteolysis, Kirghizian Type
Abnormal metaphysis morphology, Abnormal foot morphology, Tarsal synostosis, Abnormal diaphysis m... ORPHA:1657
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of... ORPHA:1486
Stillbirth OMIM:265880
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Hypoplastic left heart OMIM:236110
Classic Hodgkin Lymphoma
Weight loss, Splenomegaly, Osteolysis ORPHA:391
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Metaphyseal sclerosis, Osteoporotic t... OMIM:609052
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal tr... ORPHA:1952
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Cone/cone-rod dystrophy, Renal hypoplasia, Hydronephrosis,... OMIM:615996
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Tenosynovial Giant Cell Tumor
Localized osteoporosis, Abnormal shoulder morphology, Limitation of joint mobility, Abnormality o... ORPHA:66627
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Micrognathia, Osteolysis OMIM:176670
Proteus Syndrome
Calvarial hyperostosis, Mandibular hyperostosis, Hypertrophy of skin of soles, Facial hyperostosi... OMIM:176920
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:241530
Microphthalmia/Coloboma 12
Microphthalmia, Vesicoureteral reflux, Remnants of the hyaloid vascular system, Growth delay, Opt... OMIM:120200
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Scoliosis, Thoracic kyphosis, Decreased hip abduction, Irregular ... OMIM:609223
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals OMIM:277950
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Osteoarthritis of the elbow, Hip osteoarthritis, Knee osteoarthritis, Abnormal femora... ORPHA:2619
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Frank-Ter Haar Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Genu recurvatum, Joint stiffness,... ORPHA:137834
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Synovitis, Osteolysis of patellae, Osteolysis of talus, Osteolysis of scaph... ORPHA:50809
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukemia, Leukocytosis, Osteoporo... ORPHA:98850
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia, Coloboma, Renal hypoplasia, Intrauterine growth retardation OMIM:615665
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Bowing of the long bones, Generalized osteoporosis, Micrognathia, Joint hypermobi... OMIM:617952
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia, Vesicoureteral reflux, Hypoplasia of the bladder, Growth ... ORPHA:85284
Meckel Syndrome, Type 8
Occipital encephalocele, Enlarged kidney, Microphthalmia, Encephalocele, Anophthalmia, Polycystic... OMIM:613885
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Short sta... OMIM:611555
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Fused cervical vertebrae, Neutrophilia, Splenomegaly, Osteolysis, Failur... OMIM:612852
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Abnormal pelvic girdle bone morphology, Thickened cortex... OMIM:607634
Lessel-Kubisch Syndrome
Short stature, Renal hypoplasia, Hypertension, Renal insufficiency OMIM:618681
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal foot morphology, Abnormal diaphysis morphol... ORPHA:85184
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... ORPHA:83451
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Platyspondyly ORPHA:93304
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Premature epimetaphyseal fusion, Reduced bone mineral density, Symmetric polyarthriti... ORPHA:85435
Infantile Myofibromatosis
Abnormal metaphysis morphology, Bone cyst, Limitation of joint mobility, Osteolysis ORPHA:2591
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Stillbirth, Polyhydramnios, Death in childhood, Hepatomegaly, Renal tub... OMIM:614922
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Mild proteinuria, Glom... OMIM:614377
Brachyolmia Type 2
Platyspondyly OMIM:613678
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Bowing of the long bones, Osteomyelitis, Increased sus... OMIM:166260
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Stiff neck, Vertebral wedging, Joint stiffness, Plat... OMIM:616583
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi... OMIM:300009
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal long bone morphology, Abnormality of the vertebral column, Calvarial hyperostosis, Hyper... ORPHA:52430
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo... OMIM:271630
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi... OMIM:264700
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Abnormal form of the vertebral bodies, Abnormal pelvis bo... ORPHA:1426
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi... OMIM:277440
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Meier-Gorlin Syndrome 8
Intrauterine growth retardation, Unilateral renal hypoplasia, Bilateral cryptorchidism, Nephroptosis OMIM:617564
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Flat acetabular... OMIM:156530
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic... OMIM:620076
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Femoral bowing, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Alagille Syndrome 2
Cholestatic liver disease, Hematuria, Renal tubular acidosis, Hypertension, Cholestasis, Renal cy... OMIM:610205
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flared metaphysis, Short ribs, Decreased skull ossification, Decreased fibular diamet... OMIM:616897
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Genu valgum, Reduced bone mineral density, Truncal obesity, Broad femoral head, Sever... OMIM:620639
Papillorenal Syndrome
Microphthalmia, Hypertension, Edema, Stage 5 chronic kidney disease, Renal malrotation, Macular d... OMIM:120330
Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Craniosynostosis... ORPHA:356961
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Rheumatoid arthritis, Thromb... ORPHA:100026
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Unilateral renal agenesis, Chronic kidney disease, Short stature, Renal hypoplasia, P... OMIM:617661
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Restricted large joint movement, Abnormal vertebral morphology ORPHA:163665
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hepatomegaly, Hypertrophic cardiomyopathy, Renal hypoplasia, Oligohydramnios, Ket... OMIM:619053
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal metaphysis morphology, Osteopenia, Platyspondyly, Flat capital femoral epiphysis, Broad ... ORPHA:157965
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Cox... OMIM:609324
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Rhizomelia, Fibular bowing, Tibial bowing, Bowing of the long bones, Mic... OMIM:613848
Increased bone mineral density, Arthritis, Hyperostosis, Lower limb asymmetry, Ectopic ossificati... ORPHA:2485
Progressive Pseudorheumatoid Arthropathy Of Childhood
Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand joint mobility, ... ORPHA:1159
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involvin... ORPHA:371428
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Atelosteogenesis Type I
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Scoliosis,... ORPHA:1190
Felty Syndrome
Anemia, Arthritis, Abnormal lymphocyte morphology, Limitation of joint mobility, Synovitis, Throm... ORPHA:47612
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Avascular Necrosis Of Femoral Head, Primary, 2
Platyspondyly OMIM:617383
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Fibrous Dysplasia Of Bone
Rickets, Abnormal femur morphology, Abnormal tibia morphology, Pathologic fracture, Abnormal bone... ORPHA:249
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Metaphyseal striations, Failure to thrive, Slender build, Slender long b... OMIM:608154
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os... OMIM:156510
Hypercholanemia, Familial 1
Rickets, Failure to thrive OMIM:607748
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Right aortic arch with mirror image branc... OMIM:601186
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi... OMIM:147891
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Platyspondyly, Wide distal femoral metaphysis, Arthralgia of the hip, Hip osteoa... ORPHA:99642
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Short stature, Renal hypoplasia, Tetralogy of ... OMIM:612946
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Platyspondyly, Short met... ORPHA:93351
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Abnormal foot morphology, Sclerotic vertebral endplates, Platyspondyly, Enlarged ... OMIM:208230
Aicardi-Goutieres Syndrome 9
Elevated circulating hepatic transaminase concentration, Hypertension, Ascites, Pericarditis, Low... OMIM:619487
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Verheij Syndrome
Optic nerve hypoplasia, Coloboma, Truncus arteriosus, Renal cyst, Renal agenesis, Renal hypoplasi... OMIM:615583
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Gaucher Disease Type 1
Osteopenia, Decreased HDL cholesterol concentration, Anemia, Increased circulating antibody level... ORPHA:77259
Palmoplantar keratoderma, Abnormal cortical bone morphology, Anemia, Arthritis, Limitation of joi... ORPHA:2796
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i... OMIM:112350
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... ORPHA:166119
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Femoral-Facial Syndrome
Abnormal fibula morphology, Scoliosis, Vertebral segmentation defect, Abnormal pelvic girdle bone... ORPHA:1988
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Epiphyseal dysplasia, Arachnodactyly, Long hallux, Broad hallux, Fifth finger distal ... OMIM:615923
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Hepatomegaly, Ectopic kidney, Optic disc pallor, Death in infancy, Cryptorchidism... OMIM:613730
Osteoporosis OMIM:166710
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Unilateral renal agenesis, Patent foramen ovale, Increased nuchal translucency, C... OMIM:618494
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Intermediate Osteopetrosis
Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplen... ORPHA:210110
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Hydranencephaly, Renal cyst, Renal hypoplasia, Neonatal death, Ureteral agenesis, Ren... OMIM:236500
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Abnormality of the lower limb OMIM:193100
Even-Plus Syndrome
Recurrent urinary tract infections, Patent foramen ovale, Vesicoureteral reflux, Renal hypoplasia... OMIM:616854
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Anemia, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis, Short long bone, Upp... OMIM:618728
Hypophosphatasia, Adult
Rickets, Abnormal foot morphology, Pathologic fracture, Osteomalacia, Recurrent fractures, Increa... OMIM:146300
Monosomy 5P
Finger syndactyly, Abnormality of bone mineral density, Microretrognathia, Joint hypermobility, R... ORPHA:281
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Webbed neck, Joint contracture of the 5th finger, Patent foramen ovale, Joint con... OMIM:618914
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Nephronophthisis 19
Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Hyperecho... OMIM:616217
Hydrops Fetalis
Abnormality of the kidney, Polyhydramnios, Capillary leak, Miscarriage, Lymphedema, Pleural effus... ORPHA:1041
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Subperiosteal bone resorption, Delayed epiphyseal ossification, Enlargement of the ankle... ORPHA:289157
Coxoauricular Syndrome
Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ... ORPHA:1508
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Beaking of vertebral bodies, Mesomelic arm shortening, Cone-shaped ... OMIM:609616
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Lumbar kyphosis in infanc... OMIM:100800
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Decreased fibular diameter, Arachnodactyly, Long finger... OMIM:619489
Isolated Atp Synthase Deficiency
Optic atrophy, 3-Methylglutaconic aciduria, Hepatomegaly, Hypertrophic cardiomyopathy, Short stat... ORPHA:254913
Cat-Eye Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Short stature, Hydronephrosis, Chorioretinal coloboma, ... ORPHA:195
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn... ORPHA:2741
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Congenital diaphragmatic hernia, Abnormal nephron morphology, Decreased glomerular filtration rat... ORPHA:2260
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microphthalmia, Retinal dystrophy, Remnants of the hyaloid vascular system,... ORPHA:231736
Atelosteogenesis Type Ii
Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap... ORPHA:56304
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar keratoderma, Ankylosis, Palmoplantar hyperhidrosis, Osteolysis ORPHA:659
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Morquio Syndrome C
Platyspondyly OMIM:252300
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata... OMIM:259600
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia, Abnormal mesent... ORPHA:2256
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, Anasa... OMIM:261740
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Renal Coloboma Syndrome
Optic nerve dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Retinal coloboma, Ren... ORPHA:1475
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Joint stiffness, Failure to thrive, Hypoplastic vertebral bodies, Coxa va... OMIM:230600
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hand metaphysis morphology, Joint stiffness, Biconcave vertebral b... ORPHA:166011
Osteogenesis Imperfecta, Type V
Osteopenia, Platyspondyly, Vertebral wedging, Hyperextensibility of the finger joints, Hyperexten... OMIM:610967
Tyrosinemia Type 1
Splenomegaly, Rickets of the lower limbs ORPHA:882
Senior-Boichis Syndrome
Tubular luminal dilatation, Elevated circulating hepatic transaminase concentration, Hypertension... ORPHA:84081
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Death in... OMIM:612158
Cach Syndrome
Optic atrophy, Pancreatitis, Optic neuritis, Growth delay, Renal hypoplasia, Hepatosplenomegaly, ... ORPHA:135
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Progressive clavicular acroosteolysis, Osteolytic defects of the distal p... OMIM:614008
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial e... OMIM:614702
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Tricuspid regurgitation, Renal hypoplasia, Splenomegaly,... OMIM:616589
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Bardet-Biedl Syndrome 3
Renal hypoplasia, Rod-cone dystrophy, Pigmentary retinopathy, Tricuspid regurgitation OMIM:600151
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Microphthalmia, Abnormal renal morphology,... OMIM:609053
Desbuquois Dysplasia 1
Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala... OMIM:251450
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Hypertension, Beta 2-microglobulinur... ORPHA:97362
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Short greater sciatic notch, Wide anterior fontanel, Femoral bowi... ORPHA:1860
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Aplasia/Hypoplasia of the clavicles, Micr... ORPHA:90154
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Death in childhood, Hepatomegaly, Camptodactyly, Renal hypoplasia, F... OMIM:604273
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Glomerulopathy, Hepatomegaly, Hematuria, Abnormal heart valve morphology... ORPHA:36412
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped metaphyses of hand bones, ... OMIM:307800
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Limitation of joint mobility, Aplasia/Hyp... ORPHA:90153
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Renal cyst, Bile duct proliferation, Int... OMIM:611134
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Short long bone, Hyperlordosis, Metaphyseal irregularity, Abno... ORPHA:93352
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly, Osteoarthritis, Hip osteoarthritis OMIM:271600
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion, Cryptorchidism, Micropenis OMIM:614684
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the panc... ORPHA:2470
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Hepatomegaly, Rhizomelia, Short stature, Renal hypoplasia, ... OMIM:614376
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Equinovarus deformity, Talipes calcaneovarus, Fractures of the long bones, Wide humer... ORPHA:319195
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Flared metaphysis, Metaphyseal cupping, Bowing of the legs, Genu varum OMIM:619073
Diffuse Cutaneous Systemic Sclerosis
Arthritis, Narrow foramen obturatorium, Flexion contracture, Osteolysis ORPHA:220393
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Platyspondyly, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar sco... OMIM:313420
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia... OMIM:108720
Meckel Syndrome, Type 7
Situs inversus totalis, Atrial septal defect, Multiple glomerular cysts, Cholestasis, Biliary cir... OMIM:267010
Mucolipidosis Type Iii Alpha/Beta
Generalized osteoporosis, Joint stiffness, Flexion contracture, Osteolysis ORPHA:423461
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Kyphoscoliosis, Carpal bone hypoplasia, Abnormal foot morphology, C... OMIM:184252
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Short ribs, Splenomegaly, Metaphyseal irregularity, Joint hypermobi... OMIM:602557
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Bruck Syndrome 1
Ankle flexion contracture, Platyspondyly, Vertebral wedging, Scoliosis, Elbow flexion contracture... OMIM:259450
Orofaciodigital Syndrome Xvii
Short stature, Renal hypoplasia, Micropenis, Tetralogy of Fallot OMIM:617926
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Platyspondyly, Joint hypermobility, Dislocated ra... OMIM:618395
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level, Coloboma, Growt... OMIM:274270
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Increased bone mineral d... ORPHA:90650
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Bilateral renal agenesis, Short stature, Renal hypoplasia... OMIM:617914
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Slender metacarpals, Metaphyseal irregularity, Joint hypermobility, Gen... ORPHA:93360
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Femoral bowing, Recurrent fractures, Osteoporosis OMIM:126550
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal femur morphology, Anemia, Abnormal form of the vertebral bo... ORPHA:464329
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati... OMIM:184260
Distal Duplication 6P
Short stature, Renal hypoplasia, Aplasia/Hypoplasia affecting the eye, Hydronephrosis, Intrauteri... ORPHA:1745
Bruck Syndrome 2
Osteopenia, Elbow flexion contracture, Femoral bowing, Flexion contracture, Knee flexion contract... OMIM:609220
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Spina bifida occulta, Osteoarthritis, Cervical spondylosis OMIM:184300
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Pulmonary artery stenosis, Renal hypoplasia, Short stature... ORPHA:75389
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Fractured rib, Femoral bowing, Short long bone, Metaphy... OMIM:618188
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Farber Lipogranulomatosis
Lipogranulomatosis, Osteolytic defects of the phalanges of the hand, Limitation of knee mobility,... OMIM:228000
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Urinary incontinence, Polyhydramnios, Limb hypertonia, Aortic aneurysm, Multiple muscular ventric... OMIM:620070
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Thoracolumbar kyphosis, Epiphyseal stippling of... ORPHA:56305
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, 3-Methylglutaconic aciduria, Elevated urine acetoacetic acid level, Alpha-aminoadi... OMIM:620089
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal agenesis, Renal hypoplasia, Umbilical hernia, Patent ductus arteriosus, Crypto... ORPHA:171839
Gombo Syndrome
Delayed puberty, Microphthalmia, Abnormal heart morphology OMIM:233270
Ankylosis, Abnormal foot morphology, Abnormality of the lower limb, Osteolysis ORPHA:182
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
Limited elbow extension, Flared metaphysis, Short long bone, Aplasia/hypoplasia of the extremitie... OMIM:146000
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Split-Hand/Foot Malformation 3
Renal hypoplasia, Camptodactyly OMIM:246560
Microphthalmia, Syndromic 2
Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Mitral valve prolapse, Umbilical hernia... OMIM:300166
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Buphthalmos, Hemorrhage of the eye, Remnants of the hyaloid vascular system, Reti... ORPHA:91495
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Sandal gap, Hypocalcemia, Short ribs, ... OMIM:607143
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Lacticaciduria, Patent foramen ovale, Tricus... OMIM:619167
Microcephaly-Micromelia Syndrome
Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Missing ribs, Micrognathi... OMIM:251230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Muscular dystrophy, Microphthalmia, Death in childhood, Encephalocele, Retinal dysplasia, Retinal... OMIM:614643
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Kyphosis, Aplasia/hypoplasia of the humerus, Joint hypermobility,... ORPHA:198
Burn-Mckeown Syndrome
Hypomimic face, Unilateral renal agenesis, Short stature, Renal hypoplasia, Atrial septal defect,... OMIM:608572
Spondyloepiphyseal Dysplasia, Maroteaux Type
Kyphoscoliosis, Genu valgum, Generalized osteoporosis, Short palm, Atlantoaxial instability, Shor... OMIM:184095
Hall-Riggs Syndrome
Scoliosis, Osteoporosis, Kyphosis, Failure to thrive, Metaphyseal dysplasia, Brachydactyly, Irreg... OMIM:234250
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Metaphyseal wide... ORPHA:440354
Pelviscapular Dysplasia
Elbow flexion contracture, Hypoplastic ilia, Congenital hip dislocation, Humeroradial synostosis,... ORPHA:93333
Vacterl Association With Hydrocephalus
Stillbirth, Abnormal heart morphology, Renal hypoplasia OMIM:276950
Congenital Disorder Of Glycosylation, Type Il
Hydrops fetalis, Hepatomegaly, Polycystic kidney dysplasia, Ascites, Pericardial effusion, Spleno... OMIM:608776
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Decreased body weight, Abnormal cortical bone morphology OMIM:614886
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Failure to thrive OMIM:602722
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi... ORPHA:93346
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Chylopericardium, Pleural effusion, Asci... ORPHA:2414
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis, Osteoporosis ORPHA:2786
Papillon-Lefèvre Syndrome
Palmoplantar keratoderma, Liver abscess, Arachnodactyly, Palmoplantar hyperkeratosis, Recurrent c... ORPHA:678
Emanuel Syndrome
Congenital diaphragmatic hernia, Unilateral renal agenesis, Torticollis, Recurrent urinary tract ... OMIM:609029
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Scoliosis, Osteoporosis, Coxa vara, Coxa valga, Joint hypermobility, Pes planus, B... OMIM:619131
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Birk-Landau-Perez Syndrome
Optic atrophy, Stage 3 chronic kidney disease, Limb hypertonia, Facial hypotonia, Hypertension, G... OMIM:617595
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Stüve-Wiedemann Syndrome
Osteopenia, Abnormal metaphysis morphology, Genu valgum, Abnormal cortical bone morphology, Elbow... ORPHA:3206
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Coloboma, Vesicoureteral reflux, Pseudohypoparathyroidism, Renal hypoplasia, Cryptorchidism ORPHA:464288
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Congenital Disorder Of Glycosylation, Type Ia
Death in childhood, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Proxim... OMIM:212065
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Short metatarsal, Upper limb undergrowt... OMIM:271650
Sapho Syndrome
Hyperostosis, Arthritis, Abnormal sacroiliac joint morphology, Synovitis, Enthesitis, Osteolysis,... ORPHA:793
Aplasia Cutis Congenita
Finger syndactyly, Abnormality of bone mineral density, Toe syndactyly ORPHA:1114
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Lower eyelid edema, Arrhythmia, Abnormal cere... ORPHA:363705
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Kyphoscoliosis, Platyspondyly, Flat capital femoral epiphysis, Flared metaphysis, Dis... OMIM:612350
Atelis Syndrome 2
Microphthalmia, Remnants of the hyaloid vascular system, Supravalvar pulmonary stenosis, Pulmonic... OMIM:620185
Marden-Walker Syndrome
Postnatal growth retardation, Microphthalmia, Dextrocardia, Hypospadias, Camptodactyly, Congenita... OMIM:248700
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Reticulocytosis, Failure to thrive, Hepatosplenomegaly, Decreased mean corpuscular volum... OMIM:611590
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Vascular dilatation, Ectopic kidney, Unilateral renal agenesis, ... OMIM:617641
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Short stature, Renal hypoplasia, Growth delay, Intrauterine growth retardation, ... OMIM:616817
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Tooth abscess, Osteomalacia, Bowing of the legs ORPHA:89937
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Duane-Radial Ray Syndrome
Microphthalmia, Pectoralis hypoplasia, Vascular dilatation, Optic disc hypoplasia, Spina bifida o... OMIM:607323
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bo... ORPHA:93307
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Genu valgum, Irregular epiphyses, Hypoplastic acetabulae, Scoliosis,... OMIM:607326
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Lumbar platyspondyly, Increased intervertebral space, Short long bon... OMIM:618961
Bruck Syndrome
Scoliosis, Bowing of the long bones, Osteoporosis, Kyphosis, Joint stiffness, Platyspondyly, Arth... ORPHA:2771
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Renal cyst, Bile duct proliferation, Int... OMIM:603194
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Dent Disease
Rickets, Delayed epiphyseal ossification, Enlargement of the ankles, Abnormality of the lower lim... ORPHA:1652
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Polyhydramnios, Microphthalmia, Pelvic kid... OMIM:603467
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Tibial bowing, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-shaped femur... ORPHA:1427
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Osteoarthritis ORPHA:93283
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Me... ORPHA:85198
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu... OMIM:602111
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Facial hypotonia, Micropenis, Spina bifida OMIM:620439
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Wide anterior fontanel, Oligodactyly, ... OMIM:201170
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Pseudotrisomy 13 Syndrome
Cyclopia, Tricuspid atresia, Microphthalmia, Dextrocardia, Encephalocele, Cryptorchidism, Renal a... OMIM:264480
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Nonimmune hydrops fetalis, Umbilical hernia, Camptodactyly, Pulmonary lymphangiec... OMIM:235510
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Abnormal cortical bone morphology, Clinodactyly of the 5th finge... ORPHA:2769
Ghosal Hematodiaphyseal Dysplasia
Diaphyseal dysplasia, Increased bone mineral density, Refractory anemia, Myelofibrosis, Thrombocy... OMIM:231095
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Kyphoscoliosis, Arthritis, Hypoplasia of the odontoid process, Irregular vertebral endplates, Pla... OMIM:184100
Osteogenesis Imperfecta, Type Ix
Scoliosis, Kyphosis, Decreased calvarial ossification, Multiple prenatal fractures, Short lower l... OMIM:259440
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Femoral bowing, T... ORPHA:93356
Erdheim-Chester Disease
Abnormal metaphysis morphology, Anemia, Increased bone mineral density, Weight loss, Osteolysis, ... ORPHA:35687
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Anterior bowing of long bo... OMIM:255800
Senior-Loken Syndrome
Abnormality of bone mineral density, Cone-shaped epiphysis ORPHA:3156
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly OMIM:608361
Pediatric Systemic Lupus Erythematosus
Hematuria, Abnormality of the urinary system, Myositis, Pleural effusion, Ascites, Nephrotic synd... ORPHA:93552
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Polyhydramnios, Coloboma, Pleural effusion, Ascites, Death in infancy, Pericardial effu... OMIM:618183
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility ORPHA:168555
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Platyspondyly, Abnormal femoral neck/head morphology, Hemiatrophy of ... ORPHA:163649
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Polymorphic ventricular tachycardia, Prolonged QT interval, ... ORPHA:37553
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia, Ectopic kidney, Pulmonic stenosis OMIM:212780
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Short long bone, Hyperlordosis,... ORPHA:457395
Meckel Syndrome 12
Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Intrauterine growth retardation,... OMIM:616258
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ... ORPHA:93315
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Knee osteoarthritis, Bone cyst, Osteoporosis, Coxa vara, Camptodacty... ORPHA:2848
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Hematuria, Chorioretinal coloboma, Iris coloboma OMIM:120433
Thalidomide Embryopathy
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... ORPHA:3312
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Cone-shaped epiphysis, Osteoporosis ORPHA:71267
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Renal cyst, Bile duct proliferation OMIM:611561
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Abnormal mitochondria in mu... OMIM:252011
H Syndrome
Hallux valgus, Camptodactyly, Hepatosplenomegaly, Microcytic anemia, Pes planus, Histiocytosis, R... ORPHA:168569
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Sacral dimple, Abnormal form of the... ORPHA:2064
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Growth delay, Renal hypoplasia, Intrauteri... OMIM:617784
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Failure to thrive, Rickets, Splenomegaly OMIM:211600
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension, Growth delay, Renal hypoplasia, Secundum atrial septal defect, Umbilical hernia, Ab... OMIM:619758
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion, Abnormal peritoneum morphology ORPHA:48686
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericarditis, Pericardial effusion, Hematuria ORPHA:231111
Mixed Connective Tissue Disease
Arthritis, Joint stiffness, Leukopenia, Splenomegaly, Hemolytic anemia, Osteolysis ORPHA:809
Joubert Syndrome 6
Nephronophthisis, Hepatic fibrosis, Bile duct proliferation, Retinal degeneration, Chorioretinal ... OMIM:610688
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calc... OMIM:300863
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Emanuel Syndrome
Congenital diaphragmatic hernia, Unilateral renal agenesis, Multiple joint contractures, Truncus ... ORPHA:96170
Mungan Syndrome
Perimembranous ventricular septal defect, Vesicoureteral reflux, Tricuspid regurgitation, Pulmoni... OMIM:611376
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Polyhydramnios, Abnormal biliary tract morphology, Multicys... ORPHA:3032
Microphthalmia With Limb Anomalies
Sandal gap, Abnormal form of the vertebral bodies, Short long bone, Tibial bowing, Broad thumb, J... ORPHA:1106
Dworschak-Punetha Neurodevelopmental Syndrome
Vesicoureteral reflux, Dilation of Virchow-Robin spaces, Optic disc hypoplasia, Unilateral renal ... OMIM:619955
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Buphthalmos, Retinal nonattachment, Remnants of the hyaloid vascular system, Reti... OMIM:221900
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Rhizomelia, Proximal placement of thumb, Platyspondyly, Bowing of... ORPHA:93267
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Lumbar scoliosis, Platyspondyly, Irregular vertebral endplates OMIM:612847
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Vesicoureteral reflux, Aortic valve stenosis, Renal hypoplasia, Short stature, Mitral stenosis, S... OMIM:617660
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteopenia, Osteoporosis, Coxa vara, Joint stiffness, Micrognathia, Hip dysplasia, Osteo... ORPHA:1901
Hajdu-Cheney Syndrome
Partial absence of toe, Decreased skull ossification, Kyphosis, Biconcave vertebral bodies, Splen... ORPHA:955
Kniest Dysplasia
Rhizomelia, Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossification, Tracheomalacia... OMIM:156550
Osteogenesis Imperfecta, Type Viii
Osteopenia, Platyspondyly, Vertebral compression fracture, Slender long bone, Femoral retroversio... OMIM:610915
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Hypospadias, Coloboma, Short stature ORPHA:141333
Osteopetrosis, Autosomal Recessive 9
Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Pathologic fracture OMIM:620366
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Cholelithiasis, Bradycardia, Hypertrophic cardiomyopathy, Pericardi... OMIM:618775
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Bowing... ORPHA:157215
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Cockayne Syndrome Type 3
Microphthalmia, Elevated circulating hepatic transaminase concentration, Retinal atrophy, Cardiom... ORPHA:90324
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Hypoplasia of penis, Short stature, Renal hypoplasia, Telangiectasia of the skin, Umbilical herni... ORPHA:85321
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Meckel Syndrome, Type 3
Occipital encephalocele, Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kid... OMIM:607361
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Renal transitional cell carcinoma, Coloboma, Lymphedema, Pheochromocytoma, Spin... ORPHA:2874
Hardikar Syndrome
Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, I... OMIM:301068
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Kyphoscoliosis, Delayed ossification of carpal bones, Biconcave vertebral bodies, Mesomelia, Meta... OMIM:271510
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel... OMIM:166600
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Short femur, Amelia, Foot oligodactyly OMIM:601357
Oculopalatocerebral Syndrome
Short stature, Microphthalmia, Remnants of the hyaloid vascular system OMIM:257910
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... OMIM:271700
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, S... OMIM:616723
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral me... OMIM:614856
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Carpal bone hypoplasia, Genu valgum, Ivory epiphyses of the toes, Hip subluxation, Small epiphyse... OMIM:226980
Geroderma Osteodysplastica
Beaking of vertebral bodies, Abnormal bone ossification, Talipes, Platyspondyly, Vertebral compre... ORPHA:2078
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Anteriorly displaced urethral meatus, Renal hypoplasia, Hors... OMIM:266810
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Platyspondyly, Vertebral compression fracture, Angulated humerus, Recurre... OMIM:616229
Cerebrooculofacioskeletal Syndrome 3
Edema, Microphthalmia, Arthrogryposis multiplex congenita, Intrauterine growth retardation OMIM:616570
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy OMIM:601389
Pseudodiastrophic Dysplasia
Platyspondyly, Scoliosis ORPHA:85174
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Coloboma, Unilateral microphthalmos, Short stature, Bicuspid aortic val... OMIM:619318
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Hip... ORPHA:464321
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... ORPHA:89936
Cantu Syndrome
Bicuspid aortic valve, Lymphedema, Umbilical hernia, Pericardial effusion, Congenital hypertrophy... OMIM:239850
Alagille Syndrome 1
Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice... OMIM:118450
Q Fever
Myocarditis, Abnormal vascular morphology, Hepatomegaly, Hematuria, Elevated circulating hepatic ... ORPHA:781
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Hypospadias, Polycystic kidney dysplasia, Ascites, Renal cyst, Short stature, Re... OMIM:614091
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Short stature, Intra... ORPHA:2714
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Intrauterine growth retardation, Right atrial isomerism,... OMIM:270100
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Cardiomyopathy, Pulmonary arterial hypertension, Neonatal... OMIM:619003
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Platyspondyly, Short metatarsal, Hyperlordosis, Flat acetab... OMIM:615222
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchhiker thumb, Scoliosis, Increased in... OMIM:256050
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Congestive heart failure, Pulmonary edema, Hyperprostaglandinuria, Hypercalciuria, Abnormal renal... ORPHA:73224
Faciocardiomelic Syndrome
Osteopenia, Polydactyly, Large for gestational age, Slender long bone, Hypoplastic pelvis, Microg... OMIM:612731
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Infantile Systemic Hyalinosis
Osteopenia, Osteoporosis, Micromelia, Joint stiffness, Camptodactyly of finger, Short palm, Failu... ORPHA:2176
Abnormal metaphysis morphology, Craniofacial hyperostosis, Increased bone mineral density, Coarse... ORPHA:1782
Porphyria, Congenital Erythropoietic
Osteopenia, Thrombocytopenia, Splenomegaly, Pathologic fracture, Hemolytic anemia, Reduced erythr... OMIM:263700
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... OMIM:620662
12Q14 Microdeletion Syndrome
Ectopic kidney, Short stature, Renal hypoplasia, Abnormality of the spleen, Skeletal muscle atrop... ORPHA:94063
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Polyhydramnios, Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abn... ORPHA:2547
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam... ORPHA:88630
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Failure to thrive, Osteoporosis OMIM:560000
Chime Syndrome
Acute leukemia, Aplasia/Hypoplasia of the phalanges of the toes, Short foot, Short palm, Aplasia/... ORPHA:3474
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Hematuria, Retinal detachment, Chorioretinal coloboma, Iris coloboma ORPHA:1473
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs due to multiple fractures, Recurre... OMIM:615220
Anauxetic Dysplasia 1
Limited elbow extension, Short finger, Rhizomelia, Platyspondyly, Small epiphyses, Flared metaphy... OMIM:607095
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Abnormal optic disc morphology, Bicuspid aortic valve, Pe... ORPHA:508498
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Patent foramen ovale, Vesicoureteral reflux, Bilateral superior vena cava w... OMIM:618460
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Aortic root aneurysm, Vesicoureteral reflux, Ventricular hypertrophy, ... OMIM:620654
Gaucher Disease Type 3
Anemia, Pancytopenia, Increased bone mineral density, Thrombocytopenia, Splenomegaly, Osteolysis,... ORPHA:77261
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Gastrointestinal hemorrhage, Hypertension, Cholestasis, Ascites, Biliary hyperpl... ORPHA:731
Alpha-Mannosidosis, Infantile Form
Talipes valgus, Cranial hyperostosis, Osteopenia, Genu valgum, Platyspondyly, Pancytopenia, Bilat... ORPHA:309282