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
Craniofacial hyperostosis, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Abn... ORPHA:1802
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Eiken Syndrome
Epiphyseal dysplasia, Abnormal fingertip morphology, Short phalanx of finger, Abnormal trabecular... ORPHA:79106
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Structural foot deformity, Joint stiffness, Abnormality of the fifth meta... ORPHA:564003
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Diaphyseal thickening, Cranial hyp... ORPHA:3416
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Rhizomelia, Failure to thrive, Short femur, Epiphyseal stippling OMIM:600121
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Abnormal cortic... ORPHA:3152
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Del... OMIM:600785
Medial Condensing Osteitis Of The Clavicle
Patchy reduction of bone mineral density, Limited shoulder movement ORPHA:57196
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Abnormality of the k... ORPHA:970
Gnathodiaphyseal Dysplasia
Osteopenia, Thickened cortex of long bones, Recurrent fractures, Mandibular osteomyelitis, Bowing... ORPHA:53697
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Familial Expansile Osteolysis
Thin bony cortex, Osteolysis, Pathologic fracture, Bowing of the long bones OMIM:174810
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Hyaline Fibromatosis Syndrome
Osteolysis, Osteoporosis, Progressive flexion contractures, Osteopenia, Failure to thrive, Flexio... OMIM:228600
Angioosteohypotrophic Syndrome
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abnormal trabecular bone mo... ORPHA:75508
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Coarse metaph... ORPHA:2779
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Ab... ORPHA:3344
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis OMIM:608805
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Pathologic fracture, Upper limb undergrowth, Limitation of joi... ORPHA:166277
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of limb bone morphology, Increased bone mineral density, Abnormal cortical bone morph... ORPHA:2204
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis ORPHA:2776
Mu-Heavy Chain Disease
Abnormal B cell count, Osteolysis, Anemia, Osteoporosis, Splenomegaly, Weight loss ORPHA:100024
Abnormal tibial metaphysis morphology, Osteolysis, Abnormal metaphysis morphology, Pathologic fra... ORPHA:668
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad long bones, Broad femoral head, Sclerosis of middle finger phalanx, Broad radial metaphysis... ORPHA:85188
Deviation of finger, Abnormal cortical bone morphology, Joint stiffness, Abnormality of the knee,... ORPHA:1525
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Osteolysis, Joint stiffness, Abnormal diaphysis morphology ORPHA:2028
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Limb undergrowth, Coronal cleft vertebrae, Short tibia, Short 4th metacarpal, Short 3rd metacarpa... OMIM:118651
Caffey Disease
Calvarial hyperostosis, Bowing of the legs, Cortical irregularity, Joint hypermobility, Periostea... OMIM:114000
Pyle Disease
Absent paranasal sinuses, Limited elbow extension, Reduced bone mineral density, Hypoplastic fron... OMIM:265900
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormality of bone mineral density, Osteoarthritis, Abnormal epiphysis morphology... ORPHA:2114
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Rosaï-Dorfman Disease
Osteolysis, Anemia ORPHA:158014
Gorham-Stout Disease
Patchy reduction of bone mineral density, Osteolysis, Pathologic fracture, Osteolysis involving b... ORPHA:73
Fibular Hemimelia
Oligodactyly, Short tibia, Increased laxity of ankles, Toe syndactyly, Short toe, Fibular aplasia... ORPHA:93323
Spondylometaphyseal Dysplasia, Pagnamenta Type
Pes planus, Rhizomelia, Short 4th metacarpal, Broad thumb, Femoral bowing, Short 5th metacarpal, ... OMIM:619638
Metatropic Dysplasia
Camptodactyly of finger, Abnormal cortical bone morphology, Abnormal metaphysis morphology, Joint... ORPHA:2635
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Periosteal thickening of long... ORPHA:1310
Death in childhood, Bone-marrow foam cells, Renal insufficiency, Nephropathy, Nephrotic syndrome,... OMIM:256150
Metaphyseal Chondrodysplasia, Spahr Type
Reduced bone mineral density, Metaphyseal chondrodysplasia, Short lower limbs, Abnormal metaphysi... ORPHA:2501
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short neck, Flat acetabular roof, Sclerotic foci of metaphyses of the elbow, Short ili... OMIM:271530
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Osteolysis, Metacarpal osteolysis, Cachexia, Carpal osteolysis, Slender ... ORPHA:2774
Paget Disease Of Bone 3
Patchy osteosclerosis, Osteolysis, Fractures of the long bones OMIM:167250
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Hip dysplasia, Rhizomelia, Wide distal femoral metaphysis, Short femur, Short femo... OMIM:619598
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Multiple prenatal fractures, Slender long bone, Recurrent fractures... OMIM:619795
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Genu varum, Delayed ossification of carpal bones, Irregular acetabu... OMIM:617974
Osteoarthritis With Mild Chondrodysplasia
Knee osteoarthritis, Joint stiffness, Irregular vertebral endplates, Schmorl's node, Platyspondyl... OMIM:604864
Ollier Disease
Osteolysis, Abnormal metaphysis morphology, Joint stiffness, Anemia, Micromelia ORPHA:296
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Dense metaphyseal bands, Failure to thrive, Clavicular sclerosis,... OMIM:615198
Osteopenia And Sparse Hair
Joint laxity, Osteopenia OMIM:259690
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Bulging epiphyses, Delayed epiphyseal ossification, Femoral bowing, Sparse bone trabecul... OMIM:600081
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Delayed ossification of carpal bones, Short metacarpal, Broad femoral neck,... OMIM:607078
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis OMIM:239100
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures, ... OMIM:166740
Ramon Syndrome
Osteolysis, Failure to thrive ORPHA:3019
Tenosynovial Giant Cell Tumor
Osteolysis, Joint stiffness, Localized osteoporosis, Abnormality of the knee, Abnormal hip joint ... ORPHA:66627
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Li... ORPHA:93405
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Flat acetabular roof, Advanced ossification of carpal bones, Vertebral wedging, Monke... OMIM:617719
Scoliosis, Generalized joint laxity, Wind-swept deformity of the knees, Increased laxity of ankle... ORPHA:750
Grant Syndrome
Abnormal cortical bone morphology, Bowing of the long bones, Abnormality of the glenoid fossa, De... ORPHA:2097
Hypocalcemic Vitamin D-Resistant Rickets
Osteolysis, Hypophosphatemia, Abnormal metaphysis morphology, Genu varum, Scoliosis, Abnormal hip... ORPHA:93160
Paget Disease Of Bone 2, Early-Onset
Osteolysis, Osteosclerosis of the ulna, Sandwich appearance of vertebral bodies, Vertebral compre... OMIM:602080
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Osteolysis, Scoliosis, Abnormal metaphysis morphology, Anemia, Hyper... ORPHA:324964
Keratoderma Hereditarium Mutilans
Honeycomb palmoplantar hyperkeratosis, Osteolysis ORPHA:494
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Ck Syndrome
Slender build, Abnormal cortical bone morphology, Abnormal digit morphology, Micrognathia, Joint ... OMIM:300831
Metaphyseal Chondrodysplasia, Schmid Type
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... ORPHA:174
Bardet-Biedl Syndrome 19
Hydronephrosis, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Renal in... OMIM:615996
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic rickets, Delayed epiphyseal ossificati... OMIM:300554
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Spinal rigidity, Small epiphyses, Cervical instability, Laryngotracheomalacia, Short n... ORPHA:94068
Pierson Syndrome
Death in childhood, Rieger anomaly, Proteinuria, Retinal vascular tortuosity, Edema, Hypertension... OMIM:609049
Increased bone mineral density OMIM:166450
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... OMIM:616002
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Generalized joint laxity, Joint stiffness, Avascular necrosis of the capita... OMIM:132400
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Small for gestational age, Slender build, Dense metaphyseal bands, Osteopenia, Failure to thrive,... ORPHA:50811
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Scoliosis, Short tibia, Small finger, Micromelia, Flared iliac wi... OMIM:607778
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Pedal edema ORPHA:75325
Dermatoosteolysis, Kirghizian Type
Osteolysis, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Osteoarthritis, Abnorm... ORPHA:1657
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Small for gestational age, Delayed ossification of carpal bones, Sh... OMIM:618392
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Micrognathia,... ORPHA:1486
Stillbirth OMIM:265880
Holzgreve Syndrome
Hypoplastic left heart, Renal agenesis, Renal hypoplasia OMIM:236110
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Genu varum, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bone ossificatio... ORPHA:1952
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro... OMIM:200700
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Metaphyseal sclerosis, Ovoid vertebral bodies, Metaphyseal widening... OMIM:609052
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osebold-Remondini Syndrome
Type A brachydactyly, Decreased finger mobility, Abnormality of the vertebral column, Hypoplasia ... OMIM:112910
Osteopetrosis, Autosomal Recessive 6
Erlenmeyer flask deformity of the femurs, Osteopetrosis, Dense metaphyseal bands, Cortical sclero... OMIM:611497
Proteus Syndrome
Calvarial hyperostosis, Hypertrophy of skin of soles, Facial hyperostosis, Mandibular hyperostosi... OMIM:176920
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Lethal Faciocardiomelic Dysplasia
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Microretrognathia, Short 5t... ORPHA:1972
Classic Hodgkin Lymphoma
Osteolysis, Splenomegaly, Weight loss ORPHA:391
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Bulging epiphyses, Hypophosphatemic rickets, Delayed epiphyseal ossification, Femoral bo... OMIM:241530
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Morning glory anomaly, Microphthalmia, Chorioretinal coloboma, Growth delay,... OMIM:120200
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Irregular vertebral endplates, Platyspondyly,... OMIM:609223
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis, Thickened cortex of long bon... OMIM:607634
Leri-Weill Dyschondrosteosis
Abnormality of the humerus, Abnormal metatarsal morphology, Scoliosis, Abnormal carpal morphology... OMIM:127300
Winchester Syndrome
Generalized osteoporosis, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis OMIM:277950
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis, Micrognathia OMIM:176670
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of talus, Synov... OMIM:609655
Bresek Syndrome
Decreased testicular size, Cryptorchidism, Iris coloboma, Hypoplasia of the bladder, Intrauterine... ORPHA:85284
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Femoral bowing, Joint laxity, Recurrent fractures, Micrognathia, Thin b... OMIM:617952
Talo-Patello-Scaphoid Osteolysis
Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of talus, Synov... ORPHA:50809
Frank-Ter Haar Syndrome
Camptodactyly of finger, Osteolysis, Joint stiffness, Genu recurvatum, Abnormal metacarpal morpho... ORPHA:137834
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... OMIM:611555
Meckel Syndrome, Type 8
Encephalocele, Polycystic kidney dysplasia, Enlarged kidney, Occipital encephalocele, Microphthal... OMIM:613885
Joubert Syndrome 22
Intrauterine growth retardation, Microphthalmia, Retinal dysplasia, Renal hypoplasia, Coloboma OMIM:615665
Lessel-Kubisch Syndrome
Renal insufficiency, Hypertension, Short stature, Renal hypoplasia OMIM:618681
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Osteolysis, Leukocytosis, Pathologic fracture, Anemia, Leukemia, Osteoporosis... ORPHA:98850
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Abscess, Failure to thrive in infancy, Fused cervical vertebrae, Osteopenia, Periosti... OMIM:612852
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Abnormal diaphysis morphology, Coxa valga, Osteopenia, Broad femo... ORPHA:85184
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Mandibular osteomyelitis, Multiple bony cystic lesions, Abnormal trabecu... ORPHA:83451
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly ORPHA:93304
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Vertebral wedging, Irregular acetabular roof, Abnormal shoulder morphology, Irregulari... ORPHA:1159
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Renal cyst, Myopathy, Polyhydramnios, Renal insufficiency, Cardiomyopathy, De... OMIM:614922
Infantile Myofibromatosis
Bone cyst, Osteolysis, Abnormal metaphysis morphology, Limitation of joint mobility ORPHA:2591
Desmoid Tumor
Osteolysis, Limitation of joint mobility ORPHA:873
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Microm... ORPHA:2098
Brachyolmia Type 2
Platyspondyly OMIM:613678
Nephronophthisis 13
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Hepatic cysts, Stage 5 chron... OMIM:614377
Dent Disease 1
Rickets, Bulging epiphyses, Osteomalacia, Delayed epiphyseal ossification, Femoral bowing, Sparse... OMIM:300009
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Increased susceptibility to fractures, Osteomyelitis, ... OMIM:166260
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Bulging epiphyses, Delayed epiphyseal ossification, Femoral bowing, Sparse bone trabecul... OMIM:264700
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebral bodies, Kypho... OMIM:616583
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Osteolysis, Abnormal long bone morphology, Pathologic fracture, Abnormali... ORPHA:52430
Vitamin D-Dependent Rickets, Type 2A
Rickets, Bulging epiphyses, Delayed epiphyseal ossification, Femoral bowing, Sparse bone trabecul... OMIM:277440
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Knee osteoarthritis, Stiff shoulders, Osteopenia, Platyspondyly, Bra... ORPHA:2619
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis, Bilateral cryptorchidism, Intrauterine growth retardation OMIM:617564
Metatropic Dysplasia
Scoliosis, Relatively short spine, Anisospondyly, Flared iliac wing, Halberd-shaped pelvis, Metap... OMIM:156530
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Diaphyseal thick... ORPHA:240
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Failure to thrive, Ecto... ORPHA:2485
Acromesomelic Dysplasia 2C
Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia of the radius, Short tibia, Abnor... OMIM:201250
Brachyolmia Type 1, Toledo Type
Irregular vertebral endplates, Short neck, Short femoral neck, Back pain, Squared-off platyspondy... OMIM:271630
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Hip dislocation, Abnormal cortical bon... ORPHA:2484
Osteogenesis Imperfecta, Type Xiv
Femoral bowing, Increased susceptibility to fractures, Osteopenia, Recurrent fractures OMIM:615066
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Alagille Syndrome 2
Proteinuria, Cholestatic liver disease, Pulmonic stenosis, Renal cyst, Atrial septal defect, Tetr... OMIM:610205
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Short lower limbs, Arthrogryposis multiplex congenita, Butterfly vertebrae,... OMIM:620076
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Hypoplastic left heart, Chronic kidney disease, Rhizomelia, Unilateral renal agenesis, Short stat... OMIM:617661
Papillorenal Syndrome
Horseshoe kidney, Multicystic kidney dysplasia, Proteinuria, Chronic kidney disease, Edema, Macul... OMIM:120330
Gamma-Heavy Chain Disease
Osteolysis, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte... ORPHA:100026
Greenberg Dysplasia
Abnormal form of the vertebral bodies, Rhizomelia, Micromelia, Platyspondyly, Anterior rib puncta... ORPHA:1426
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal metaphysis morphology, Flattened epiphysis, Broad femoral neck, Osteopenia, Tapered fing... ORPHA:157965
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Fractured radius, Decreased fibular diameter, Limb undergrowth, Short ... OMIM:616897
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal vertebral morphology, Restricted large joint movement ORPHA:163665
Felty Syndrome
Osteolysis, Anemia, Abnormal lymphocyte morphology, Arthritis, Thrombocytopenia, Limitation of jo... ORPHA:47612
Craniosynostosis, Camptodactyly of finger, Scoliosis, Abnormal long bone morphology, Failure to t... ORPHA:356961
Maffucci Syndrome
Osteolysis, Recurrent fractures ORPHA:163634
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flared femoral metaphysis, Flat distal femoral epiphysis, Broad femoral neck, Platyspondyly, Shor... OMIM:609324
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Microphthalmia, Ketonuria, Oligohydramnios, Hypertrophic cardiomyopathy, Renal hypo... OMIM:619053
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar aplasia, Wide capital femoral epiphyses, Patellar hypoplasia, Patellar dislocation, Shor... OMIM:147891
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Hydranencephaly, Neonatal death, Renal dysplasia, Stillbirth, Oligohydramnios, Arthro... OMIM:236500
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... ORPHA:3329
Hypophosphatemic Bone Disease
Rickets, Bowing of the legs, Osteomalacia OMIM:146350
Spondylometaphyseal Dysplasia, Kozlowski Type
Short distal phalanx of finger, Scoliosis, Short greater sciatic notch, Absent epiphyses of the p... ORPHA:93314
Fibrous Dysplasia Of Bone
Rickets, Patchy reduction of bone mineral density, Osteolysis, Fibrous dysplasia of the bones, Ab... ORPHA:249
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Lumbar hyperlordosis, Hip dysplasia, Abnormality of the knee, Abnormality of the vertebral column... ORPHA:99642
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Flared... OMIM:156510
Progressive Pseudorheumatoid Dysplasia
Enlarged epiphyses, Camptodactyly of finger, Joint stiffness, Genu varum, Decreased cervical spin... OMIM:208230
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Acute pancreatitis, Lower limb hypertonia, Recurrent urinary tract infections, Hepa... OMIM:619487
Microphthalmia, Syndromic 9
Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Tetralogy of Fallot, Multilobu... OMIM:601186
Hypercholanemia, Familial 1
Rickets, Failure to thrive OMIM:607748
Osteogenesis Imperfecta, Type X
Generalized joint laxity, Bowing of the long bones, Rhizomelia, Osteopenia, Micromelia, Short fem... OMIM:613848
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pes planus, Abnormal metaphysis morphology, Osteoporosis, Short metatarsal, Short metacarpal, Syn... ORPHA:93351
Hadziselimovic Syndrome
Pulmonary artery atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, S... OMIM:612946
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Genu varum, Irregular, rachitic-like metaphyses, Osteomalacia, Failure to thrive, Delaye... ORPHA:289157
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Slender build, Slender long bones with narrow diaphyses, Metaphyseal s... OMIM:608154
Verheij Syndrome
Renal cyst, Ventricular septal defect, Intrauterine growth retardation, Short stature, Optic nerv... OMIM:615583
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteolysis, Osteoporosis, Osteolysis involving bones of the lower limbs, Broad metacarpals, Carpa... ORPHA:371428
Atelosteogenesis Type I
Scoliosis, Abnormality of fibula morphology, Absent or minimally ossified vertebral bodies, Limb ... ORPHA:1190
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal tubular atrophy, Chronic kidney disease, Focal segmental glomerulosclerosis, T... OMIM:613092
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Type E brachydactyly, Limited elbow extension, Hip dysplasia, Abnormal hip joint morphology, Ovoi... ORPHA:1856
Weismann-Netter Syndrome
Calvarial hyperostosis, Lateral femoral bowing, Anterior tibial bowing, Fibular bowing, Squared i... OMIM:112350
Osteolysis, Abnormal cortical bone morphology, Genu varum, Anemia, Osteoporosis, Arthritis, Abnor... ORPHA:2796
Langer Mesomelic Dysplasia
Lumbar hyperlordosis, Radial bowing, Hypoplasia of the radius, Short tibia, Mesomelia, Short femo... OMIM:249700
Isolated Osteopoikilosis
Sclerosis of foot bone, Increased bone mineral density, Sclerotic foci in hand bones, Abnormal lo... ORPHA:166119
Femoral-Facial Syndrome
Abnormal sacrum morphology, Scoliosis, Abnormality of fibula morphology, Hip dysplasia, Micrognat... ORPHA:1988
Duchenne And Becker Muscular Dystrophy
Reduced bone mineral density, Scoliosis, Joint stiffness, Elevated circulating creatine kinase co... ORPHA:262
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Butterfly vertebrae, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Distal femoral bowi... ORPHA:289176
Osteoporosis OMIM:166710
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Polycystic kidney dysplasia, Enlarged kidney, Atrial septal defect, Chole... OMIM:208540
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ventricular septal defect, Ectopic kidney, Death in infancy, Optic disc pallor, M... OMIM:613730
Short distal phalanx of finger, Scoliosis, Radial metaphyseal irregularity, Osteoarthritis, Irreg... OMIM:177170
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Polycystic kidney dysplasia, Edema, Hepatomegaly, Pericardial effusion, Abnor... OMIM:608776
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Scoliosis, Flattened epiphysis, Rhizomelia, Dislocated radial head, Knee fl... ORPHA:166016
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Localized osteoporosis, Abnormality of the tibial plateaux, Flattened femoral head, Hu... ORPHA:93284
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... OMIM:618270
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Abnormality of the lower limb, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal chondrodysplasia, Short distal phalanx of finger, Scoliosis, Irregular acetabular roo... OMIM:156500
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Increased nuchal translucency, Hydronephrosis, Cryptorchidism, Coarctation of aorta, Ventricular ... OMIM:618494
Epiphyseal Chondrodysplasia, Miura Type
Fifth finger distal phalanx clinodactyly, Osteopenia, Broad hallux, Long hallux, Arachnodactyly, ... OMIM:615923
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Osteomalacia, Abnormal foot morphology, Increased susceptibility to... OMIM:146300
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation... OMIM:616217
Monosomy 5P
Abnormality of bone mineral density, Finger syndactyly, Microretrognathia, Joint hyperflexibility... ORPHA:281
Gaucher Disease Type 1
Increased bone mineral density, Osteolysis, Leukopenia, Pathologic fracture, Anemia, Osteoarthrit... ORPHA:77259
Hydrops Fetalis
Nonimmune hydrops fetalis, Miscarriage, Abnormality of the kidney, Arrhythmia, Polyhydramnios, Ca... ORPHA:1041
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Reduced bone mineral density, Abnormality of limb bone morphology, Interphalangeal joint erosions... ORPHA:85435
Coxoauricular Syndrome
Reduced bone mineral density, Hip dislocation, Micromelia, Abnormality of femur morphology, Abnor... ORPHA:1508
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis OMIM:122860
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Small thenar eminence, Pulmonic stenosis, Joint contracture of the 5th finger, Umb... OMIM:618914
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Scoliosis, Lumbar hyperlordosis, Irregular vertebral endplates, Fla... OMIM:609616
Even-Plus Syndrome
Recurrent urinary tract infections, Severe short stature, Atrial septal defect, Patent foramen ov... OMIM:616854
Aplasia Cutis Congenita
Toe syndactyly, Finger syndactyly, Abnormality of bone mineral density ORPHA:1114
Secundum atrial septal defect, Proteinuria, Renal tubular atrophy, Dehydration, Stage 5 chronic k... ORPHA:2260
Cat-Eye Syndrome
Hydronephrosis, Iris coloboma, Renal hypoplasia/aplasia, Intrauterine growth retardation, Microph... ORPHA:195
Short Rib-Polydactyly Syndrome
Abnormal long bone morphology, Absent or minimally ossified vertebral bodies, Polydactyly, Short ... ORPHA:1505
Generalized joint laxity, Rhizomelia, Radial bowing, Bowing of the legs, Brachydactyly, Severe pl... OMIM:100800
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Short Stature, Dauber-Argente Type
Reduced bone mineral density, Decreased fibular diameter, Osteopenia, Long fingers, Long toe, Ara... OMIM:619489
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar keratoderma, Osteolysis, Ankylosis, Palmoplantar hyperhidrosis ORPHA:659
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Ventricular septal defect, Polyhydramnios, Abnormality of mesentery morphology, H... ORPHA:2256
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal metacarpophalangeal joint morphology, Hip dysplasia, Osteoarthritis, Flattened femoral h... ORPHA:166011
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Limb undergrowth, Hypoplastic vertebral bodies, Coxa valga, Sea-blue histiocytos... OMIM:230600
Morquio Syndrome C
Platyspondyly OMIM:252300
Multicentric Osteolysis, Nodulosis, And Arthropathy
Pes cavus, Interphalangeal joint contracture of finger, Thin bony cortex, Broad metatarsal, Campt... OMIM:259600
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Enlarged kidney, Anasarca, Cardiomyopathy, Hypertrophic cardiomyopathy, Br... OMIM:261740
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyal... ORPHA:231736
Osteogenesis Imperfecta, Type V
Limited pronation/supination of forearm, Hyperextensibility at elbow, Vertebral wedging, Osteopen... OMIM:610967
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Stroke, Reduced left ventricular ejection fraction, Hepatomegaly, Ventricular hyp... OMIM:115197
Renal Coloboma Syndrome
Renal insufficiency, Renal dysplasia, Optic nerve dysplasia, Optic disc coloboma, Vesicoureteral ... ORPHA:1475
Bruck Syndrome 1
Scoliosis, Osteoporosis, Knee flexion contracture, Vertebral wedging, Kyphosis, Platyspondyly, Pr... OMIM:259450
Intermediate Osteopetrosis
Hepatosplenomegaly, Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormal... ORPHA:210110
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... ORPHA:93322
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Shortening of the talar neck, Osteoarthritis, Hypophosphatemic rickets, Osteomalacia, Tr... OMIM:307800
Cach Syndrome
Hepatosplenomegaly, Optic neuritis, Arthrogryposis multiplex congenita, Pancreatitis, Intrauterin... ORPHA:135
Atelosteogenesis Type Ii
Increased femoral anteversion, Rhizomelia, Micromelia, Hypoplastic cervical vertebrae, Short phal... ORPHA:56304
Senior-Boichis Syndrome
Cholestasis, Renal corticomedullary cysts, Abnormal renal insterstitial morphology, Carotid arter... ORPHA:84081
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Cardiomyocyte hypertrophy, Death in adolescence, Left ventricular hypertrophy, Le... OMIM:612158
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short distal phalanx of finger, Acroosteolysis of distal phalanges (feet), Osteolysis, Osteolytic... ORPHA:90154
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Abnormality of bone mineral density, Synostosis of carpal bones, Mesomel... ORPHA:2741
Ivic Syndrome
Short 1st metacarpal, Scoliosis, Leukocytosis, Absent thumb, Short thumb, Preaxial polydactyly, S... OMIM:147750
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Int... OMIM:609053
Adams-Oliver Syndrome 6
Ventricular septal defect, Hepatic fibrosis, Tricuspid regurgitation, Portal hypertension, Truncu... OMIM:616589
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Intrauterine growth retardation, Pericardial effusion, Oligohydramnios, Hypertrophi... OMIM:614702
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Lower-limb metaphyseal irregularity, Scoliosis, Genu varum, Irregular femoral epiphysis, Platyspo... OMIM:618728
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Abnormal metaphysis morphology, Short greater sciatic notch, Joint stiffness, B... ORPHA:1860
Renal Hypoplasia, Bilateral
Microscopic hematuria, Proteinuria, Cryptorchidism, Glycosuria, Chronic kidney disease, Beta 2-mi... ORPHA:97362
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis, Platyspondyly OMIM:271600
Desbuquois Dysplasia 1
Scoliosis, Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short me... OMIM:251450
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Pes planus, Club-shaped proximal femur, Scoliosis, Hypoplasia of the odontoid process, Hyperlordo... OMIM:184250
Stuve-Wiedemann Syndrome 1
Scoliosis, Clubbing, Pathologic fracture, Absent patellar reflexes, Contracture of the proximal i... OMIM:601559
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Atrial septal defect, Renal cyst, Bile duct proliferati... OMIM:611134
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Death in childhood, Camptodactyly, Hepatomegaly, Aminoaciduria, Lacticaciduria, Flexion contractu... OMIM:604273
Chondroectodermal Dysplasia With Night Blindness
Abnormal patella morphology, Epiphyseal dysplasia, Abnormality of the knee, Osteoporosis, Equinov... ORPHA:319195
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia, Tricuspid regurgitation OMIM:600151
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Acroosteolysis of distal phalanges (feet), Osteolysis, Osteolytic... ORPHA:90153
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins... OMIM:143400
Matthew-Wood Syndrome
Cryptorchidism, Abnormal spleen morphology, Horseshoe kidney, Intrauterine growth retardation, Mi... ORPHA:2470
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Cryptorchidism, Pericardial effusion, Micropenis OMIM:614684
Nestor-Guillermo Progeria Syndrome
Osteolysis, Progressive clavicular acroosteolysis, Osteolytic defects of the distal phalanges of ... OMIM:614008
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Vitamin D-Dependent Rickets, Type 3
Genu varum, Metaphyseal cupping, Osteopenia, Flared metaphysis, Bowing of the legs OMIM:619073
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Scoliosis, Dumbbell-shaped femur, Irregular, rachitic-like metaphys... OMIM:184252
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Thoracolumbar scoliosis, Knee flexion contracture, Kyphosis, Tapered finger, Platys... OMIM:313420
Meckel Syndrome, Type 7
Situs inversus totalis, Hepatosplenomegaly, Multiple glomerular cysts, Biliary cirrhosis, Stage 5... OMIM:267010
Atelosteogenesis, Type I
Clubbing, Rhizomelia, Short metatarsal, Knee dislocation, Fibular aplasia, Multinucleated giant c... OMIM:108720
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614376
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Metaphyseal irregularity, Squared-off platyspondyly, Bowing of the legs, Generalized b... ORPHA:93352
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Micromelia, Metaphyseal irregularity, Coxa vara, Central vertebral hypoplasia, Short n... OMIM:602557
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Hip dislocation, Short neck, Irregular vertebral endplates, Delayed ossification of ca... OMIM:618395
Hypocomplementemic Urticarial Vasculitis
Proteinuria, Glomerulopathy, Small vessel vasculitis, Angioedema, Renal insufficiency, Abnormal h... ORPHA:36412
Calvarial Doughnut Lesions With Bone Fragility
Femoral bowing, Osteoporosis, Osteopenia, Recurrent fractures OMIM:126550
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Osteolysis, Narrow foramen obturatorium, Arthritis ORPHA:220393
Sclerosing Cholangitis, Neonatal
Ductal bile plugs, Jaundice, Cholestasis, Acholic stools, Bile duct proliferation, Hepatic bridgi... OMIM:617394
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... OMIM:601493
Orofaciodigital Syndrome Xvii
Short stature, Micropenis, Renal hypoplasia, Tetralogy of Fallot OMIM:617926
Odontochondrodysplasia 1
Scoliosis, Metaphyseal cupping, Irregular epiphyses, Micromelia, Flared iliac wing, Biconvex vert... OMIM:184260
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Short femur, Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypop... OMIM:612447
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Short distal phalanx of finger, Short thumb, Proximal placement o... ORPHA:90650
Orofaciodigital Syndrome Type 10
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Hypoplasia o... ORPHA:2756
Distal Duplication 6P
Hydronephrosis, Intrauterine growth retardation, Short stature, Aplasia/Hypoplasia affecting the ... ORPHA:1745
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Osteoarthritis, Spondylolisthesis, Spina bifida occulta OMIM:184300
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Atrial septal defect, Ventricular septal defect, Pulmonary... ORPHA:75389
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Intrauterine growth retardation, Short stature, Optic nerve hypoplasia, Microp... OMIM:617914
Hyperparathyroidism, Transient Neonatal
Metaphyseal spurs, Short ribs, Osteopenia, Short femur, Short long bone, Fractured rib, Recurrent... OMIM:618188
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Arthritis, Splenomegaly, Osteolytic defects of the phalan... OMIM:228000
Bruck Syndrome 2
Knee flexion contracture, Osteopenia, Increased susceptibility to fractures, Talipes equinovarus,... OMIM:609220
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Abnormal humerus morphology, Abnormal sacrum morphology, Osteolysis, Abnormal... ORPHA:464329
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... OMIM:613642
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Growth delay, Uraciluria, Coloboma OMIM:274270
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Micropenis, Umbilical hernia, Patent ductus arteriosus, Renal agenesis, Renal hyp... ORPHA:171839
Gombo Syndrome
Delayed puberty, Microphthalmia, Abnormal heart morphology OMIM:233270
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Irregular vertebral endplates, Osteoporosis, Kyphosis, Failure to thrive, Platyspondyl... OMIM:234250
Immunodeficiency 76
Lymphopenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Solitary Bone Cyst
Lytic defects of the radius, Pathologic fracture, Abnormal ilium morphology, Abnormal humeral dia... ORPHA:83468
Split-Hand/Foot Malformation 3
Camptodactyly, Renal hypoplasia OMIM:246560
Abnormality of the lower limb, Osteolysis, Ankylosis, Abnormal foot morphology ORPHA:182
Pelviscapular Dysplasia
Hypoplastic ilia, Congenital hip dislocation, Short neck, Hypoplastic scapulae, Short femur, Meso... ORPHA:93333
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Alpha-aminoadipic aciduria, Cardiomyopathy, Skeletal muscle atrophy, Optic atrophy, Elevated urin... OMIM:620089
Burn-Mckeown Syndrome
Atrial septal defect, Hypomimic face, Ventricular septal defect, Unilateral renal agenesis, Short... OMIM:608572
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Death in childhood, Encephalocele, Muscular dystrophy, Retinal detachment, Death in infancy, Micr... OMIM:614643
Occipital Horn Syndrome
Rickets, Scoliosis, Hip dislocation, Hip dysplasia, Osteomalacia, Humerus varus, Coxa vara, Brach... ORPHA:198
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Mitral regurgitation, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Left v... OMIM:619167
Birk-Landau-Perez Syndrome
Tubulointerstitial nephritis, Limb hypertonia, Renal insufficiency, Hypertension, Intrauterine gr... OMIM:617595
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Failure to thrive OMIM:602722
Sapho Syndrome
Craniofacial osteosclerosis, Osteolysis, Enthesitis, Hyperostosis, Arthritis, Abnormal sacroiliac... ORPHA:793
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Small for gestational age, Decreased circulating total IgM, Butterfly vertebrae, S... OMIM:607143
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Atrial septal defect, Limb hypertonia, Polyhydramnios, Urinary incontinence, Aortic aneurysm, Dea... OMIM:620070
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Osteolysis, Liver abscess, Palmoplantar keratoderma, Arach... ORPHA:678
Microcephaly-Micromelia Syndrome
Craniosynostosis, Oligodactyly, Forearm undergrowth, Absent radius, Short neck, Missing ribs, Sho... OMIM:251230
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Scoliosis, Hip dislocation, Generalized joint laxity, Metaphyseal irregularity, Kyphoscoliosis, F... ORPHA:93360
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Microphthalmia, Bup... ORPHA:91495
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Osteoporosis, Kyphosis ORPHA:2786
Osteogenesis Imperfecta, Type Xxi
Scoliosis, Osteoporosis, Coxa valga, Pes valgus, Platyspondyly, Recurrent fractures, Pes planus, ... OMIM:619131
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Decreased body weight, Abnormal cortical bone morphology OMIM:614886
Atelosteogenesis Type Iii
Abnormality of the humerus, Hip dislocation, Absent radius, Abnormal cervical curvature, Laryngot... ORPHA:56305
Vacterl Association With Hydrocephalus
Stillbirth, Renal hypoplasia, Abnormal heart morphology OMIM:276950
Microphthalmia, Syndromic 2
Ventricular septal defect, Atrial septal defect, Hypoplastic aortic arch, Phthisis bulbi, Mitral ... OMIM:300166
Atelis Syndrome 2
Pulmonic stenosis, Supravalvar pulmonary stenosis, Microphthalmia, Elevated circulating thyroid-s... OMIM:620185
Boomerang Dysplasia
Abnormality of the humerus, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Poorly... ORPHA:1263
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Lumbar hyperlordosis, Short metatarsal, Capitate-hamate fusion, Short me... OMIM:271650
Emanuel Syndrome
Recurrent urinary tract infections, Torticollis, Cryptorchidism, Micropenis, Pulmonic stenosis, V... OMIM:609029
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Craniofaciofrontodigital Syndrome
Stroke, Ventricular septal defect, Atrial septal defect, Persistent fetal circulation, Pulmonary ... ORPHA:363705
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Rickets, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume... OMIM:611590
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short finger, Scoliosis, Joint stiffness, Hypoplastic inferior ilia, Metaphyseal cupping, Metaphy... OMIM:608940
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Pseudohypoparathyroidism, Vesicoureteral reflux, Renal hypoplasia, Coloboma ORPHA:464288
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Cervical instability, Laryngotracheomalacia, Delayed ossification of carpal bones, Platyspondyly,... ORPHA:93346
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Irregular vertebral endplates, Flattened epiphysis, Dislocated radial he... OMIM:612350
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... OMIM:615396
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Atrial Standstill
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... ORPHA:1344
Congenital Disorder Of Glycosylation, Type Ia
Death in childhood, Nonimmune hydrops fetalis, Proteinuria, Edema, Renal cyst, Cardiomyopathy, He... OMIM:212065
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Abnormal cortical bone morphology, Abnormal metaphysis morphology, Absen... ORPHA:3206
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Metaphyseal widening, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic scapulae, Micromelia, Sh... ORPHA:440354
Kyphomelic Dysplasia
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Micrognathia, Uln... OMIM:211350
Marden-Walker Syndrome
Camptodactyly, Dextrocardia, Cryptorchidism, Micropenis, Decreased muscle mass, Intrauterine grow... OMIM:248700
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Cryptorchidism, Decreased numbers of nephrons,... OMIM:617641
Duane-Radial Ray Syndrome
Hydronephrosis, Small thenar eminence, Iris coloboma, Optic disc hypoplasia, Ventricular septal d... OMIM:607323
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Tooth abscess, Iron deficiency anemia, Bowing of the legs ORPHA:89937
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Delayed puberty, Cryptorchidism, Intrauterine growth retardation, Short stature, Growth delay, Pr... OMIM:616817
Smith-Mccort Dysplasia 1
Scoliosis, Genu varum, Short neck, Multicentric femoral head ossification, Hypoplastic scapulae, ... OMIM:607326
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Hepatomegaly, Chylopericardi... ORPHA:2414
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Limb undergrowth, Metaphyseal widening, Short ribs, Lumbar platyspondyly, Increased intervertebra... OMIM:618961
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Osteoarthritis ORPHA:93283
Pseudotrisomy 13 Syndrome
Encephalocele, Cyclopia, Dextrocardia, Cryptorchidism, Micropenis, Coarctation of aorta, Ventricu... OMIM:264480
Scoliosis, Abnormality of fibula morphology, Generalized joint laxity, Osteoarthritis, Anisospond... ORPHA:85198
Meckel Syndrome, Type 2
Encephalocele, Renal cyst, Meningocele, Bile duct proliferation, Intrauterine growth retardation,... OMIM:603194
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Contracture of the proximal in... OMIM:609813
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Genu varum, Metaphyseal cupping, Flattened epiphysis, Rhizomelia, Pear-s... OMIM:602111
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Short tibia, Syndactyly, Fibular aplasia, Hand oligodactyly, Tibial bowing OMIM:246570
Fanconi Anemia, Complementation Group F
Cryptorchidism, Vesicoureteral reflux, Microphallus, Atrial septal defect, Polyhydramnios, Intrau... OMIM:603467
Bruck Syndrome
Scoliosis, Joint stiffness, Osteoporosis, Kyphosis, Platyspondyly, Recurrent fractures, Arthrogry... ORPHA:2771
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology, Missing ribs, Bifid femur, Aplasia/hypoplasia of the femur, Ap... ORPHA:2769
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Axial Spondylometaphyseal Dysplasia
Scoliosis, Acromesomelia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Thoracic s... ORPHA:168549
Dent Disease
Rickets, Enlarged epiphyses, Bulging epiphyses, Abnormality of the lower limb, Osteomalacia, Dela... ORPHA:1652
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... OMIM:200500
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Irregular vertebral endplates, Short neck, Cervical subluxation, Arthritis,... OMIM:184100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubular basement membrane disintegration, Decreased glomerular filtration ... OMIM:174000
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Overlapping toe, Wide anterior fontanel, Short tibia, Micrognathia, 11 pairs of rib... OMIM:201170
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Leukopenia, Refractory anemia, Thrombocytopenia, Hyperostosis cra... OMIM:231095
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Scoliosis, Multiple prenatal fractures, Kyphosis, Bowing of limbs due to multi... OMIM:259440
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility ORPHA:168555
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Pulmonary lymphangiectasia, In... OMIM:235510
Schwartz-Jampel Syndrome, Type 1
Scoliosis, Anterior bowing of long bones, Elevated circulating creatine kinase concentration, Mic... OMIM:255800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Short lower limbs, Genu varum, Flattened epiphysis, Pear-shaped vertebrae, M... ORPHA:93356
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Abnormal foot morphology, Fibula... OMIM:605274
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Cryptorchidism, Anasarca, Polyhydramnios, Death in infancy, Renal dysplasia, Elevat... OMIM:618183
Senior-Loken Syndrome
Cone-shaped epiphysis, Abnormality of bone mineral density ORPHA:3156
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly OMIM:608361
Immunodeficiency 105
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... OMIM:619924
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Thoracic kyphosis, Short neck, Ovoid vertebral bodies, Flattened ... ORPHA:163649
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Proteinuria, Pleural effusion, Edema, Renal insufficiency, Nephrotic syndrome... ORPHA:93552
Cenani-Lenz Syndactyly Syndrome
Ectopic kidney, Pulmonic stenosis, Renal agenesis, Renal hypoplasia OMIM:212780
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Andersen-Tawil Syndrome
Prolonged QTc interval, Polymorphic and polytopic ventricular extrasystoles, Abnormal T-wave, Tor... ORPHA:37553
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Pes cavus, Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial me... ORPHA:457395
Multiple Epiphyseal Dysplasia Type 4
Hip dysplasia, Short thumb, Metatarsal synostosis, Flattened epiphysis, Rhizomelia, Short metatar... ORPHA:93307
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short distal phalanx of finger, Scoliosis, Vertebral wedging, Biconvex vertebral bodies, Metaphys... ORPHA:93315
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Iris coloboma, Chorioretinal coloboma, Hematuria, Microphthalmia OMIM:120433
Erdheim-Chester Disease
Increased bone mineral density, Osteolysis, Abnormal metaphysis morphology, Anemia, Abnormal epip... ORPHA:35687
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation, Occipital encephalocele, Microphthalmia, Anencephaly OMIM:611561
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Osteoporosis, Cone-shaped epiphysis ORPHA:71267
Meckel Syndrome 12
Arrhinencephaly, Intrauterine growth retardation, Oligohydramnios, Bilateral renal agenesis, Arth... OMIM:616258
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Abnormal mitochondria in muscle tissue, Left ventricular noncompaction, Pigmentary retinopathy, S... OMIM:252011
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abn... ORPHA:2064
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Cholestasis, Progressive Familial Intrahepatic, 1
Rickets, Splenomegaly, Osteopenia, Failure to thrive OMIM:211600
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericardial effusion, Pericarditis, Hematuria ORPHA:231111
Thalidomide Embryopathy
Radial club hand, Abnormality of fibula morphology, Aplasia/Hypoplasia of the thumb, Aplasia/hypo... ORPHA:3312
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Polyhydramnios, Renal dysplasia, Abnormal biliary tract mor... ORPHA:3032
H Syndrome
Hepatosplenomegaly, Camptodactyly, Osteolysis, Hallux valgus, Microcytic anemia, Histiocytosis, R... ORPHA:168569
Mixed Connective Tissue Disease
Osteolysis, Joint stiffness, Leukopenia, Hemolytic anemia, Arthritis, Splenomegaly ORPHA:809
Congenital Anomalies Of Kidney And Urinary Tract 1
Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve... OMIM:610805
Primary Effusion Lymphoma
Pleural effusion, Abnormality of the peritoneum, Pericardial effusion ORPHA:48686
Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Limited elbow extension, Hypoplastic ilia, Hip dislocation, Hip dysplasia, Ulnar deviation of fin... ORPHA:93359
Mungan Syndrome
Pulmonic stenosis, Perimembranous ventricular septal defect, Tricuspid regurgitation, Vesicourete... OMIM:611376
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping, Hypoplasia of the calcaneus, Rhizomelia, Platyspondyly, Decreased skull ossi... OMIM:300863
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Lumbar scoliosis, Kyphoscoliosis, Platyspondyly, Irregular vertebral endplates OMIM:612847
Endove Syndrome, Limb-Only Type
3-4 finger syndactyly, Triangular tibia, Disproportionate shortening of the tibia, Short middle p... OMIM:619217
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Knee osteoarthritis, Camptodactyly of toe, Camptodactyly of finger, ... ORPHA:2848
Joubert Syndrome 6
Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Reti... OMIM:610688
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Proximal placement of thumb, Short neck, Rhizomelia, Abnormal epi... ORPHA:93267
Emanuel Syndrome
Cryptorchidism, Micropenis, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, U... ORPHA:96170
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Unilateral micropht... ORPHA:137902
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Scoliosis, Wide anterior fontanel, Short metacarpal, Multiple prenatal fractures, ... OMIM:610915
Hardikar Syndrome
Ventricular septal defect, Atrial septal defect, Hydroureter, Pigmentary retinopathy, Cholestasis... OMIM:301068
Dworschak-Punetha Neurodevelopmental Syndrome
Unilateral renal hypoplasia, Dilation of Virchow-Robin spaces, Vesicoureteral reflux, Optic disc ... OMIM:619955
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Umbilical herni... OMIM:619758
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Limited elbow extension, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphy... OMIM:608728
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Hypoplastic left heart, Atrial septal defect, Short stature, Aortic valve sten... OMIM:617660
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Pathologic fracture, Anemia, Osteopetrosis, Cortical sclerosis OMIM:620366
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Cryptorchidism, Umbilical hernia, Renal insufficiency, Short stature, Hypoplasia of penis, Renal ... ORPHA:85321
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Pathologic fracture, Hypophosphatemic rickets, Osteomalacia, Bowing... ORPHA:157215
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Hip dislocation, Joint stiffness, Hip dysplasia, Avascular necrosis of the capital femor... ORPHA:1901
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent left superior vena cava, Ventricular septal defect, Papilledema, Intrauterine growth r... OMIM:618775
Fanconi Anemia, Complementation Group W
Intrauterine growth retardation, Decreased response to growth hormone stimulation test, Polysplen... OMIM:617784
Biemond Syndrome Type 2
Delayed puberty, Short stature, Microphthalmia, Hypospadias, Coloboma ORPHA:141333
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Microphthalmia, Buphthalmos, Phthisis bulbi, Retinal nonattachment, Hyphema, Remna... OMIM:221900
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Occipital encephalocele, Multicystic kid... OMIM:607361
Osteopetrosis, Autosomal Dominant 2
Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur... OMIM:166600
Microphthalmia With Limb Anomalies
Hip dislocation, Abnormal form of the vertebral bodies, Short tibia, Toe syndactyly, Broad thumb,... ORPHA:1106
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... OMIM:618773
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral... OMIM:223800
Hajdu-Cheney Syndrome
Short distal phalanx of finger, Scoliosis, Partial absence of toe, Patellar dislocation, Short to... ORPHA:955
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly, Scoliosis, Amelia OMIM:601357
Kniest Dysplasia
Tracheomalacia, Lumbar kyphoscoliosis, Hip dislocation, Dumbbell-shaped femur, Genu varum, Short ... OMIM:156550
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication OMIM:188740
Cockayne Syndrome Type 3
Stroke, Vascular calcification, Urinary retention, Retinal atrophy, Hydroureter, Cardiomyopathy, ... ORPHA:90324
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Hip dislocation, Ivory epiphyses of the toes, Irregular vertebral endplates... OMIM:226980
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Reduced bone mineral density, Scoliosis, Osteoporosis, Dislocated... OMIM:614856
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Short stature, Microphthalmia OMIM:257910
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Cryptorchidism, Spina bifida, Renal transitional cell carcinoma, Arrhythmia, ... ORPHA:2874
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Limited elbow extension, Scoliosis, Narrow pelvis bone, Short neck, Overlapping... OMIM:616723
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar interpedicular narrowing, Rhizomelia, Metaphyseal irregularity, Kyphoscoliosis, Small epip... OMIM:271510
X-Linked Hypophosphatemia
Rickets, Abnormal lower-limb metaphysis morphology, Flared iliac wing, Bowing of the legs, Upper ... ORPHA:89936
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Otospondylomegaepiphyseal Dysplasia
Abnormal long bone morphology, Osteoarthritis, Short phalanx of finger, Brachydactyly, Tibial bow... ORPHA:1427
Geroderma Osteodysplastica
Scoliosis, Hip dislocation, Osteoporosis, Abnormal epiphysis morphology, Vertebral compression fr... ORPHA:2078
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Horseshoe kidney, Short stature, Unilateral microphthalmos, Bicuspid ao... OMIM:619318
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Hydronephrosis, Thyroid dysgenesis, Cryptorchidism, Decreased... OMIM:146510
Alagille Syndrome 1
Stroke, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pigmentary retinopa... OMIM:118450
Pseudodiastrophic Dysplasia
Platyspondyly, Scoliosis ORPHA:85174
Cantu Syndrome
Umbilical hernia, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Pe... OMIM:239850
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Hydrops fetalis, Renal cyst, Hepatic fibrosis, Short stature, Ascite... OMIM:614091
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal dysplasia, Renal hypoplasia, Urethral obstruction, Hypertrophy of the urinary bladder OMIM:601389
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydr... OMIM:266810
Spondyloperipheral Dysplasia
Short distal phalanx of finger, Short distal phalanx of the 2nd finger, Short thumb, Rhizomelic l... OMIM:271700
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Arthrogryposis multiplex congenita, Edema, Microphthalmia OMIM:616570
Smith-Mccort Dysplasia 2
Broad metatarsal, Limited elbow extension, Pes planus, Short neck, Flattened epiphysis, Short met... OMIM:615222
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Nephrocalcinosis, Hypermagnesiuria, Hyperprostaglandinuria, Hepatic calcification, Hypercalciuria... ORPHA:73224
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Intrauterine growth retardation, Short stature, Microphthalmia, Remnants of t... ORPHA:2714
Q Fever
Myocarditis, Hepatosplenomegaly, Vasculitis, Endocarditis, Abnormality of the liver, Abnormal hea... ORPHA:781
Craniofacial hyperostosis, Increased bone mineral density, Abnormal metaphysis morphology, Irregu... ORPHA:1782
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia, Morning glo... OMIM:165550
Faciocardiomelic Syndrome
Polydactyly, Slender long bone, Osteopenia, Micrognathia, Hypoplastic pelvis, Thin bony cortex, L... OMIM:612731
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Muscular dystrophy, Sudden ... ORPHA:300751
Atelosteogenesis, Type Ii
Scoliosis, Lumbar hyperlordosis, Dumbbell-shaped femur, Short greater sciatic notch, Limb undergr... OMIM:256050
12Q14 Microdeletion Syndrome
Horseshoe kidney, Ectopic kidney, Skeletal muscle atrophy, Intrauterine growth retardation, Short... ORPHA:94063
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Cardiomyopathy, Intrauterine growth r... OMIM:619003
Chime Syndrome
Osteolysis, Hip dislocation, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the phalanges o... ORPHA:3474
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Short ... OMIM:612576
Infantile Systemic Hyalinosis
Camptodactyly of finger, Joint stiffness, Osteoporosis, Osteopenia, Osteomalacia, Micromelia, Fai... ORPHA:2176
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the uppe... ORPHA:464321
Anauxetic Dysplasia 1
Short finger, Limited elbow extension, Hypoplastic ilia, Lumbar hyperlordosis, Thoracic kyphosis,... OMIM:607095
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Hydroureter, Polyhydramnios, Abnormality of the bladder, Hypoplasia of p... ORPHA:2547
Osteogenesis Imperfecta, Type Xv
Scoliosis, Bowing of limbs due to multiple fractures, Platyspondyly, Recurrent fractures, Joint h... OMIM:615220
Porphyria, Congenital Erythropoietic
Osteolysis, Hemolytic anemia, Pathologic fracture, Osteopenia, Joint contracture of the hand, Thr... OMIM:263700
Osteogenesis Imperfecta, Type Xvi
Small for gestational age, Rhizomelia, Mesomelia, Osteopenia, Vertebral compression fracture, Pla... OMIM:616229
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Osteoporosis, Failure to thrive OMIM:560000
Khan-Khan-Katsanis Syndrome
Hydronephrosis, Renal cyst, Pigmentary retinopathy, Intrauterine growth retardation, Short statur... OMIM:618460
Autosomal Recessive Polycystic Kidney Disease
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Growth delay, Recurrent urinary tract ... ORPHA:731
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Osteolysis involving bones of the lower limbs, Syndactyly, Osteolysis involving bo... ORPHA:88630
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Iris coloboma, Retinal detachment, Microphthalmia, Chorioretinal coloboma, Hematuria, Optic atrophy ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Anemia, Thrombocytopenia, Pancytopenia, Increased sus... ORPHA:77261
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Ventricular septal defect, Horseshoe kidney, Tetralogy of Fallot, Atrioventricular canal defect, ... ORPHA:508498
Trisomy 13
Hydronephrosis, Cryptorchidism, Iris coloboma, Hydrops fetalis, Abnormal retinal vascular morphol... ORPHA:3378
Alpha-Mannosidosis, Infantile Form
Craniosynostosis, Hepatosplenomegaly, Osteolysis, Bilateral coxa valga, Bilateral talipes equinov... ORPHA:309282
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head, Osteopenia, Obesity