Not currently registered for phenotyping at IMPC

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

Gene Summary

notch 2
N2,  Motch B

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Notch2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormality of tibia morphology, Bowi... ORPHA:1802
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort... ORPHA:564003
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Rhizomelic Chondrodysplasia Punctata, Type 3
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... ORPHA:3152
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Abnormality of t... ORPHA:970
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Bowing of the long bones, Thickened co... ORPHA:53697
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Familial Expansile Osteolysis
Osteolysis, Thin bony cortex, Bowing of the long bones, Pathologic fracture OMIM:174810
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... ORPHA:75508
Hyaline Fibromatosis Syndrome
Failure to thrive, Flexion contracture, Osteopenia, Osteoporosis, Osteolysis, Progressive flexion... OMIM:228600
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Upper limb undergrowth, Pathologic fracture, Short foot, Abnormal cortical bone... ORPHA:166277
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis OMIM:608805
Dysplastic Cortical Hyperostosis
Limb undergrowth, Abnormal cortical bone morphology, Abnormality of limb bone morphology, Increas... ORPHA:2204
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Osteoporosis, Osteolysis, Weight loss, Anemia ORPHA:100024
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis ORPHA:2776
Abnormal femoral metaphysis morphology, Abnormal tibial metaphysis morphology, Pathologic fractur... ORPHA:668
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Joint stiffness, Osteoarthritis, Abnormality of tibia morphology, Arthritis, Deviation of finger,... ORPHA:1525
Juvenile Hyaline Fibromatosis
Joint stiffness, Abnormal diaphysis morphology, Osteolysis, Progressive flexion contractures ORPHA:2028
Caffey Disease
Bowing of the legs, Tibial bowing, Joint hypermobility, Periosteal thickening of long tubular bon... OMIM:114000
Dermatoosteolysis, Kirghizian Type
Joint contracture of the hand, Flexion contracture, Split hand, Osteolysis, Ankle swelling, Broad... OMIM:221810
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... ORPHA:2114
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Platyspondyly, Scoliosis ORPHA:3180
Rosaï-Dorfman Disease
Anemia, Osteolysis ORPHA:158014
Gorham-Stout Disease
Abnormality of femur morphology, Osteomyelitis, Abnormal bone ossification, Abnormality of finger... ORPHA:73
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Metatropic Dysplasia
Joint stiffness, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodactyly of the... ORPHA:2635
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Thin bony cortex, Pes planus, Broad thumb, Rhizomelia, Short 4th metacarpal, Shor... OMIM:619638
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:600081
Caffey Disease
Cortical irregularity, Cortical thickening of long bone diaphyses, Periosteal thickening of long ... ORPHA:1310
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Abnormal epip... ORPHA:2501
Nephrotic syndrome, Death in childhood, Nephropathy, Renal insufficiency, Bone-marrow foam cells,... OMIM:256150
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Platyspondyly, Hip o... OMIM:604864
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Camptodactyly of finger, Micrognathia, Slender long bone, Osteolysis, Carpal osteolysis... ORPHA:2774
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Reduced bone mineral density, Slender long bone, Thin bony cortex, Pseudoart... OMIM:619795
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Ollier Disease
Joint stiffness, Micromelia, Osteolysis, Abnormal metaphysis morphology, Anemia ORPHA:296
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... OMIM:607078
Cervical platyspondyly, Scoliosis, Camptodactyly of finger, Camptodactyly OMIM:600000
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Ramon Syndrome
Failure to thrive, Osteolysis ORPHA:3019
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Honeycomb palmoplantar hyperkeratosis, Osteolysis ORPHA:494
Tenosynovial Giant Cell Tumor
Joint stiffness, Abnormality of the ankles, Abnormal hip joint morphology, Osteolysis, Abnormal s... ORPHA:66627
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... OMIM:617719
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Grant Syndrome
Abnormality of the glenoid fossa, Micrognathia, Decreased skull ossification, Bowing of the long ... ORPHA:2097
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses, Obesity OMIM:264010
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari... OMIM:183849
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Abnormal hip bone morphology, Ost... ORPHA:93160
Ck Syndrome
Slender build, Micrognathia, Abnormal digit morphology, Joint hypermobility, Abnormal cortical bo... OMIM:300831
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Scoliosis, Arthritis, Osteo... ORPHA:324964
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Pierson Syndrome
Retinal vascular tortuosity, Proteinuria, Hypoplasia of the ciliary body, Microphthalmia, Skeleta... OMIM:609049
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Fractures of the l... OMIM:602080
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, Genu valgum, Sm... ORPHA:94068
Increased bone mineral density OMIM:166450
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Epiphyseal Dysplasia, Multiple, 1
Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dysplasia, Generalized joint laxity,... OMIM:132400
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... ORPHA:50811
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Pedal edema, Increased bone mineral density ORPHA:75325
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Platyspondyly, Stiff neck OMIM:616583
Stillbirth OMIM:265880
Dermatoosteolysis, Kirghizian Type
Osteoarthritis, Brachydactyly, Osteolysis, Abnormal foot morphology, Tarsal synostosis, Abnormal ... ORPHA:1657
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Hypoplastic left heart OMIM:236110
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Slender long bone, Abnormal cort... ORPHA:1486
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Flexion c... OMIM:601560
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Broad ischia, Narrow greater sciatic notc... OMIM:609052
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Genu varum, Bowing of the long bones, Coarse metaphyseal trabeculariz... ORPHA:1952
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... OMIM:611497
Proteus Syndrome
Hypertrophy of skin of soles, Splenomegaly, Calvarial hyperostosis, Thin bony cortex, Mandibular ... OMIM:176920
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc coloboma, Microphthalm... OMIM:120200
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Platyspondyly, Scol... OMIM:609223
Classic Hodgkin Lymphoma
Weight loss, Osteolysis, Splenomegaly ORPHA:391
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Recurrent fractures, Hip dislocation, Hip subluxation, Osteoporosis OMIM:256720
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:264700
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly OMIM:271620
Bresek Syndrome
Intrauterine growth retardation, Optic nerve hypoplasia, Hypoplasia of the bladder, Neonatal deat... ORPHA:85284
Hutchinson-Gilford Progeria Syndrome
Generalized osteoporosis, Osteolysis, Micrognathia OMIM:176670
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... OMIM:609655
Winchester Syndrome
Broad metacarpals, Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis OMIM:277950
Brachydactylous Dwarfism, Mseleni Type
Short toe, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality of the ankles, Abn... ORPHA:2619
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... ORPHA:50809
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Osteopenia, Micrognathia, Broad femoral neck, Thin bony cortex, S... ORPHA:85184
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Joubert Syndrome 22
Coloboma, Renal hypoplasia, Microphthalmia, Intrauterine growth retardation, Retinal dysplasia OMIM:615665
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Femoral bowing, Micrognathia, Thin bony cortex, Joint laxity, Bowing of the ... OMIM:617952
Lessel-Kubisch Syndrome
Hypertension, Renal hypoplasia, Renal insufficiency, Short stature OMIM:618681
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Short stature, Renal cortical hyperechogenicity, ... OMIM:611555
Frank-Ter Haar Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Genu recurvatum, Camptodactyly of finger, Brachy... ORPHA:137834
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Osteoporosis, Patho... ORPHA:98850
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... ORPHA:83451
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Osteomyelitis, Neutrophilia, Splenomegaly, Osteopenia, Abscess, Fused cervical verte... OMIM:612852
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Long hallux, Arachnodactyly, Osteopenia, Finger clinodactyly, Broad hallux OMIM:615923
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly ORPHA:93304
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Synostosis ... ORPHA:2098
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... OMIM:614377
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Brachyolmia Type 2
Platyspondyly OMIM:613678
Infantile Myofibromatosis
Abnormal metaphysis morphology, Bone cyst, Osteolysis, Limitation of joint mobility ORPHA:2591
Desmoid Tumor
Osteolysis, Limitation of joint mobility ORPHA:873
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... OMIM:300009
Gnathodiaphyseal Dysplasia
Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ... OMIM:166260
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Hyperechogenic kidneys, Renal hypoplasia, Microphthalmia OMIM:617914
Verheij Syndrome
Abnormal cardiac septum morphology, Short stature, Renal agenesis, Coloboma, Renal cyst, Renal hy... OMIM:615583
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Elevated circulating creatine kinase concentration, Abnormality of the ve... ORPHA:52430
Joint stiffness, Failure to thrive, Increased bone mineral density, Arthritis, Hyperostosis, Lowe... ORPHA:2485
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... OMIM:156530
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus OMIM:228940
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:277440
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly OMIM:184095
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... OMIM:271630
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Cholestatic liver disease, Renal tubular acidosis, Atrial s... OMIM:610205
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Hypoplastic left heart, Short stature, Unilateral renal agenesis, Rhizome... OMIM:617661
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Osteopenia, Increased susceptibility to fractures, Femoral bowing OMIM:615066
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Ureteral agenesis, Renal dysplasia, Hydranencephaly, Renal cyst, Renal hypoplasia... OMIM:236500
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... ORPHA:289176
Papillorenal Syndrome
Absence of renal corticomedullary differentiation, Macular degeneration, Morning glory anomaly, H... OMIM:120330
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal vertebral morphology, Restricted large joint movement, Platyspondyly ORPHA:163665
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin... ORPHA:1159
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism, Renal hypoplasia, Intrauterine growth retardation OMIM:617564
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... OMIM:147891
Greenberg Dysplasia
Abnormal leukocyte morphology, Abnormal bone ossification, Anterior rib punctate calcifications, ... ORPHA:1426
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Platyspondyly, Broad femoral neck... OMIM:609324
Felty Syndrome
Limitation of joint mobility, Splenomegaly, Abnormal lymphocyte morphology, Arthritis, Osteolysis... ORPHA:47612
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Small for gestational age, Short femur, Osteopen... OMIM:616897
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Failure to thrive, Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly... ORPHA:157965
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Gamma-Heavy Chain Disease
Splenomegaly, Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia, Osteolysis, Autoimmune h... ORPHA:100026
Maffucci Syndrome
Recurrent fractures, Osteolysis ORPHA:163634
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Optic atrophy, Thickened glomerular basement membrane, Proteinuria, Pericarditis, I... OMIM:619487
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Flared metaphysis, Platyspondyly, Short middle phalanx of the 2nd finger, ... OMIM:156510
Hypophosphatemic Bone Disease
Bowing of the legs, Osteomalacia, Rickets OMIM:146350
Isolated Osteopoikilosis
Joint stiffness, Abnormality of femur morphology, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Flattened femoral head, Coxa vara, Hump-shaped mound of bone in central and post... ORPHA:99642
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... ORPHA:93314
Hadziselimovic Syndrome
Atrial septal defect, Short stature, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular s... OMIM:612946
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Ketonuria, Hepatomegaly, Hypertrophic cardiomyopathy, Renal hypoplasia, Microphthalmia, Oligohydr... OMIM:619053
Progressive Pseudorheumatoid Dysplasia
Joint stiffness, Coxa vara, Kyphoscoliosis, Joint contracture of the hand, Enlarged metacarpophal... OMIM:208230
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Talipes equinovarus, Craniosynostosis, Increased circulating thyroglobulin level, Osteopenia, Cam... ORPHA:356961
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... OMIM:608154
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Renal tubular acidosis, Hepatomegaly, Renal dysplasia, Renal cyst, Rena... OMIM:614922
Atelosteogenesis Type I
Talipes equinovarus, Abnormal ossification involving the femoral head and neck, Short femur, Micr... ORPHA:1190
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Failure to thrive, Subperiosteal bone re... ORPHA:289157
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Coxa vara, Fibrous dysplasia of the bones, Abnormal morphology o... ORPHA:249
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Short metacarpal, Osteoarthritis, Platyspondyly, Micromelia, Synostosis of carpal bone... ORPHA:93351
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad metacarpals, Osteopenia, Osteolysis involving bones of the lower limbs, Osteoporosis, Arthr... ORPHA:371428
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... OMIM:249700
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Limb undergrowth, Brachydactyly, Micromelia, Massively thickened long bone cortices OMIM:122900
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Osteomyelitis, Splenomegaly, Anemia, Small hand, Osteoporosis, Genu varum, Arthritis, Osteolysis,... ORPHA:2796
Femoral-Facial Syndrome
Vertebral segmentation defect, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, S... ORPHA:1988
Weismann-Netter Syndrome
Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Squared i... OMIM:112350
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Metaphyseal irregularity, Coxa vara, Lumbar hyperlordosis, Narro... OMIM:602557
Duchenne And Becker Muscular Dystrophy
Joint stiffness, Reduced bone mineral density, Elevated circulating creatine kinase concentration... ORPHA:262
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Osteoporosis OMIM:166710
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Delayed epiphyseal ossification, Epiphyseal dysplasia, Fragmented epiphys... ORPHA:166016
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Osteogenesis Imperfecta, Type V
Recurrent fractures, Limited pronation/supination of forearm, Hyperextensibility of the finger jo... OMIM:610967
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Reduced bone mineral density, Interphalangeal joint erosions, Osteopenia, Abnormality of limb bon... ORPHA:85435
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Osteomalacia, Abnormality of the lower limb, Rickets OMIM:193100
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Ventricular septal defect, Polyhydramnios, Renal hypoplasia, Abnormality of ... ORPHA:2256
Secundum atrial septal defect, Renal tubular atrophy, Decreased glomerular filtration rate, Pulmo... ORPHA:2260
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Horseshoe kidney, Hypo... OMIM:601186
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Joint contracture of the 4th finger, Pulmonic stenosis, Small thenar eminence, Joint contracture ... OMIM:618914
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Polycystic kidney dysplasia... OMIM:608776
Aplasia Cutis Congenita
Finger syndactyly, Abnormality of bone mineral density, Toe syndactyly ORPHA:1114
Monosomy 5P
Recurrent fractures, Microretrognathia, Small hand, Abnormality of bone mineral density, Joint hy... ORPHA:281
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Sea-blue histiocytosis, Failure to thrive, Hypoplastic vertebral bodies, Splenom... OMIM:230600
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Coxoauricular Syndrome
Abnormality of femur morphology, Reduced bone mineral density, Micromelia, Abnormal pelvic girdle... ORPHA:1508
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Osteolysis, Ankylosis ORPHA:659
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Pathologic fracture, Abnormal foot morphology, Increased susce... OMIM:146300
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Long finger... OMIM:619489
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Hip contracture, Advanced ossification of carpal bones, Kyphoscoli... OMIM:618363
Gaucher Disease Type 1
Increased bone mineral density, Splenomegaly, Osteopenia, Osteoarthritis, Leukopenia, Pathologic ... ORPHA:77259
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Short stature, Iris coloboma, Abnormal localization of kidney, Hydronep... ORPHA:195
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Micromelia,... ORPHA:2741
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... ORPHA:1505
Even-Plus Syndrome
Atrial septal defect, Severe short stature, Recurrent urinary tract infections, Renal hypoplasia,... OMIM:616854
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Morquio Syndrome C
Platyspondyly OMIM:252300
Atelosteogenesis Type Ii
Broad phalanx, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbel... ORPHA:56304
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Intervertebral space... ORPHA:166011
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal cardiac septum morphology, Renal agenesis, Renal hypoplasia, Hydronephrosis, Cryptorchid... OMIM:618494
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Retinal dystrophy, Iris coloboma, ... ORPHA:231736
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Thin bony cortex, Thin metacarpal cortices, Osteolysis involving tarsal bones, Metaca... OMIM:259600
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Tibial Hemimelia
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... ORPHA:93322
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Ivic Syndrome
Carpal synostosis, Short clavicles, Leukocytosis, Limited interphalangeal movement, Absent thumb,... OMIM:147750
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida... OMIM:307800
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Atrial septal defect, Decreased response to growth hormone stimu... OMIM:609053
Hydrops Fetalis
Miscarriage, Abnormality of the kidney, Abnormality of the urinary system, Nonimmune hydrops feta... ORPHA:1041
Renal Coloboma Syndrome
Retinal coloboma, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Renal... ORPHA:1475
Senior-Boichis Syndrome
Reduced number of intrahepatic bile ducts, Malformation of the hepatic ductal plate, Cholestasis,... ORPHA:84081
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Butterfly vertebrae, Talipes equinovarus, Hypocalcemia, Small for gestational ... OMIM:607143
Bruck Syndrome 1
Hip contracture, Coxa vara, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Osteoporosis... OMIM:259450
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Splenomegaly, Ventricular septal defect, Renal hypoplasia, Hepatic fibro... OMIM:616589
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short distal phalanx of finger, Aplasia/Hypoplasia of the clavicles, Micrognathia, Abnormal finge... ORPHA:90154
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Short long bone, Enlarged metaphyses, Platyspondyly, Irregular femoral epiphysis, Genu... OMIM:618728
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Hyperparathyroidism, Transient Neonatal
Osteopenia, Femoral bowing, Short ribs OMIM:618188
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Aminoaciduria, Flexion contracture, Death in childhood, Camptodactyly, Renal hypopl... OMIM:604273
Dyssegmental Dysplasia With Glaucoma
Hip contracture, Delayed epiphyseal ossification, Wide anterior fontanel, Flared metaphysis, Plat... OMIM:601561
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... OMIM:251450
Thanatophoric Dysplasia Type 1
Joint stiffness, Kyphosis, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia,... ORPHA:1860
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, M... OMIM:267010
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Matthew-Wood Syndrome
Annular pancreas, Intrauterine growth retardation, Congenital diaphragmatic hernia, Aplasia/Hypop... ORPHA:2470
Bardet-Biedl Syndrome 3
Renal hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy, Tricuspid regurgitation OMIM:600151
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis, Platyspondyly OMIM:271600
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... ORPHA:2756
Stuve-Wiedemann Syndrome 1
Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the proximal interphalangea... OMIM:601559
Meckel Syndrome, Type 4
Atrial septal defect, Anencephaly, Ventricular septal defect, Renal cyst, Meningocele, Microphtha... OMIM:611134
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognathia, Short neck... OMIM:251230
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Supernumerary nipple, Chronic tubulointerstitial nephritis, Short stature, Attenuat... OMIM:614376
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Cryptorchidism, Pericardial effusion, Micropenis OMIM:614684
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the finger joints, Plat... OMIM:313420
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bundle bran... OMIM:115197
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Chondroectodermal Dysplasia With Night Blindness
Talipes calcaneovarus, Epiphyseal dysplasia, Metaphyseal irregularity, Metaphyseal dysplasia, Ost... ORPHA:319195
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Multinucleated giant ch... OMIM:108720
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Metaphyseal cupping, Osteopenia, Flared metaphysis, Genu varum OMIM:619073
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Flexion contracture, Aplasia/Hypoplasia of the clavicles, Acroost... ORPHA:90153
Spondylometaphyseal Dysplasia, Kozlowski Type
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Delayed oss... OMIM:184252
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Osteopenia, Osteoporosis, Femoral bowing OMIM:126550
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Hematuria, Glomerulopathy, Angioedema, Proteinuria, Pleural effusion,... ORPHA:36412
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholest... OMIM:617394
Orofaciodigital Syndrome Xvii
Short stature, Renal hypoplasia, Tetralogy of Fallot, Micropenis OMIM:617926
Distal Trisomy 6P
Aplasia/Hypoplasia affecting the eye, Short stature, Abnormality of the urinary system, Renal hyp... ORPHA:1745
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... OMIM:250215
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Short stature, Posterior pituitary hypoplasia, Ventricular septal defect, R... ORPHA:75389
Nestor-Guillermo Progeria Syndrome
Joint stiffness, Failure to thrive, Microretrognathia, Flexion contracture, Micrognathia, Osteopo... OMIM:614008
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... ORPHA:93352
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Bruck Syndrome 2
Talipes equinovarus, Flexion contracture, Osteopenia, Femoral bowing, Elbow flexion contracture, ... OMIM:609220
Spondylosis, Cervical
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis OMIM:184300
Diffuse Cutaneous Systemic Sclerosis
Narrow foramen obturatorium, Osteolysis, Flexion contracture, Arthritis ORPHA:220393
Gombo Syndrome
Microphthalmia, Delayed puberty, Abnormal heart morphology OMIM:233270
Farber Lipogranulomatosis
Failure to thrive, Splenomegaly, Hyperextensibility of the finger joints, Arthritis, Osteolytic d... OMIM:228000
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Micropenis, Renal agenesis, Hypospadias, Renal hypoplasia, Patent ductus arteriosus, Umbilical he... ORPHA:171839
Atelosteogenesis Type Iii
Laryngotracheomalacia, Talipes equinovarus, Absent humerus, Knee dislocation, Distal tapering fem... ORPHA:56305
Split-Hand/Foot Malformation 3
Renal hypoplasia, Camptodactyly OMIM:246560
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Splenomegaly, Fractures of the long bones, Abnormal spleen morph... ORPHA:464329
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Coloboma, Optic atrophy, Microphthalmia, Growth delay OMIM:274270
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Small epiphyses, S... OMIM:184260
Pelviscapular Dysplasia
Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... ORPHA:93333
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Burn-Mckeown Syndrome
Atrial septal defect, Short stature, Unilateral renal agenesis, Ventricular septal defect, Renal ... OMIM:608572
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... ORPHA:83468
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Ventricular septal defect, Cont... OMIM:300166
Emanuel Syndrome
Aortic valve stenosis, Atrial septal defect, Congenital diaphragmatic hernia, Micropenis, Pulmoni... OMIM:609029
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Microphthalmia, Phthisis bulbi, Buphthalmos, Hyaloid vas... ORPHA:91495
Abnormality of the lower limb, Osteolysis, Abnormal foot morphology, Ankylosis ORPHA:182
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... ORPHA:1263
Sapho Syndrome
Recurrent fractures, Osteomyelitis, Arthritis, Osteolysis, Hyperostosis, Enthesitis, Craniofacial... ORPHA:793
Papillon-Lefèvre Syndrome
Arachnodactyly, Palmoplantar hyperkeratosis, Osteolysis, Palmoplantar keratoderma, Liver abscess,... ORPHA:678
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Rickets OMIM:602722
Occipital Horn Syndrome
Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Platyspondyly, ... ORPHA:198
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Failure to thrive, Metaphyseal dysplasia, Kyphosis, Platyspondyly,... OMIM:234250
Vacterl Association With Hydrocephalus
Renal hypoplasia, Stillbirth, Abnormal heart morphology OMIM:276950
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia, Absence of renal corticomedullary differentiation, Micropenis, U... OMIM:617641
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Meckel Syndrome 12
Ureteral hypoplasia, Renal agenesis, Renal hypoplasia, Arthrogryposis multiplex congenita, Oligoh... OMIM:616258
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Coloboma, Renal hypoplasia, Pseudohypoparathyroidism, Vesicoureteral reflux ORPHA:464288
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Coxa vara, Bowing of the legs, Bowing of the arm, Platyspondyly, Osteoporosi... OMIM:619131
Marden-Walker Syndrome
Joint contracture of the hand, Micropenis, Hypospadias, Camptodactyly, Dextrocardia, Renal hypopl... OMIM:248700
Craniofaciofrontodigital Syndrome
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Abnormal cerebr... ORPHA:363705
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... ORPHA:93360
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Decreased body weight, Wide anterior fontanel OMIM:614886
Cach Syndrome
Optic neuritis, Pancreatitis, Flexion contracture, Hepatosplenomegaly, Optic atrophy, Renal hypop... ORPHA:135
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Metaphyseal irregularity, Slender finger, Flared metaphysis, Platy... OMIM:601668
Stüve-Wiedemann Syndrome
Recurrent fractures, Flexion contracture of finger, Talipes equinovarus, Flexion contracture, Ost... ORPHA:3206
Congenital Disorder Of Glycosylation, Type Ia
Nephrotic syndrome, Hepatomegaly, Rod-cone dystrophy, Flexion contracture, Death in childhood, No... OMIM:212065
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Hepatomegaly, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricula... OMIM:619167
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Micrognathia, Metaphyseal widening, Femoral bowing, Brachydactyly, Micromelia, Hypop... ORPHA:440354
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Metaphyseal irregularity, Kyphosis, Beaking of vertebral ... OMIM:607326
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Retic... OMIM:611590
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Short stature, Renal hypoplasia, Prominent superficial veins, Delayed puberty, Growth delay, Cryp... OMIM:616817
Birk-Landau-Perez Syndrome
Intrauterine growth retardation, Stage 3 chronic kidney disease, Limb hypertonia, Hyperechogenic ... OMIM:617595
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Micropenis, Renal agenesis, Encephalocele, Coarctation o... OMIM:264480
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph... OMIM:612350
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Micro... ORPHA:93346
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Osteomalacia, Iron deficiency anemia, Tooth abscess, Rickets ORPHA:89937
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow ... OMIM:608940
Duane-Radial Ray Syndrome
Atrial septal defect, Microphthalmia, Retinal coloboma, Renal agenesis, Pectoralis hypoplasia, Sm... OMIM:607323
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Arthralgia of the hip, Abnormal hand morphology, Upper limb undergrowth, Genu v... ORPHA:93307
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Atrial septal defect, Decreased response to growth hormone stimu... OMIM:603467
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Increased intervertebral space, Short ribs, Metaphyseal widening, Br... OMIM:618961
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Femoral bowing,... OMIM:211350
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology, Femur fracture OMIM:612301
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Renal cyst, Meningocele, Bile duct proliferation, Encephalocele, Int... OMIM:603194
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia OMIM:212780
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Platyspondyly ORPHA:93283
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Osteoarthritis, Platyspo... ORPHA:85198
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Short tibia, Micrognathia, 11 pairs... OMIM:201170
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Clinodactyly of the 5th finger, Aplastic clavicle, Aplasia/hypoplasia of the... ORPHA:2769
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Arthrogryposis multiplex congenita, Edema, Microphthalmia OMIM:616570
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:609813
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Dent Disease
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... ORPHA:1652
Axial Spondylometaphyseal Dysplasia
Osteopenia, Platyspondyly, Upper limb undergrowth, Narrow greater sciatic notch, Short ribs, Scol... ORPHA:168549
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility ORPHA:168555
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Diaphy... OMIM:231095
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Fanconi Renotubular Syndrome 3
Bowing of the legs, Rickets OMIM:615605
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Hydrops... ORPHA:2414
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... ORPHA:93316
Senior-Loken Syndrome
Cone-shaped epiphysis, Abnormality of bone mineral density ORPHA:3156
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, A... OMIM:184100
Camptodactyly Syndrome, Guadalajara, Type Ii
Talipes equinovarus, Osteopenia, Camptodactyly of finger, Micrognathia, Brachydactyly, Short neck... OMIM:211920
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets OMIM:613388
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... OMIM:619924
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Micromelia, Short neck, Platyspondyly, Anterior bowing of long bones,... OMIM:255800
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Os... ORPHA:2771
Andersen-Tawil Syndrome
Renal tubular dysfunction, Torsade de pointes, Abnormal T-wave, Premature ventricular contraction... ORPHA:37553
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly OMIM:608361
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Khan-Khan-Katsanis Syndrome
Intrauterine growth retardation, Tricuspid regurgitation, Flexion contracture, Short stature, Bup... OMIM:618460
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Muscular dystrophy, Retinal deta... OMIM:614643
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Pediatric Systemic Lupus Erythematosus
Dark urine, Nephrotic syndrome, Nephritis, Raynaud phenomenon, Abnormality of the urinary system,... ORPHA:93552
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Joint contracture of the hand, Mild postnatal growth retardation, Thyroid l... OMIM:235510
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... ORPHA:457395
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared femoral metaphysis, Sandal gap, ... ORPHA:1427
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Short ... OMIM:259440
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Meckel Syndrome, Type 5
Anencephaly, Renal cyst, Microphthalmia, Bile duct proliferation, Occipital encephalocele OMIM:611561
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Hematuria, Prolonged QTc interval ORPHA:231111
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Joint stiffness, Tibial bowing, Flexion contracture, Absent ossification of capital femoral epiph... OMIM:245160
Erdheim-Chester Disease
Osteomyelitis, Increased bone mineral density, Osteolysis, Weight loss, Abnormal epiphysis morpho... ORPHA:35687
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Short stature, Left ventricular noncompaction, Pigmentary retinopathy, Optic... OMIM:252011
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal femoral neck/head morphology, Abnormal bone ossification, Wide anterior fontanel, Slende... ORPHA:163649
Mungan Syndrome
Tricuspid regurgitation, Pulmonic stenosis, Renal hypoplasia, Vesicoureteral reflux, Perimembrano... OMIM:611376
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Hematuria, Coloboma OMIM:120433
H Syndrome
Histiocytosis, Recurrent fractures, Hepatosplenomegaly, Camptodactyly, Pes planus, Osteolysis, Mi... ORPHA:168569
Thalidomide Embryopathy
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... ORPHA:3312
Emanuel Syndrome
Multiple joint contractures, Aortic valve stenosis, Atrial septal defect, Congenital diaphragmati... ORPHA:96170
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Platy... OMIM:300863
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis, Short statu... OMIM:617660
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Kyphoscoliosis, Decreased body weight, Increased bone mineral density, Ar... OMIM:614856
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Bladder exstrophy, Cholestasis, Ventric... OMIM:301068
Mixed Connective Tissue Disease
Joint stiffness, Splenomegaly, Leukopenia, Arthritis, Hemolytic anemia, Osteolysis ORPHA:809
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Craniosynostosis, Osteopenia, Femoral bowing, Short neck, Platyspondyly, Short f... OMIM:616723
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Platyspondyly, Osteoporosis ORPHA:71267
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Splenomegaly, Osteopenia, Pathologic fracture, Hemolytic anemia, O... OMIM:263700
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Failure to thrive, Rickets, Splenomegaly OMIM:211600
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Telangiectasia of the skin, Hypoplasia of penis, Short stature, Renal dysplasia, Renal hypoplasia... ORPHA:85321
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Phthisis bulbi, Buphthalmos, Retinal nonattachment, Iris... OMIM:221900
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Failure to thrive, Dislocated radial head, Beaking of vertebral bodies, Talipes equinovarus, Kyph... ORPHA:93359
Joubert Syndrome 6
Retinal degeneration, Nephronophthisis, Hepatic fibrosis, Bile duct proliferation, Stage 5 chroni... OMIM:610688
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion, Abnormality of the peritoneum ORPHA:48686
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Renal hypoplasia, Growth delay, Polyspleni... OMIM:617784
Biemond Syndrome Type 2
Short stature, Hypospadias, Coloboma, Delayed puberty, Microphthalmia ORPHA:141333
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Papilledema, Ventricular septal defect, Bradycardia, Persistent left superior ven... OMIM:618775
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Short stature, Unilateral microphthalmos, Coloboma, Horseshoe kidney, Bila... OMIM:619318
Dworschak-Punetha Neurodevelopmental Syndrome
Unilateral renal hypoplasia, Vesicoureteral reflux, Optic disc hypoplasia, Dilation of Virchow-Ro... OMIM:619955
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Foot oligodactyly, Amelia, Short femur OMIM:601357
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Multicystic kidney dysplasia, Abnormality of the pancreas, Ren... ORPHA:3032
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis OMIM:612847
Renal Tubular Acidosis Iii
Osteomalacia, Rickets OMIM:267200
Cockayne Syndrome Type 3
Hepatomegaly, Retinal degeneration, Stroke, Premature coronary artery atherosclerosis, Subdural h... ORPHA:90324
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Short neck, Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Bowing of the... ORPHA:93267
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Biconcave vertebral bodies, Osteolysis, Bowing of the long bones, Patella... ORPHA:955
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Short stature, Microphthalmia OMIM:257910
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Bowing of the legs, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia, Patholo... ORPHA:157215
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Supernumerary nipple, Congenital diaphragmatic hernia, Short ... OMIM:618454
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Hepatic fib... OMIM:607361
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Unilateral microphthalm... ORPHA:137902
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Coxa vara, Coxa valga, Osteopenia, Micrognathia, Osteomalacia, Osteoporosis, Ava... ORPHA:1901
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Severe limb shortening, Decreased cranial base ossification, Short ribs, Hyp... OMIM:151210
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Tibial bowing, Radial bowing, Kyphosis, Short metacarpal, Wide anterior font... OMIM:610915
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... OMIM:223800
Tessadori-Van Haaften Neurodevelopmental Syndrome 1
Secundum atrial septal defect, Absence of renal corticomedullary differentiation, Hepatic failure... OMIM:619758
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, En... ORPHA:89936
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Patent ductus arteri... OMIM:239850
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Rena... OMIM:266810
Kniest Dysplasia
Hip contracture, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Coronal cleft vertebr... OMIM:156550
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Short stature, Retinal detachment, Microphthalmia, Intra... ORPHA:2714
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular vertebral endplates, Irregular tarsal ossification, Cone-shaped epiphyses of the phalan... OMIM:226980
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Stroke, Hepatic failure, Reduced number of intrahepatic bile d... OMIM:118450
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
Q Fever
Abnormal left ventricular function, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Endocarditis,... ORPHA:781
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Pulmonary edema, Abnormal renal tubular resorption, Hepatic calcification... ORPHA:73224
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Irregular vertebral endplates, Recurrent fractures, Hypoplastic vertebral bodies, Increased bone ... ORPHA:1782
Pallister-Hall Syndrome
Distal urethral duplication, Microphthalmia, Decreased response to growth hormone stimulation tes... OMIM:146510
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... ORPHA:300751
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Hypospadias, Hydrops fetalis, Renal cyst, Polycystic kidney dysplasia, Renal hypop... OMIM:614091
Faciocardiomelic Syndrome
Osteopenia, Micrognathia, Polydactyly, Slender long bone, Thin bony cortex, Large for gestational... OMIM:612731
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Pseudodiastrophic Dysplasia
Platyspondyly, Scoliosis ORPHA:85174
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter, Camptodactyly of finger... ORPHA:2547
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Geroderma Osteodysplastica
Recurrent fractures, Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Bico... ORPHA:2078
Gaucher Disease Type 3
Increased bone mineral density, Splenomegaly, Osteolysis, Increased susceptibility to fractures, ... ORPHA:77261
Trisomy 13
Atrial septal defect, Abnormal retinal vascular morphology, Abnormality of the ureter, Hydrops fe... ORPHA:3378
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Neonatal death, Lacticaciduria... OMIM:619003
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Hematuria, Optic atrophy, Iris coloboma, Microphthalmia, Chorioretinal coloboma ORPHA:1473
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... OMIM:271700
12Q14 Microdeletion Syndrome
Intrauterine growth retardation, Short stature, Abnormality of the spleen, Renal hypoplasia, Hors... ORPHA:94063
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Atrioventricular canal defect, Ventricular septal defect, Hors... ORPHA:508498
Infantile Systemic Hyalinosis
Recurrent fractures, Joint stiffness, Failure to thrive, Osteopenia, Camptodactyly of finger, Ost... ORPHA:2176
Fanconi Anemia, Complementation Group O
Miscarriage, Short stature, Small thenar eminence, Neonatal death, Renal cyst, Death in infancy, ... OMIM:613390
Anauxetic Dysplasia 1
Hip contracture, Short toe, Lumbar hyperlordosis, Delayed ossification of carpal bones, Atlantoax... OMIM:607095
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Talipes equinovarus, Coronal cleft vertebrae, Bifid humerus, Increased inte... OMIM:256050
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Hypertrophy of the urinary bladder, Renal hypoplasia, Renal dysplasia OMIM:601389
Idiopathic Hypercalciuria
Osteopenia, Osteoporosis ORPHA:2197
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Aplastic clavicle, Abnormal epiphysis morphology... ORPHA:3474
Acrorenal Syndrome, Autosomal Recessive
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency OMIM:201310
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Gastrointestinal hemorrhage, Ja... ORPHA:731
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome