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Gene: Notch2 MGI:97364

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

notch 2

Synonyms:

N2, Motch B

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Human diseases associated with Notch2 (3 diseases)
Human diseases predicted to be associated with Notch2 (1293 diseases)

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

Disease	Matching phenotypes	Source
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub...	OMIM:610205
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Decreased skull ossification, Parti...	ORPHA:955
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Kyphoscoliosis, Micrognathia, Absent frontal sinuses, Short neck, Tall ...	OMIM:102500

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

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho...	ORPHA:79106
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	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	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive	OMIM:600121
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Medial Condensing Osteitis Of The Clavicle	Limited shoulder movement, Patchy reduction of bone mineral density	ORPHA:57196
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo...	ORPHA:2790
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Paget Disease Of Bone 4	Osteolysis	OMIM:606263
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail...	OMIM:228600
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Xanthoma Disseminatum	Osteolysis	ORPHA:158003
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Avascular Necrosis Of Femoral Head, Primary, 1	Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis	OMIM:608805
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim...	ORPHA:2204
Autosomal Recessive Distal Osteolysis Syndrome	Osteolysis, Short distal phalanx of finger	ORPHA:2776
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia	ORPHA:100024
Osteosarcoma	Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph...	ORPHA:668
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Juvenile Hyaline Fibromatosis	Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis, Joint stiffness	ORPHA:2028
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of ...	ORPHA:1525
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de...	OMIM:265900
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,...	OMIM:118651
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	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	Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp...	ORPHA:73
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor...	OMIM:619638
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Halberd-s...	ORPHA:2635
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Nephrosialidosis	Renal insufficiency, Bone-marrow foam cells, Pericardial effusion, Nephrotic syndrome, Death in c...	OMIM:256150
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl...	ORPHA:2501
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Micrognathia, Limitation of joint mobility, Osteolysis, Slende...	ORPHA:2774
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ...	OMIM:617974
Osteoarthritis With Mild Chondrodysplasia	Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl...	OMIM:604864
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero...	OMIM:615198
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Ollier Disease	Micromelia, Joint stiffness, Osteolysis, Abnormal metaphysis morphology, Anemia	ORPHA:296
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep...	OMIM:600081
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Ramon Syndrome	Failure to thrive, Osteolysis	ORPHA:3019
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Keratoderma Hereditarium Mutilans	Autoamputation of digits, Osteolysis, Honeycomb palmoplantar hyperkeratosis	ORPHA:494
Ck Syndrome	Micrognathia, Abnormal digit morphology, Abnormal cortical bone morphology, Slender build, Joint ...	OMIM:300831
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Tenosynovial Giant Cell Tumor	Abnormal hip joint morphology, Abnormality of the knee, Joint stiffness, Limitation of joint mobi...	ORPHA:66627
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Grant Syndrome	Bowing of the long bones, Micrognathia, Decreased skull ossification, Joint hyperflexibility, Abn...	ORPHA:2097
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr...	OMIM:602080
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m...	ORPHA:324964
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals	OMIM:269630
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal form of the verteb...	ORPHA:93160
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ...	OMIM:144750
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300554
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Abnorm...	ORPHA:94068
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Pierson Syndrome	Diffuse mesangial sclerosis, Skeletal muscle atrophy, Edema, Hypoplasia of the iris, Death in chi...	OMIM:609049
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca...	OMIM:132400
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Dense metaphyseal bands, Osteopenia, Small for gestational age, Slender long bones with narrow di...	ORPHA:50811
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormal foot morphology, Osteoarthritis, Osteolysis, Abnormal diaphysis morph...	ORPHA:1657
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Reduced bone mineral density, Delayed ossification of carpal bones, Sh...	OMIM:618392
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone, Abnormal hip ...	ORPHA:1486
Holzgreve Syndrome	Hypoplastic left heart, Renal agenesis, Renal hypoplasia	OMIM:236110
Pyknoachondrogenesis	Stillbirth	OMIM:265880
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo...	ORPHA:1952
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B...	OMIM:609052
Bardet-Biedl Syndrome 19	Cone/cone-rod dystrophy, Renal insufficiency, Ventricular septal defect, Partial atrioventricular...	OMIM:615996
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Hypertrophy of skin of soles, Calvarial hyperostosis, Faci...	OMIM:176920
Classic Hodgkin Lymphoma	Splenomegaly, Osteolysis, Weight loss	ORPHA:391
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep...	OMIM:241530
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Irregular vertebral endplates, Platyspondyly, Thor...	OMIM:609223
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Winchester Syndrome	Osteolysis involving tarsal bones, Generalized osteoporosis, Broad metacarpals, Carpal osteolysis	OMIM:277950
Hutchinson-Gilford Progeria Syndrome	Osteolysis, Generalized osteoporosis, Micrognathia	OMIM:176670
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	ORPHA:50809
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Joint hypermobility, Recurrent fractures, Micrognathia, F...	OMIM:617952
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Joint stiffness, Osteolysis, Abnormal metacarpal morpho...	ORPHA:137834
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog...	OMIM:611555
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Polycystic kidney dys...	OMIM:613885
Joubert Syndrome 22	Renal hypoplasia, Coloboma, Retinal dysplasia, Microphthalmia, Intrauterine growth retardation	OMIM:615665
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple...	ORPHA:98850
Lessel-Kubisch Syndrome	Hypertension, Renal insufficiency, Short stature, Renal hypoplasia	OMIM:618681
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Bresek Syndrome	Decreased testicular size, Hypoplasia of the bladder, Renal dysplasia, Optic nerve hypoplasia, Cr...	ORPHA:85284
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Failure to thrive in infancy, Splenomegaly, Per...	OMIM:612852
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Kyphoscoliosis	ORPHA:93304
Infantile Myofibromatosis	Abnormal metaphysis morphology, Bone cyst, Osteolysis, Limitation of joint mobility	ORPHA:2591
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein con...	ORPHA:1159
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Death in infancy, Polyhydramnios, Renal hypoplasia, Renal cyst...	OMIM:614922
Desmoid Tumor	Limitation of joint mobility, Osteolysis	ORPHA:873
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Hyperlordosis, Osteolysis, Increased suscepti...	ORPHA:52430
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebr...	OMIM:616583
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300009
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:264700
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint...	ORPHA:2619
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:277440
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly	OMIM:184095
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,...	OMIM:620076
Meier-Gorlin Syndrome 8	Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Intrauterine growth retardation	OMIM:617564
Melorheostosis	Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Hyperostosis, Arthritis, E...	ORPHA:2485
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica...	OMIM:271630
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micrognathia, Hip dislocation, C...	ORPHA:2484
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures	OMIM:615066
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub...	OMIM:610205
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Short stature, Rhizomelia, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney di...	OMIM:617661
Papillorenal Syndrome	Edema, Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Sho...	OMIM:120330
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly...	ORPHA:100026
Greenberg Dysplasia	Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi...	ORPHA:1426
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,...	OMIM:616897
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy...	ORPHA:157965
Slc35A2-Cdg	Osteopenia, Failure to thrive in infancy, Camptodactyly of finger, Craniosynostosis, Coxa valga, ...	ORPHA:356961
Maffucci Syndrome	Recurrent fractures, Osteolysis	ORPHA:163634
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal vertebral morphology, Restricted large joint movement	ORPHA:163665
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Proximal f...	OMIM:609324
Felty Syndrome	Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Weight loss, Anemia, Arthritis...	ORPHA:47612
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertrophic cardiomyopathy, Oligohydr...	OMIM:619053
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Abnormal hand morphology, Osteolysis involving bones of the upper limbs, Osteoporosis...	ORPHA:371428
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Abnormality of the knee, Broad radial metaphysis, Abnormal intervertebral disk m...	ORPHA:99642
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo...	ORPHA:249
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures...	OMIM:156510
Aicardi-Goutieres Syndrome 9	Edema, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Perica...	OMIM:619487
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna...	OMIM:613848
Hypercholanemia, Familial 1	Failure to thrive, Rickets	OMIM:607748
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ...	ORPHA:93351
Microphthalmia, Syndromic 9	Anophthalmia, Congenital diaphragmatic hernia, Pulmonary artery atresia, Neonatal death, Atrial s...	OMIM:601186
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Short stature, Renal hypoplasia, Atrial septa...	OMIM:612946
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Failure to thrive, Small for gestational age, Genu valgum, Slender long bones with na...	OMIM:608154
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Verheij Syndrome	Branchial cyst, Renal agenesis, Optic nerve hypoplasia, Ventricular septal defect, Short stature,...	OMIM:615583
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ...	ORPHA:289157
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr...	ORPHA:1856
Pachydermoperiostosis	Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, ...	ORPHA:2796
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy...	OMIM:112350
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
Femoral-Facial Syndrome	Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal fibula morphology, Coxa vara, Abn...	ORPHA:1988
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Osteoporosis	Osteoporosis	OMIM:166710
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Malformation of t...	OMIM:208540
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Art...	OMIM:236500
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Optic disc pallor, Death in infancy, Ventricular septal defect, Ectopic kidney, Cry...	OMIM:613730
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology...	OMIM:608776
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Abnormality of the lower limb, Rickets, Osteomalacia	OMIM:193100
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Increased nuchal translucen...	OMIM:618494
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Spleno...	ORPHA:77259
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susceptibility to...	OMIM:146300
Monosomy 5P	Microretrognathia, Finger syndactyly, Recurrent fractures, Small hand, Joint hyperflexibility, Ab...	ORPHA:281
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Renal hypoplasia, Small thenar eminence, Umbilical hernia, Joint contracture of th...	OMIM:618914
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,...	ORPHA:85435
Even-Plus Syndrome	Atrial septal defect, Recurrent urinary tract infections, Severe short stature, Renal hypoplasia,...	OMIM:616854
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of...	OMIM:609616
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Hydrops Fetalis	Miscarriage, Abnormality of the kidney, Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmu...	ORPHA:1041
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density	ORPHA:1114
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Reduced bone mine...	OMIM:619489
Oligomeganephronia	Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag...	ORPHA:2260
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi...	ORPHA:2741
Cat-Eye Syndrome	Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Chorioretinal coloboma,...	ORPHA:195
Isolated Atp Synthase Deficiency	Hepatomegaly, Short stature, Dilated cardiomyopathy, Optic atrophy, Renal hypoplasia, 3-Methylglu...	ORPHA:254913
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Ankylosis, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Osteolysis	ORPHA:659
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ...	ORPHA:166011
Morquio Syndrome C	Platyspondyly	OMIM:252300
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris...	OMIM:259600
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of penis, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Abnormal mesenter...	ORPHA:2256
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Splenomegaly, Hypoplastic vertebral bodies, Sea-blue histiocytosis, ...	OMIM:230600
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Short phalanx of ...	ORPHA:56304
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs	ORPHA:882
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo...	OMIM:115197
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal...	ORPHA:84081
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Vertebral wedging, Plat...	OMIM:610967
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Cach Syndrome	Flexion contracture, Optic atrophy, Renal hypoplasia, Hepatosplenomegaly, Growth delay, Optic neu...	ORPHA:135
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Osteolysis, Ost...	ORPHA:90154
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Optic atrophy, Pleural effusion, Bradycardia, Intrauterine gr...	OMIM:614702
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo...	OMIM:616589
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Decreased response to gr...	OMIM:609053
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ...	OMIM:251450
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis, Platyspondyly	OMIM:271600
Renal Hypoplasia, Bilateral	Proteinuria, Short stature, Edema, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Rena...	ORPHA:97362
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia	OMIM:600151
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid ...	OMIM:184250
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Equinovarus def...	ORPHA:319195
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Flexion contracture, Limitation of joint mobility, Osteolysi...	ORPHA:90153
Stuve-Wiedemann Syndrome 1	Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, S...	OMIM:601559
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylgluta...	OMIM:604273
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Renal cyst, Bile duct prolife...	OMIM:611134
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Limited elbow movement, Joint stiffness, Micrognathia, Flexion contracture, Os...	OMIM:614008
Matthew-Wood Syndrome	Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplas...	ORPHA:2470
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Short neck, Kyphoscoliosis, Abnormal foot morphology, Hypopl...	OMIM:184252
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum	OMIM:619073
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger...	OMIM:313420
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion, Cryptorchidism, Micropenis	OMIM:614684
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S...	OMIM:267010
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia...	OMIM:108720
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short stature, Rhizomelia, S...	OMIM:614376
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Hip dislocation, Ob...	OMIM:618395
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Abnormal heart valve morphology, ...	ORPHA:36412
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing	OMIM:126550
Diffuse Cutaneous Systemic Sclerosis	Narrow foramen obturatorium, Arthritis, Flexion contracture, Osteolysis	ORPHA:220393
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Orofaciodigital Syndrome Xvii	Micropenis, Tetralogy of Fallot, Short stature, Renal hypoplasia	OMIM:617926
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agene...	OMIM:617914
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met...	OMIM:184260
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Distal Duplication 6P	Short stature, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardati...	ORPHA:1745
Spondylosis, Cervical	Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis	OMIM:184300
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Short stature, Pulmonary artery stenosis, Abnormality of the anterior ...	ORPHA:75389
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bowing, Subperiosteal bo...	OMIM:618188
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,...	ORPHA:464329
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Splenomegaly, Os...	OMIM:228000
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Growth delay, Coloboma, Uraciluria, Microphthalmia	OMIM:274270
Atelosteogenesis Type Iii	Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b...	ORPHA:56305
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Chromomycosis	Ankylosis, Abnormality of the lower limb, Osteolysis, Abnormal foot morphology	ORPHA:182
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Patho...	ORPHA:83468
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol...	OMIM:234250
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Death in infancy, Short stature, Urinary incontinence, Polyhydramnios, Pericardial effusion, Mult...	OMIM:620070
Gombo Syndrome	Microphthalmia, Delayed puberty, Abnormal heart morphology	OMIM:233270
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity	OMIM:618406
Split-Hand/Foot Malformation 3	Renal hypoplasia, Camptodactyly	OMIM:246560
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal agenesis, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Umbilica...	ORPHA:171839
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy, Pericardial effusion, Optic atrophy, Opto-chiasmatic atrophy, Elevated u...	OMIM:620089
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Burn-Mckeown Syndrome	Short stature, Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Atrial sep...	OMIM:608572
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Death in infancy, Remnants of the hyaloid vascular system, Opt...	OMIM:614643
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume...	ORPHA:93333
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Optic disc pallor, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dy...	OMIM:619167
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Facial hypotonia, Optic atrophy, Renal hypop...	OMIM:617595
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Craniosynostosis, Micrognathia, Humeroradial synostosis,...	OMIM:251230
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Rickets	OMIM:602722
Vacterl Association With Hydrocephalus	Stillbirth, Renal hypoplasia, Abnormal heart morphology	OMIM:276950
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Short humerus, Short femur, Rhizomelia, Sandal gap, Small for ge...	OMIM:607143
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Osteogenesis Imperfecta, Type Xxi	Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Platysp...	OMIM:619131
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide anterior fontanel, Abnormal cortical bone morphology, Decreased body weight	OMIM:614886
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Arachnodactyly, Osteolysis, Palmoplantar hy...	ORPHA:678
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler...	ORPHA:793
Microphthalmia, Syndromic 2	Anophthalmia, Flexion contracture, Atrial septal defect, Contracture of the proximal interphalang...	OMIM:300166
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat...	OMIM:271650
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Emanuel Syndrome	Recurrent urinary tract infections, Torticollis, Truncus arteriosus, Ventricular septal defect, U...	OMIM:609029
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Coxa...	OMIM:608940
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b...	ORPHA:93346
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Short metacarpal, Pes planus, Camptodactyly of finger, Kyphoscoliosis, ...	OMIM:612350
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Cryptorchidism, Pseudohypoparathyroidism, Renal hypoplasia, Coloboma, Vesicoureteral reflux	ORPHA:464288
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Death in infancy, Proteinuria, Nonimmu...	OMIM:212065
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Abnormal cerebral vascular morphology...	ORPHA:363705
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod...	ORPHA:3206
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Patent ductus arteriosus, Supravalvar pulmonary stenosis...	OMIM:620185
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C...	ORPHA:2414
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Marden-Walker Syndrome	Decreased muscle mass, Hypospadias, Dextrocardia, Postnatal growth retardation, Cryptorchidism, R...	OMIM:248700
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Duane-Radial Ray Syndrome	Renal malrotation, Atrial septal defect, Upper limb muscle hypoplasia, Optic disc hypoplasia, Ren...	OMIM:607323
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Tooth abscess	ORPHA:89937
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa...	OMIM:618961
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Platyspondyly	ORPHA:93283
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Dysspondyloenchondromatosis	Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula m...	ORPHA:85198
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Prominent superficial veins, Short stature, Cryptorchidism, Renal hypoplasia, Growth delay, Delay...	OMIM:616817
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Renal cyst, Bile duct proliferation, Microphthalmia, Int...	OMIM:603194
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon...	ORPHA:2771
Pseudotrisomy 13 Syndrome	Encephalocele, Renal agenesis, Ventricular septal defect, Dextrocardia, Cryptorchidism, Complete ...	OMIM:264480
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr...	ORPHA:2769
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractur...	ORPHA:1652
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Micromelia, Bowin...	OMIM:255800
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Arthritis, ...	OMIM:184100
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Fanconi Anemia, Complementation Group F	Atrial septal defect, Short stature, Decreased response to growth hormone stimulation test, Polyh...	OMIM:603467
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Wide anterior fontanel, Fibular hypoplasia, Tali...	OMIM:201170
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla...	OMIM:259440
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility	ORPHA:168555
Senior-Loken Syndrome	Cone-shaped epiphysis, Abnormality of bone mineral density	ORPHA:3156
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Ectopic kidney, Lymphedema, Periorbital edema, Atrial septal d...	OMIM:235510
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor...	OMIM:605274
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly	OMIM:608361
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Micrognathia, Wide anterior f...	ORPHA:163649
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Renal hypoplasia, Pulmonic stenosis, Ectopic kidney	OMIM:212780
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Edema, Pericardial effusion, Raynaud phen...	ORPHA:93552
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, Abnor...	ORPHA:93315
Andersen-Tawil Syndrome	Prolonged QT interval, Short stature, Bidirectional ventricular ectopy, Polymorphic ventricular t...	ORPHA:37553
Meckel Syndrome 12	Ureteral hypoplasia, Renal hypoplasia, Bilateral renal agenesis, Intrauterine growth retardation,...	OMIM:616258
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Weight loss, Abnormal epiphysis morpho...	ORPHA:35687
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis	OMIM:612301
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Short stature, Dilated cardiomyopathy, Optic atrophy, Flexion contracture, Ragged-red muscle fibe...	OMIM:252011
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Cone-shaped epiphysis, Platyspondyly, Osteoporosis	ORPHA:71267
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Renal cyst, Bile duct proliferation, Microphthalmia	OMIM:611561
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Diarrhea 10, Protein-Losing Enteropathy Type	Death in infancy, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidism, Hematochezia, C...	OMIM:618183
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
H Syndrome	Hallux valgus, Pes planus, Recurrent fractures, Microcytic anemia, Osteolysis, Hepatosplenomegaly...	ORPHA:168569
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Splenomegaly, Failure to thrive, Rickets	OMIM:211600
Primary Effusion Lymphoma	Abnormal peritoneum morphology, Pleural effusion, Pericardial effusion	ORPHA:48686
Mixed Connective Tissue Disease	Hemolytic anemia, Joint stiffness, Splenomegaly, Osteolysis, Leukopenia, Arthritis	ORPHA:809
Drug-Induced Lupus Erythematosus	Hematuria, Pericardial effusion, Prolonged QTc interval, Pericarditis	ORPHA:231111
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m...	OMIM:300863
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Polyhydramnios, Abnormality of the pancreas, Abnormal liver parench...	ORPHA:3032
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis	OMIM:612847
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Mungan Syndrome	Tricuspid regurgitation, Renal hypoplasia, Perimembranous ventricular septal defect, Pulmonic ste...	OMIM:611376
Joubert Syndrome 6	Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Chor...	OMIM:610688
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Coxa vara, Short femoral n...	ORPHA:2848
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Micrognathia, Short neck, Plat...	ORPHA:93267
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Renal hypoplasi...	OMIM:619758
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Dilation of Virchow-Robin spaces, Optic disc hypoplasia, Unilateral renal ...	OMIM:619955
Emanuel Syndrome	Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Unilateral renal agen...	ORPHA:96170
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O...	OMIM:608728
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Atrial septal defect, Short stature, Renal hypoplasia, Spinal dysraphism, Aortic valve stenosis, ...	OMIM:617660
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Micrognathia, Coxa valga, Avascular necrosis of the ca...	ORPHA:1901
Biemond Syndrome Type 2	Hypospadias, Short stature, Coloboma, Delayed puberty, Microphthalmia	ORPHA:141333
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia	OMIM:620366
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Brady...	OMIM:618775
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ...	OMIM:166600
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Retinal nonattachment, Buphthal...	OMIM:221900
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Renal hypoplasia, Growth delay, Polyspleni...	OMIM:617784
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Decreased skull ossification, Parti...	ORPHA:955
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Occipital encephalocele, Malformation of the hepatic ...	OMIM:607361
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo...	OMIM:223800
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypoplasia of penis, Renal insufficiency, Short stature, Telangiectasia of the skin, Cryptorchidi...	ORPHA:85321
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed epiphyseal ossificati...	OMIM:156550
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Scoliosis, Short femur, Foot oligodactyly, Amelia	OMIM:601357
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Neutropeni...	OMIM:271510
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ...	OMIM:616723
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Mild postnatal growth retardation, Flexion contracture, Retinal degenera...	ORPHA:90324
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Phakomatosis Pigmentokeratotica	Spina bifida, Lymphedema, Raynaud phenomenon, Cryptorchidism, Rhabdomyosarcoma, Renal transitiona...	ORPHA:2874
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Short stature	OMIM:257910
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal...	ORPHA:1427
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Geroderma Osteodysplastica	Beaking of vertebral bodies, Pes planus, Recurrent fractures, Talipes, Hip dislocation, Osteoporo...	ORPHA:2078
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Short stature, Bilateral microphthalmos, Unilateral microphthalmos, Horses...	OMIM:619318
Pallister-Hall Syndrome	Thyroid dysgenesis, Renal dysplasia, Hydroureter, Ventricular septal defect, Decreased response t...	OMIM:146510
Alagille Syndrome 1	Multiple small medullary renal cysts, Atrial septal defect, Vesicoureteral reflux, Chorioretinal ...	OMIM:118450
Pseudodiastrophic Dysplasia	Platyspondyly, Scoliosis	ORPHA:85174
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Arthrogryposis multiplex congenita, Edema, Intrauterine growth retardation	OMIM:616570
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder	OMIM:601389
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Cantu Syndrome	Bicuspid aortic valve, Lymphedema, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, ...	OMIM:239850
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Short stature, Renal hypoplasia, Renal cyst, Hydrops fetalis, Hepatic fibrosis, Poly...	OMIM:614091
Smith-Mccort Dysplasia 2	Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Br...	OMIM:615222
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f...	ORPHA:73224
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Short stature, Microphthalmia, Intra...	ORPHA:2714
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Sever...	OMIM:266810
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric...	ORPHA:781
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Large for gestational age, Slender long bone, Polydactyly, Hypoplastic ...	OMIM:612731
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte...	ORPHA:1782
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increa...	OMIM:256050
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria, Cardiomyopathy...	OMIM:619003
Anauxetic Dysplasia 1	Joint laxity, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic ilia, Sh...	OMIM:607095
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h...	OMIM:615220
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ...	ORPHA:3474
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Short stature, Ectopic kidney, Abnormality of the spleen, Renal hypoplas...	ORPHA:94063
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Polyhydramnios, Abnormality of the upp...	ORPHA:2547
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Rhizomelia, Small for...	OMIM:616229
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Micromel...	ORPHA:2176
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ...	ORPHA:464321
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Sh...	OMIM:618460
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Optic atrophy, Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:1473
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ...	ORPHA:77261
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of...	OMIM:263700
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv...	ORPHA:88630
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Coloboma, Abnormal optic disc morphology, Atrioventricular canal defect, P...	ORPHA:508498
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Osteoporosis, Rickets	OMIM:560000
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Short neck, Cranial hy...	ORPHA:309282
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Senior-Loken Syndrome 9	Osteopenia, Polydactyly, Hypoplasia of the femoral head, Obesity	OMIM:616629
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly, Joint stiffness	ORPHA:1345
Trisomy 13	Anophthalmia, Ventricular septal defect, Abnormal retinal vascular morphology, Cryptorchidism, Pa...	ORPHA:3378
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Splenomegaly, Patent ductus arter...	OMIM:269860
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol...	ORPHA:2658
Spondyloocular Syndrome	Osteopenia, Long toe, Pes planus, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, ...	OMIM:605822
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract...	OMIM:231070
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra...	OMIM:224300
Seckel Syndrome 2	Hypospadias, Short stature, Ectopic kidney, Heart murmur, Growth delay, Microphthalmia	OMIM:606744
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Kyphoscoliosis, Coxa valga, Decreased ...	OMIM:617425
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte...	OMIM:270100
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Aplasi...	ORPHA:221016
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria...	OMIM:208500
Short Stature, Microcephaly, And Endocrine Dysfunction	Short stature, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Dilated cardiomyopathy,...	OMIM:616541
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Acromelic Frontonasal Dysostosis	Encephalocele, Dilation of Virchow-Robin spaces, Remnants of the hyaloid vascular system, Optic n...	OMIM:603671
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen...	OMIM:618280
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Metaph...	ORPHA:221008
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac...	OMIM:259420
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Short stature, Cryptorchidism, Stage 5 chronic kidney disease, Ren...	OMIM:613390
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Familial Dysautonomia	Recurrent fractures, Osteolysis	ORPHA:1764
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, J...	ORPHA:858
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t...	ORPHA:2710
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Kyphosis, Bone cyst, Flexion contracture, Osteolysis, Abnormal form of the verte...	ORPHA:3042
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Plantar hyperkeratosis, ...	ORPHA:2909
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Bilateral renal hypoplasia, Hydronephrosis, Myopathy, S...	OMIM:243605
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Short stature, Cryptorchidism, Renal hypoplasia	ORPHA:1307
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior font...	OMIM:620099
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b...	OMIM:151210
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular sept...	ORPHA:84064
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Na...	OMIM:602271
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ...	OMIM:620306
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Alkuraya-Kucinskas Syndrome	Edema, Pericardial effusion, Micropenis, Webbed neck, Arthrogryposis multiplex congenita, Pleural...	OMIM:617822
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,...	ORPHA:2924
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Psoriasiform dermatitis, Dysuria, Renovascular hypertension, Renal tubular e...	ORPHA:49041
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria...	OMIM:619534
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of the legs, Craniosynostosis, V...	OMIM:241500
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla...	ORPHA:485
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Short stature, Supernumerary nipple, Congenital diaphragmatic hernia, ...	OMIM:618454
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Rickets, Osteomalacia	OMIM:613388
Congenital Enterovirus Infection	Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hepatitis, Cholestasis, Hydrops...	ORPHA:292
Rauch-Steindl Syndrome	Hepatomegaly, Miscarriage, Short stature, Postnatal growth retardation, Bilateral renal hypoplasi...	OMIM:619695
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Short neck, Hypoplastic iliac wi...	OMIM:611717
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Choroidal neovascularization, Edema, Cardiomegaly, Polyhy...	ORPHA:51608
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Adams-Oliver Syndrome 4	Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect, Micr...	OMIM:615297
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma	OMIM:251505
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl...	OMIM:313400
Cat Eye Syndrome	Atrial septal defect, Renal agenesis, Ventricular septal defect, Short stature, Patent ductus art...	OMIM:115470
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Absent oss...	OMIM:166210
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy...	ORPHA:358
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla...	OMIM:615349
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Splenomegal...	ORPHA:3035
Incontinentia Pigmenti	Finger syndactyly, Eosinophilia, Camptodactyly of finger, Abnormal hand morphology, Osteolysis, A...	ORPHA:464
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Short neck, Wide anterior fontanel, Preaxial polydactyly, Hy...	OMIM:617925
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Cofs Syndrome	Abnormality of retinal pigmentation, Death in infancy, Short stature, Camptodactyly of finger, Op...	ORPHA:1466
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preax...	OMIM:210710
Dental Anomalies And Short Stature	Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di...	OMIM:601216
Alg9-Cdg	Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology...	ORPHA:79328
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Mucopolysaccharidosis Type 4	Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Spinal canal stenosis,...	ORPHA:582
Bile Acid Synthesis Defect, Congenital, 1	Splenomegaly, Failure to thrive, Rickets	OMIM:607765
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process	ORPHA:85172
Mucopolysaccharidosis, Type Iva	Joint laxity, Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Hypopl...	OMIM:253000
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypopla...	OMIM:615524
Meckel Syndrome, Type 6	Absent gallbladder, Occipital encephalocele, Anencephaly, Renal cyst, Horseshoe kidney, Cystic li...	OMIM:612284
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Growth delay, Aminoa...	OMIM:617913
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Cerebrofacioarticular Syndrome	Hypospadias, Short stature, Lymphedema, Renal hypoplasia, Abnormal heart morphology, Pulmonic ste...	ORPHA:314679
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Chorioretinal hyperpigmentation, Optic atrophy, 3-Methylglutaconic...	OMIM:618329
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Attrv30M Amyloidosis	Cardiomegaly, Vitreous floaters, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia,...	ORPHA:85447
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Down-sloping shoulders, Joint stiffness, Micrognathia, Coxa valga, Flexion contractur...	OMIM:248370
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Ventricular sept...	ORPHA:26793
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral re...	OMIM:137920
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C...	OMIM:264180
Chikungunya	Joint stiffness, Periostitis, Ankle joint effusion, Osteolysis, Synovitis, Enthesitis, Pedal edem...	ORPHA:324625
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Short stature, Camptodactyly of finger, Cryptorch...	ORPHA:3138
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad metacarpals, Broad metatars...	OMIM:277600
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia, Spinal dysraphism, Webbed neck, Nephroblastoma, Venous malformation	OMIM:612918
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ...	ORPHA:536467
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Ventricular septal defect, Postnatal growth retardation, Cryptorchidism, Optic atrop...	ORPHA:494344
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa...	ORPHA:99827
Meckel Syndrome, Type 1	Occipital encephalocele, Asplenia, Iris coloboma, Accessory spleen, Malformation of the hepatic d...	OMIM:249000
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Premature osteoarthritis	OMIM:184840
Desbuquois Dysplasia 2	Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Joint la...	OMIM:615777
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia	ORPHA:95159
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Edema, Pericardial effusion, Splenomegaly, Hematemesis, Vasculitis, Hepatitis, Hema...	OMIM:615846
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral density, Bowing ...	OMIM:166220
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy...	OMIM:607598
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Generalized joint la...	ORPHA:536471
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i...	OMIM:269250
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Short stature, Macular atrophy, Optic atrophy, Microphthalmia, Retinopathy, In...	OMIM:616171
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Patent duct...	OMIM:620005
Gaucher Disease	Osteopenia, Increased bone mineral density, Pancytopenia, Osteomyelitis, Recurrent fractures, Joi...	ORPHA:355
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Hip dislocation, Osteoporosis, ...	OMIM:616507
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Large for gestational age, Micrognathia, Short neck, Flexion contracture, Hemivertebrae, Tibial b...	ORPHA:96334
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of t...	OMIM:608612
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Lymphedema, Retinal hamartom...	ORPHA:538
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Osteolysis	ORPHA:2396
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of...	ORPHA:239
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Small for gestational age, Micromelia, Short neck, Wide distal femoral met...	OMIM:613320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Facial palsy, Flexion contracture, Abnormal left ventricular function, Cardiom...	OMIM:613155
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Joint hypermobility, Thoracolumbar kyphoscoliosis,...	OMIM:618853
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Congestiv...	ORPHA:615
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubular bones, Joint ...	OMIM:253010
Frank-Ter Haar Syndrome	Osteopenia, Short palm, Bowing of the long bones, Micrognathia, Metatarsus adductus, Wide anterio...	OMIM:249420
Odontochondrodysplasia	Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibility, ...	ORPHA:166272
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull...	OMIM:619727
Coccidioidomycosis	Osteomyelitis, Abscess, Eosinophilia, Abnormality of the spleen, Osteolysis, Abnormal long bone m...	ORPHA:228123
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Talipes...	OMIM:309583
Cryptococcosis	Lymphoid leukemia, Osteolysis, Osteomyelitis	ORPHA:1546
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ...	OMIM:258315
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl...	OMIM:166200
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten...	OMIM:618652
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Knee flexion contracture, Hip contracture, Ankle flexion contracture, Reduced bone mineral density	OMIM:620232
Hennekam Syndrome	Mild postnatal growth retardation, Camptodactyly of finger, Lymphedema, Pericardial effusion, Spl...	ORPHA:2136
22Q11.2 Deletion Syndrome	Polyhydramnios, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal defect, ...	ORPHA:567
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ventricular septal defect, Ectopic kidney, Short stature, Cryptorchidis...	OMIM:122470
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Occipital encephalocele, Encephal...	OMIM:216360
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Morning glory anomaly, Meningocele, Optic atrophy, Rena...	OMIM:614424
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short palm, Decreased sk...	OMIM:244460
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys...	ORPHA:79277
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Retinal hamartoma, Myelopathy, Epiretinal ...	ORPHA:637
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Cockayne Syndrome	Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Retinal arteriolar constri...	ORPHA:191
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies...	OMIM:242900
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestina...	ORPHA:90362
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Short stature, Sple...	ORPHA:290
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Micrognathia, Genu valgum, Joint hyperflexibility, Irregular vertebral endp...	ORPHA:250984
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Mulibrey Nanism	Absent frontal sinuses, Hypoplastic frontal sinuses, Thickened cortex of long bones	OMIM:253250
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropath...	OMIM:617056
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:616428
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Postaxial polydactyly, Micrognathia, Missing ribs, Ulnar bowing, Preax...	OMIM:617866
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Optic disc pallor, Short stature, Congenital diaphragmatic hernia, Pulmo...	OMIM:300887
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelast...	OMIM:619313
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Metaphyseal widening, Abnormal form of the vertebral bodies, Triangular shaped dist...	ORPHA:73230
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Small for gestational age, Thickened cortex of long bones, Anemia...	OMIM:127000
2Q24 Microdeletion Syndrome	Microphthalmia, Coloboma, Growth delay, Camptodactyly of finger	ORPHA:1617
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Short stature, Postnatal growth retardation, Cryptorchidism, Patent ductus...	OMIM:243310
Congenital Myopathy 17	Polyhydramnios, Renal hypoplasia, Myopathy, Distal arthrogryposis, Diaphragmatic eventration, Ure...	OMIM:618975
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Postnatal growth retardation, Cryptorchidism, Heart murmur, Multiple bladder diverti...	ORPHA:2728
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Joint laxity, Arachnodactyly, Coxa valga, Metaphyseal widening, Hip dislocation, Hand...	OMIM:620083
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Short stature, Cholangitis, Pol...	OMIM:613610
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ...	ORPHA:140
Senior-Loken Syndrome 8	Global glomerulosclerosis, Retinal dystrophy, Macular atrophy, Glomerular subepithelial immune-co...	OMIM:616307
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Growth delay, Webbed neck, Microphthalmia, Micropeni...	OMIM:614083
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax...	ORPHA:93357
Microphthalmia, Isolated 4	Microphthalmia, Coloboma, Absent testis	OMIM:613094
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Palpebral edema, Short stature, Unilateral renal agenesis, Cardiac myxoma, C...	OMIM:181270
Mosaic Trisomy 9	Hypoplasia of penis, Polyhydramnios, Asplenia, Hydrops fetalis, Endocardial fibroelastosis, Atria...	ORPHA:99776
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Recurrent fr...	OMIM:239000
Congenital Fibrinogen Deficiency	Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Left ventricular hyp...	ORPHA:335
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ...	OMIM:215140
Kapur-Toriello Syndrome	Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Abn...	OMIM:244300
Cerebrooculofacioskeletal Syndrome 2	Camptodactyly of finger, Growth delay, Death in childhood, Microphthalmia, Micropenis, Intrauteri...	OMIM:610756
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Flexion contracture...	OMIM:215150
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ...	ORPHA:1517
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Polyhydramnios, Fetal ascites...	OMIM:261515
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Metaphyseal widening, Craniofac...	OMIM:618476
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bones, Broad f...	ORPHA:488434
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Large for gestational age	OMIM:616026
Mosaic Variegated Aneuploidy Syndrome	Acute lymphoblastic leukemia, Clinodactyly of the 5th finger, Osteolysis, Micrognathia	ORPHA:1052
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Weill-Marchesani Syndrome 2	Short metacarpal, Joint stiffness, Broad metatarsal, Elbow flexion contracture, Short metatarsal,...	OMIM:608328
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Refsum Disease	Abnormality of retinal pigmentation, Renal insufficiency, Skeletal muscle atrophy, Heart block, S...	ORPHA:773
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Failure to thrive, Rickets	ORPHA:2088
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Short stature	OMIM:602342
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Renpenning Syndrome 1	Hypospadias, Ventricular septal defect, Short stature, Phimosis, Situs inversus totalis, Renal hy...	OMIM:309500
Osteogenesis Imperfecta	Osteopenia, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abnormal tibia morphol...	ORPHA:666
Cystinosis	Failure to thrive, Rickets	ORPHA:213
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent...	ORPHA:77298
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Aminoaciduria, Elevated he...	OMIM:619991
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Short stature, Edema, Stage 5 chronic kidney disease, C...	OMIM:617729
Gracile Bone Dysplasia	Death in infancy, Short stature, Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic sple...	OMIM:602361
Stickler Syndrome Type 1	Joint hyperflexibility, Osteoarthritis, Abnormal vertebral epiphysis morphology, Platyspondyly	ORPHA:90653
Pulmonary Capillary Hemangiomatosis	Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e...	ORPHA:199241
Mmep Syndrome	Microphthalmia, Cryptorchidism, Ventricular septal defect	ORPHA:3434
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal widening, Flexion con...	OMIM:300232
Neuroocular Syndrome	Hypoplasia of the fovea, Scapular winging, Remnants of the hyaloid vascular system, Short stature...	OMIM:619539
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha...	OMIM:250220
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat...	OMIM:108721
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Bilateral renal hypoplasia, Vesicoureteral reflux, A...	ORPHA:508488
Shox-Related Short Stature	Micrognathia, Short neck, Obesity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, L...	ORPHA:314795
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila...	ORPHA:2041
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, Polyhydramnios, Secundum atr...	OMIM:214800
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Short neck, Short toe, ...	OMIM:616145
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Short stature, Camptodactyly of finger, Renal hypoplasia/aplasia, Crypt...	ORPHA:568
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi...	ORPHA:175
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Patent ductus arteriosus, Retinal coloboma, Micro...	ORPHA:2328
Smith-Lemli-Opitz Syndrome	Renal cyst, Atrial septal defect, Micropenis, Hepatic steatosis, Penoscrotal hypospadias, Hepatom...	OMIM:270400
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Exstrophy-Epispadias Complex	Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k...	ORPHA:322
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Reduced bone mineral density, Increased susceptibilit...	ORPHA:561
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Degcags Syndrome	Polyhydramnios, Bilateral renal hypoplasia, Atrial septal defect, Diaphragmatic eventration, Pate...	OMIM:619488
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Congenital Bile Acid Synthesis Defect Type 2	Failure to thrive, Extramedullary hematopoiesis, Rickets	ORPHA:79303
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Joubert Syndrome 37	Decreased testicular size, Hepatomegaly, Short stature, Cryptorchidism, Microphthalmia, Micropeni...	OMIM:619185
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Micromelia, Abnormal epiphysis morpholo...	ORPHA:1798
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, T l...	ORPHA:508533
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Joint hypermobility, Genu valgum	OMIM:617798
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Short stature, Cryptorchidism, Optic at...	ORPHA:2510
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Coloboma, Retinal dysplasia, Microphthalmia, Congenital muscular dystrophy	ORPHA:324416
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Ne...	OMIM:301078
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Short stature, Flexion contracture, Optic atrophy, Ren...	OMIM:619321
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Re...	ORPHA:137675
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Microphthalmia, Cyclopia, Iris c...	OMIM:157170
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Limitation of joint mobility, Hip dislocation, Sacrococcygeal pilonidal abnormality, Slender long...	ORPHA:2840
Spondylo-Ocular Syndrome	Pes planus, Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibi...	ORPHA:85194
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Coloboma, Short stature, Iris coloboma	OMIM:610023
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent...	OMIM:614527
Mirizzi Syndrome	Elevated hepatic transaminase, Dark urine, Tachycardia, Pancreatitis, Jaundice, Cholesterol galls...	ORPHA:521219
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Epiphyseal Dysplasia, Baumann Type	Joint laxity, Epiphyseal dysplasia, Carpal bone aplasia, Pes planus, Hypoplasia of the femoral he...	OMIM:610797
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Joint hypermobility, Talipes, Micrognathia, Short neck, Elliptocytosis, ...	OMIM:300990
Aymé-Gripp Syndrome	Pericarditis, Proteinuria, Short stature, Congenital diaphragmatic hernia, Pericardial effusion, ...	ORPHA:1272
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Slender long bone, Decreased calvarial ossification, Decreased bo...	OMIM:618265
Townes-Brocks Syndrome	Atrial septal defect, Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abno...	ORPHA:857
Microphthalmia, Syndromic 13	Microphthalmia, Short stature, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Coloboma, Muscular dystrophy, Death in childhood, Left ventricular hypertroph...	OMIM:613153
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi...	OMIM:618150
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia, Micropenis	OMIM:308350
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema	ORPHA:79126
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia	ORPHA:309031
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Arthrogryposis Multiplex Congenita 6	Death in infancy, Hypospadias, Polyhydramnios, Death in childhood, Neonatal death, Increased vari...	OMIM:619334
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Decreased mobilit...	OMIM:164900
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Microphthalmia, Short stature	ORPHA:2528
Microphthalmia With Limb Anomalies	Failure to thrive, Toe syndactyly, Sandal gap, Sacral dimple, Capitate-hamate fusion, 2-3 toe cut...	OMIM:206920
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Short statu...	OMIM:610125
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Reduced bone mineral density, Slender long bone, Joint hyperflexibility, Spina b...	ORPHA:1185
Penile Agenesis	Urethral atresia, male, Hydroureter, Ventricular septal defect, Cryptorchidism, Fetal pyelectasis...	ORPHA:49
Poland Syndrome	Duplicated collecting system, Atrial septal defect, Encephalocele, Hypospadias, Dextrocardia, Con...	ORPHA:2911
Premature Ovarian Failure 12	Microphthalmia, Macular dystrophy	OMIM:616947
Lymphoproliferative Syndrome 1	Splenomegaly, Hepatomegaly, Pericardial effusion, Pleural effusion	OMIM:613011
Poems Syndrome	Papilledema, Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Asci...	ORPHA:2905
Multiple Benign Circumferential Skin Creases On Limbs	Hypospadias, Short stature, Edema, Cryptorchidism, Congestive heart failure, Umbilical hernia, Mi...	ORPHA:2505
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o...	OMIM:184253
Van Maldergem Syndrome 1	Growth delay, Hypospadias, Renal hypoplasia, Camptodactyly	OMIM:601390
Frontonasal Dysplasia 1	Anterior basal encephalocele, Coloboma, Pectoral muscle hypoplasia/aplasia, Joint contracture of ...	OMIM:136760
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Short stature, Congestive heart failure, Renal hyp...	OMIM:105650
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Thrombocytosis, Fa...	OMIM:212750
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Short neck, Knee dislocation, Shoulder dislocation, Dislocated radial h...	OMIM:245600
Osteoglophonic Dysplasia	Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B...	OMIM:166250
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Thin bony cortex, Pancytopenia, Small for gestational age, Rickets, Red...	OMIM:613658
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregular epiph...	OMIM:612813
Van Maldergem Syndrome 2	Hypospadias, Cryptorchidism, Renal hypoplasia, Growth delay, Hypoplastic nipples, Micropenis	OMIM:615546
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In...	OMIM:259770
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bones, Metaphyseal scler...	OMIM:607944
Williams-Beuren Syndrome	Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Atrial septal defect, Vesicouretera...	OMIM:194050
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo...	ORPHA:774
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, ...	ORPHA:264200
Xk Aprosencephaly Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Polyhydramnios	ORPHA:3469
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn...	OMIM:227270
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Telangiectasia of...	ORPHA:2092
Meacham Syndrome	Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Neonatal death, Atrial septal defect...	OMIM:608978
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Aciduria, Microvesicular hepa...	OMIM:203700
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosyn...	OMIM:616294
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly...	OMIM:619269
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine ami...	OMIM:618805
Autosomal Dominant Polycystic Kidney Disease	Renal cyst, Abnormal systemic arterial morphology, Decreased glomerular filtration rate, Pyelonep...	ORPHA:730
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia...	ORPHA:899
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia...	OMIM:612394
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Knee disl...	OMIM:143095
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Omodysplasia 2	Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume...	OMIM:164745
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d...	OMIM:613027
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Occipital encephalocele, Calf muscle pseudohypertrophy, Hypoglycosylation of ...	ORPHA:370959
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
1Q21.1 Microdeletion Syndrome	Short stature, Cryptorchidism, Patent ductus arteriosus, Hydronephrosis, Abnormal cardiac septum ...	ORPHA:250989
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Tricuspid regurgitation, Recurrent myoglobinuria, Elevated circulating aspartat...	OMIM:620300
Warburg Micro Syndrome 4	Decreased muscle mass, Short stature, Cryptorchidism, Flexion contracture, Optic atrophy, Severe ...	OMIM:615663
Myhre Syndrome	Ventricular septal defect, Short stature, Pericardial effusion, Cryptorchidism, Patent ductus art...	OMIM:139210
Acro-Renal-Ocular Syndrome	Renal malrotation, Optic disc hypoplasia, Renal hypoplasia/aplasia, Postnatal growth retardation,...	ORPHA:959
Temtamy Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma, Aortic aneurysm	ORPHA:1777
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Lumbar hyperlord...	ORPHA:2839
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Zygomycosis	Brain abscess, Splenic abscess, Osteolysis, Neutropenia	ORPHA:73263
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting	OMIM:609218
Classical-Like Ehlers-Danlos Syndrome Type 2	Carotid artery stenosis, Pericardial effusion, Cryptorchidism, Prominent veins on trunk, Mitral v...	ORPHA:536532
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital ...	ORPHA:1692
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Short humerus, Short femur, Flexion contracture, Polydactyly, Failure to ...	ORPHA:17
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Cryptorchidism, Hypoplasia of the iris, Subvalvular aortic stenosis, A...	OMIM:613001
Mccune-Albright Syndrome	Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Abnormal femur m...	ORPHA:562
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large h...	ORPHA:97685
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ...	ORPHA:50945
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos...	ORPHA:958
Trisomy 18	Abnormality of retinal pigmentation, Ventricular septal defect, Short stature, Abnormality of the...	ORPHA:3380
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Okamoto Syndrome	Ventricular septal defect, Urinary incontinence, Abnormally large globe, Splenomegaly, Abnormal l...	ORPHA:2729
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty...	OMIM:276820
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ...	ORPHA:758
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Congenital Gerbode Defect	Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho...	ORPHA:99095
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Coloboma, Left superior vena cava draining to coronary sinus,...	OMIM:611961
Aspartylglucosaminuria	Pes planus, Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Abnormal corti...	ORPHA:93
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Iris coloboma	OMIM:610092
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili...	ORPHA:2655
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl...	OMIM:601356
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Polyhydramnios, Urethral atresia, Transposition of the great arteries, Neonatal dea...	OMIM:314390
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Multicystic kidney dysplasia, Polyhydramnios, Cryptorchidism, Optic atroph...	ORPHA:3301
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Hydrops fetalis, Coar...	ORPHA:268249
Peters-Plus Syndrome	Ureteral duplication, Bilobate gallbladder, Polyhydramnios, Atrial septal defect, Iris coloboma, ...	OMIM:261540
Lowry-Wood Syndrome	Epiphyseal dysplasia, Joint stiffness, Coxa vara, Irregular epiphyses, Platyspondyly, Abnormal ep...	ORPHA:1824
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Short stature, Optic atrophy, Hypo...	OMIM:251300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia, Muscular dystrophy	OMIM:614830
Pseudoaminopterin Syndrome	Pes planus, Brachydactyly, Overlapping toe, Limited elbow movement, Sagittal craniosynostosis, As...	ORPHA:221120
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Combined Oxidative Phosphorylation Deficiency 47	Toe syndactyly, Short neck, Platyspondyly, Cone-shaped epiphyses of the distal phalanges of the h...	OMIM:618958
Subaortic Stenosis-Short Stature Syndrome	Short stature, Biliary tract abnormality, Membranous subvalvular aortic stenosis, Subvalvular aor...	ORPHA:3191
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ...	OMIM:187600
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t...	OMIM:271665
Stickler Syndrome, Type I	Arachnodactyly, Joint stiffness, Micrognathia, Kyphosis, Irregular femoral epiphysis, Osteoarthri...	OMIM:108300
Kinsship Syndrome	Death in infancy, Short stature, Renal hypoplasia, Horseshoe kidney	OMIM:619297
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Optic neuropathy, Pericardial effusion, Splenomegaly, Enlarged lacrimal glands, Hyp...	OMIM:181000
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Camptodactyly of finger, Acute rhabdomyolysis, Microphthalmia, Intrauterine growth...	ORPHA:48431
Baraitser-Winter Syndrome 2	Microphthalmia, Coloboma, Short stature, Webbed neck	OMIM:614583
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Rhabdomyolysis, Dehydration, Decreased liver function, Neonatal death, Myoglobinuria	OMIM:602199
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Nephroblastoma, Ventricular septal defect	OMIM:602501
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Retinal pigment epithelial mottling, Methylmalonic acidur...	OMIM:614105
Meckel Syndrome 14	Occipital encephalocele, Tricuspid regurgitation, Increased nuchal translucency, Mitral regurgita...	OMIM:619879
Warburg Micro Syndrome 1	Microphthalmia, Cryptorchidism, Optic atrophy, Short stature	OMIM:600118
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Short stature, Ectopic kidney, Cryptorchidism, Abno...	OMIM:227650
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto...	ORPHA:90652
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula...	OMIM:619525
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl...	OMIM:614524
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost...	OMIM:269500
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Short stature, Abnormal vitreous humor morphology, Exudative retinopathy, Exu...	ORPHA:2788
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Myocardial infarction, Atrioventricular canal defect, Spina bifida occulta, ...	ORPHA:500
Hypermobile Ehlers-Danlos Syndrome	Pes planus, Abnormal foot morphology, Osteoarthritis, Limitation of joint mobility, Hip dislocati...	ORPHA:285
Cerebrooculofacioskeletal Syndrome 1	Cryptorchidism, Flexion contracture, Elbow flexion contracture, Dehydration, Knee flexion contrac...	OMIM:214150
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Crypto...	ORPHA:2166
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Short stature, Ectopic kidney, Cryptorchidism, Hors...	OMIM:600901
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F...	OMIM:207410
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Congenital diaphragmatic hernia, Crypt...	ORPHA:2059
Cataract 9, Multiple Types	Microphthalmia, Iris coloboma	OMIM:604219
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Short neck, Coxa va...	ORPHA:800
Hall-Riggs Syndrome	Joint stiffness, Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abnor...	ORPHA:2107
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Polyhydramnios, Tubular luminal dilatation, Renal...	OMIM:219730
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabul...	OMIM:610442
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L...	ORPHA:2671
Chédiak-Higashi Syndrome	Elevated hepatic transaminase, Abnormality of retinal pigmentation, Epistaxis, Edema, Pericardial...	ORPHA:167
Momo Syndrome	Femoral bowing, Large hands, Short sternum, Abnormal bone ossification, Congenital pseudoarthrosi...	ORPHA:2563
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Intermediate Uveitis	Psoriasiform dermatitis, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Vas...	ORPHA:279914
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Multiple Endocrine Neoplasia Type 1	Increased susceptibility to fractures, Weight loss, Osteolysis, Reduced bone mineral density	ORPHA:652
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Osteopenia, Short femur, Hypertriglyceridemia, Camptodactyly of finger, ...	ORPHA:3455
Occipital Horn Syndrome	Joint laxity, Short humerus, Pes planus, Decreased circulating ceruloplasmin concentration, Decre...	OMIM:304150
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Short stature, Polyhydramnios, Optic disc coloboma, Pseudohyp...	OMIM:617157
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Postnatal growth retardation, Contracture of t...	ORPHA:83617
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Ventricular septal defect, Short stature, Congenital diaphragmatic...	OMIM:309801
Fraser Syndrome 1	Encephalocele, Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Myelomeningoc...	OMIM:219000
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia	OMIM:600740
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Fanconi-Bickel Syndrome	Failure to thrive, Rickets, Osteomalacia	OMIM:227810
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema...	OMIM:603903
Microphthalmia, Isolated 6	Microphthalmia, Retinal fold	OMIM:613517
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertens...	ORPHA:974
Gm1 Gangliosidosis	Camptodactyly of finger, Joint stiffness, Hyperlordosis, Splenomegaly, Kyphosis, Abnormal form of...	ORPHA:354
Martsolf Syndrome 1	Joint laxity, Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Micrognathi...	OMIM:212720
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Ventricular septal defect, Short stature, Ectopic k...	OMIM:227645
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Small for gestational age, Hypertriglyceridemia, Long foot,...	OMIM:264090
Warburg Micro Syndrome 3	Decreased muscle mass, Postnatal growth retardation, Flexion contracture, Optic atrophy, Micropht...	OMIM:614222
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, Pulmonary arterial hypertension, Atrial septal defect, Mi...	OMIM:616449
Moebius Syndrome	Congenital fibrosis of extraocular muscles, Facial diplegia, Camptodactyly, Microphthalmia, Micro...	OMIM:157900
Joubert Syndrome 2	Encephalocele, Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Chorioret...	OMIM:608091
Thanatophoric Dysplasia Type 2	Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abnorm...	ORPHA:93274
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine...	ORPHA:18
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,...	ORPHA:163966
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi...	OMIM:200980
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie...	OMIM:306955
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Knee flexion c...	OMIM:600920
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia, Pelvic kidney	OMIM:617244
Cerebrooculofacioskeletal Syndrome 4	Short stature, Abnormal retinal morphology, Camptodactyly of finger, Bilateral microphthalmos, El...	OMIM:610758
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Fanconi Anemia	Abnormality of the liver, Atrial septal defect, Hypospadias, Short stature, Spina bifida, Cryptor...	ORPHA:84
Congenital Varicella Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:291
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi...	ORPHA:564
Seckel Syndrome 1	Ivory epiphyses, 11 pairs of ribs, Pancytopenia, Pes planus, Sandal gap, Abnormal finger flexion ...	OMIM:210600
3Q29 Microdeletion Syndrome	Hypospadias, Patent ductus arteriosus, Horseshoe kidney, Pulmonary arterial hypertension, Subvalv...	ORPHA:65286
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Talipes, Micrognathia, Short neck, Preaxial hand poly...	ORPHA:261318
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Truncus arteriosus, Con...	ORPHA:2538
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Optic atrophy	ORPHA:1528
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Anterior pituitary hypopl...	OMIM:206900
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Talipes, Severe generalized osteoporosis, Micrognathia, Kyphoscoliosis, Hypoplas...	OMIM:210730
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Ventricular arrhythmia, Elevated circulating growth hormone concentrati...	ORPHA:91347
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial...	OMIM:304120
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab...	ORPHA:3472
Townes-Brocks Syndrome 1	Atrial septal defect, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral va...	OMIM:107480
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Hypospadias, Short stature, Cryptorchidism, Penoscrotal transposition, Patent duct...	OMIM:619148
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Splenomegaly, H...	OMIM:618641
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Optic atrophy, Skeletal muscle atrophy	OMIM:617255
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Microphthalmia, Syndromic 1	Hydroureter, Hypospadias, Bicuspid aortic valve, Anophthalmia, Renal hypoplasia/aplasia, Cryptorc...	OMIM:309800
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Fraser Syndrome	Encephalocele, Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, ...	ORPHA:2052
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy...	OMIM:154780
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Chorioretinal dysplasia, Lymphedema, Chorioretinal lacunae, Optic atrophy, Mi...	OMIM:152950
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Nephroblastoma, Congenital diap...	OMIM:194080
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Ventricular septal defect, Pulmonary arterial hypertension, Male urethral meatus ste...	ORPHA:464738
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the...	ORPHA:2255
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Ventricular septal defect, Retinitis, Cryptorchidism, Epispadias, Optic ...	OMIM:615948
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Ventricular septal defect, Short stature, Ectopic kidney, Postnatal gro...	OMIM:135900
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Atrial septal defect, Ne...	OMIM:265380
Lowe Oculocerebrorenal Syndrome	Hypercholesterolemia, Osteomalacia, Camptodactyly of finger, Elevated circulating creatine kinase...	OMIM:309000
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d...	ORPHA:411709
Temtamy Syndrome	Aortic regurgitation, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Aortic aneurysm	OMIM:218340
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Short stature, Unilateral microphthalmos, Mitral valve prolapse, Macroorchidism, Iri...	OMIM:618874
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Dextrocardia, Patent ductus arteriosus, Abnormal vit...	ORPHA:1571
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation, Renal hypoplasia/aplasia	ORPHA:1438
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Short stature, Ectopic kidney, Cryptorchidism, Pate...	OMIM:227646
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, Short stature, Horseshoe kidney, Camptodactyly, Mic...	OMIM:272950
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Postnatal growth retardation, Cryptorchidi...	OMIM:241410
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Congenital diaphragmatic hernia, Abnormality of the spleen, Pa...	ORPHA:2162
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Chorioretinal dysplasia, Congenital diaphragmatic hernia, Epispadias, Vitritis, Ret...	ORPHA:2556
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Cardiomegaly, Amyloid deposition in the vitreous humor, Stroke-like episode...	OMIM:105210
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Joint stiffness, Metatarsus adductus, Splenomegaly,...	OMIM:253220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Skeletal muscle atrophy, Dilated cardiomyopathy, Optic atrophy...	OMIM:253800
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art...	ORPHA:210122
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis, Green urine	OMIM:614156
Jacobsen Syndrome	Hypospadias, Ventricular septal defect, Cryptorchidism, Flexion contracture, Optic atrophy, Macul...	OMIM:147791
Oculofaciocardiodental Syndrome	Retinal detachment, Patent ductus arteriosus, Flexion contracture of the 4th toe, Mitral valve pr...	ORPHA:2712
Ritscher-Schinzel Syndrome 3	Death in infancy, Postnatal growth retardation, Cryptorchidism, Chorioretinal coloboma, Microphth...	OMIM:619135
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla...	OMIM:269150
Atypical Werner Syndrome	Sclerosis of hand bone, Pes planus, Increased bone mineral density, Short palm, Rocker bottom foo...	ORPHA:79474
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Wide capital femoral epiphyses, Small for gestational age, Lumbar hyperlordosi...	ORPHA:1830
Warburg Micro Syndrome 2	Postnatal growth retardation, Cryptorchidism, Flexion contracture, Optic atrophy, Microphthalmia,...	OMIM:614225
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Polyhydramnios, Edema, Postnatal growth retardation, Microphthalmia, Hydronephrosis	OMIM:302960
Infantile Nephropathic Cystinosis	Failure to thrive, Rickets	ORPHA:411629
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arteriosus, ...	OMIM:616975
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short stature, Abnormal heart morphology, Retinal coloboma, Microphthalmia, Renal dysplasia	OMIM:618571
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Flexion contracture, Severe postnatal growth retardation, Microphthalmia, Hydronep...	ORPHA:35173
Melnick-Needles Syndrome	Short humerus, Pes planus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos...	OMIM:309350
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Ventricular septal ...	OMIM:229850
Monosomy 18P	Short stature, Lymphedema, Hypertension, Webbed neck, Microphthalmia	ORPHA:1598
Achondrogenesis Type 2	Retinal detachment, Short stature, Abnormal vitreous humor morphology, Edema	ORPHA:93296
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cryptorchidism, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Charge Syndrome	Anophthalmia, Polyhydramnios, Chorioretinal coloboma, Vesicoureteral reflux, Micropenis, Iris col...	ORPHA:138
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia...	OMIM:102700
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Orbital encephalocele, Anophthalmia	OMIM:164180
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Muscular dystrophy	OMIM:615181
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Wrinkly Skin Syndrome	Osteopenia, Pes planus, Congenital hip dislocation, Kyphoscoliosis, Generalized joint laxity, Cox...	ORPHA:2834
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan...	OMIM:600001
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Camptodactyly, Knee flexion contracture	OMIM:619694
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vascular dilatation	OMIM:602200
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Growth delay, Interrupted aor...	OMIM:616920
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Flexion contracture, Coloboma, Muscular dystrophy, Microphthalmia, Retina...	OMIM:615249
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly, Micr...	OMIM:618804
Stickler Syndrome Type 2	Retinal detachment, Retinopathy, Abnormal vitreous humor morphology	ORPHA:90654
Pmm2-Cdg	Multiple joint contractures, Lymphedema, Intracranial hemorrhage, Hepatic fibrosis, Aplasia of th...	ORPHA:79318
Adams-Oliver Syndrome 2	Microphthalmia, Optic atrophy, Limb hypertonia, Oligohydramnios	OMIM:614219
Osteopathia Striata With Cranial Sclerosis	Failure to thrive, Paranasal sinus hypoplasia, Arachnodactyly, Tracheomalacia, Micrognathia, Thor...	OMIM:300373
Ulbright-Hodes Syndrome	Abnormal penis morphology, Postnatal growth retardation, Cryptorchidism, Renal hypoplasia, Birth ...	ORPHA:3404
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia, Polyhydramnios	ORPHA:261272
Lacrimoauriculodentodigital Syndrome	Cryptorchidism, Patent ductus arteriosus, Xerostomia, Renal hypoplasia, Vesicoureteral reflux, Co...	ORPHA:2363
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Tibial Hemimelia	Absent tibia	OMIM:275220
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of t...	ORPHA:171
Hartsfield Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:2117
Mucopolysaccharidosis, Type X	Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Beaking of ver...	OMIM:619698
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Coloboma, Microphthalmia, Optic atrophy	OMIM:612379
Microphthalmia, Syndromic 6	Anophthalmia, Retinal dystrophy, Cryptorchidism, Renal hypoplasia, Coloboma, Microphthalmia, Ante...	OMIM:607932
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation	OMIM:609054
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Renal h...	ORPHA:93271
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Short stature, Cryptorchidism, Bilateral microphthalmos, Abnormal hear...	ORPHA:369891
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Cryptorchidism, Oligohydramnios, Microphthalmia, Intrauterine growth retardation	ORPHA:228390
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Patent ductus arteriosus, Knee flexion contra...	ORPHA:435638
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral ren...	ORPHA:2237
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all ...	OMIM:218330
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Growth delay, Umbilical hernia, ...	OMIM:613884
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ...	OMIM:613834
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Bowing of the legs, Hypoplastic...	ORPHA:1855
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Rhizomelia, Wide anterior fontanel, Kyphosis, Tibial bowing,...	OMIM:616482
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Coxa valga, Osteoarthr...	ORPHA:740
Combined Immunodeficiency-Enteropathy Spectrum	Psoriasiform dermatitis, Ventricular septal defect, Polyhydramnios, Hepatitis, Hypoplasia of the ...	ORPHA:436252
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Solitary Median Maxillary Central Incisor	Anophthalmia, Cyclopia, Decreased response to growth hormone stimulation test, Short stature, Col...	OMIM:147250
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Polyhydramnios, Complete atrioventricul...	OMIM:236680
Steinfeld Syndrome	Absent gallbladder, Abnormal heart morphology, Retinal coloboma, Microphthalmia, Unilateral renal...	OMIM:184705
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Hypospadias, Coloboma, Microphthalmia	OMIM:615877
Chromosome 8Q21.11 Deletion Syndrome	Cryptorchidism, Growth delay, Pigmentary retinopathy, Camptodactyly, Microphthalmia, Micropenis	OMIM:614230
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr...	OMIM:212550
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Paten...	ORPHA:141099
Vacterl With Hydrocephalus	Anophthalmia, Renal agenesis, Polyhydramnios, Renal hypoplasia/aplasia, Spina bifida, Cryptorchid...	ORPHA:3412
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met...	ORPHA:99646
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Ventricular septal defect, Short st...	ORPHA:193
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hypospadias, Short stature, Cryptorchidism, Optic atrophy, Renal hypoplasia, Macroglossia, Lower ...	OMIM:309580
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Short stature, Growth delay, Unilateral renal hypoplasia, Macroorchidism, Limb hypertonia	OMIM:619950
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Severe short stature, Proteinuria, Postnatal growth retardatio...	OMIM:133540
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Atrial septal defect, Neonat...	OMIM:612289
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Renal hypoplasia/aplasia, Abnormal localization of kidney, ...	ORPHA:3186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Occipital encephalocele, Retinal atrophy, Optic nerve hypoplasia, Cryptorchid...	OMIM:236670
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Retinal dystrophy, Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Iris col...	ORPHA:139471
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Flexion contracture, Microphthalmia, Mild short stature	OMIM:614833
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Chorioretinal dysplasia, Dehydration, Oligosacchariduria, Nephrocalcinosis, ...	ORPHA:534
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Wilson Disease	Hemolytic anemia, Osteomalacia, Joint hypermobility, Splenomegaly, Osteoarthritis, Osteoporosis, ...	OMIM:277900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Polyhydramnios, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Phace Syndrome	Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho...	ORPHA:42775
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta...	OMIM:225400
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Fetal Alcohol Syndrome	Short stature, Congenital diaphragmatic hernia, Atrial septal defect, Microphthalmia, Intrauterin...	ORPHA:1915
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Severe short stature, Hypospadias, Optic nerve hypoplasia, Unilateral renal ag...	ORPHA:468631
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Cryptorchidism, Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent urinary tract infections, Severe short stature, A...	ORPHA:90349
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Kyphoscoliosis, Micrognathia, Absent frontal sinuses, Short neck, Tall ...	OMIM:102500
Myhre Syndrome	Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Platyspondyly, Abnormal epiphysis morp...	ORPHA:2588
Aspergillosis	Abnormality of the kidney, Vitritis, Hepatitis, Intracranial hemorrhage, Stroke, Pleural effusion	ORPHA:1163
Roberts Syndrome	Progressive flexion contractures, Polyhydramnios, Postnatal growth retardation, Cryptorchidism, L...	ORPHA:3103
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Hydrolethalus	Anophthalmia, Polyhydramnios, Cryptorchidism, Anencephaly, Microphthalmia	ORPHA:2189
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Splenomegaly, Weight loss, T ...	OMIM:619381
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature, Cr...	ORPHA:1101
Stickler Syndrome, Type Ii	Retinal detachment, Abnormal vitreous humor morphology	OMIM:604841
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Coloboma	OMIM:167730
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid	ORPHA:209956
Neu-Laxova Syndrome 1	Hydranencephaly, Ventricular septal defect, Renal agenesis, Polyhydramnios, Spina bifida, Cryptor...	OMIM:256520
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Knee flexion contracture, Coloboma, Atrial septal defect, Wrist flexion contractu...	OMIM:268300
Pelvis-Shoulder Dysplasia	Short stature, Optic disc coloboma, Microphthalmia, Spina bifida occulta, Iris coloboma	OMIM:169550
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior...	ORPHA:2526
Dubowitz Syndrome	Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Hypoplasia of the iris,...	OMIM:223370
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ...	ORPHA:83461
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Ventricular septal defect, Supernumerary nipple, Congenital diaphragmatic hernia, ...	OMIM:612530
Stickler Syndrome	Arachnodactyly, Protrusio acetabuli, Cachexia, Micrognathia, Kyphosis, Osteoarthritis, Hip disloc...	ORPHA:828
Cystinosis, Nephropathic	Failure to thrive in infancy, Splenomegaly, Metaphyseal widening, Rickets, Weight loss, Genu valg...	OMIM:219800
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Short stature, Iris coloboma	ORPHA:1791
8Q21.11 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Hypoplasia of penis, Camptodactyly of finger	ORPHA:284160
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Unilateral microphthalmos	OMIM:615085
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Abnormal cardiac septum morphology, Ocular albinism, Intrauterine growth retardation	ORPHA:1352
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility, Talipes equinovarus	ORPHA:286
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Cryptorchidism, Microphthalmia, Iris coloboma	ORPHA:2250
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Short stature	OMIM:614284
Knobloch Syndrome 1	Duplicated collecting system, Retinal detachment, Optic disc pallor, Occipital encephalocele, Ren...	OMIM:267750
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist...	OMIM:300952
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Microphthalmia, Short stature, Intrauterine growth retardation	OMIM:616395
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Short stature, Camptodactyly of finger, Cryptorchidism, Optic disc col...	ORPHA:251014
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia, Ventricular septal defect, Optic atrophy	OMIM:234050
Otodental Syndrome	Microphthalmia, Lens coloboma, Retinal coloboma, Iris coloboma	ORPHA:2791
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Absent nipple, Aplasia of the thymus, Short stature, Polyhydramnios, Facial palsy...	OMIM:620186
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Coloboma, Short stature	OMIM:617306
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Coloboma, Bilateral microphthalmos, Severe postnatal growth retardation	ORPHA:2399
Fanconi Anemia, Complementation Group S	Microphthalmia, Short stature, Ovarian carcinoma, Ovarian neoplasm	OMIM:617883
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia, Retinal detachment, Iris coloboma, Macular coloboma	OMIM:615145
3Q29 Microduplication Syndrome	Ventricular septal defect, Camptodactyly of toe, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Nance-Horan Syndrome	Microphthalmia, Retinal detachment	ORPHA:627
Bartsocas-Papas Syndrome 1	Ectopic kidney, Bilateral cryptorchidism, Flexion contracture, Arthrogryposis multiplex congenita...	OMIM:263650
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal...	OMIM:612109
Pallister-Hall Syndrome	Ectopic kidney, Gonadotropin deficiency, Atrial septal defect, Micropenis, Atrioventricular canal...	ORPHA:672
Mowat-Wilson Syndrome	Hypospadias, Abnormality of the kidney, Supernumerary nipple, Ventricular septal defect, Pulmonar...	OMIM:235730
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi...	ORPHA:93317
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating creatinine concentration,...	ORPHA:542323
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Short stature, Diastasis recti, Supernumerary nipple, Congeni...	OMIM:305600
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Treacher-Collins Syndrome	Encephalocele, Thyroid hypoplasia, Hypoplasia of penis, Branchial fistula, Cryptorchidism, Patent...	ORPHA:861
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia, Facial hypotonia	OMIM:614526
Frontorhiny	Encephalocele, Camptodactyly of finger, Basal encephalocele, Cranium bifidum occultum, Microphtha...	ORPHA:391474
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:1553
Frontonasal Dysplasia 2	Encephalocele, Bilateral cryptorchidism, Oligohydramnios, Microphthalmia, Intrauterine growth ret...	OMIM:613451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Death in infancy, Increased variability in muscle fiber diameter, Buphthalmos, Ske...	OMIM:613150
Hallermann-Streiff Syndrome	Spina bifida, Proportionate short stature, Cryptorchidism, Optic disc coloboma, Telangiectasia, H...	OMIM:234100
Oculodentodigital Dysplasia	Neurogenic bladder, Joint contracture of the 5th finger, Atrial septal defect, Microphthalmia, Ar...	OMIM:164200
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Holoprosencephaly 1	Short stature, Micropenis, Microphthalmia, Cyclopia, Single ventricle	OMIM:236100
Ohdo Syndrome, X-Linked	Microphthalmia, Cryptorchidism, Micropenis	OMIM:300895
Premature Aging Syndrome, Penttinen Type	Prominent superficial veins, Hypermyelinated retinal nerve fibers, Corneal stromal edema, Thin sk...	OMIM:601812
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Cryptorchidism, Coloboma, Microphthalmia, Micropenis	OMIM:603457
Tetraamelia Syndrome 1	Renal agenesis, Congenital diaphragmatic hernia, Asplenia, Urethral atresia, Microphthalmia, Adre...	OMIM:273395
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Monosomy 9P	Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Webbed neck, Microphthalmia, Ureter...	ORPHA:261112
Monosomy 9Q22.3	Ovarian fibroma, Rhabdomyosarcoma, Cardiac fibroma, Umbilical hernia, Microphthalmia, Nephroblast...	ORPHA:77301
Anterior Segment Dysgenesis 2	Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia	OMIM:610256
Holoprosencephaly 9	Anophthalmia, Short stature, Decreased response to growth hormone stimulation test, Anterior pitu...	OMIM:610829
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Trichothiodystrophy 1, Photosensitive	Death in infancy, Short stature, Flexion contracture, Telangiectasia, Microphthalmia	OMIM:601675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Retinal dystrophy, Increased variability in muscle fiber diameter, Buphthalmos, Muscular dystroph...	OMIM:616538
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary ...	OMIM:100300
Johanson-Blizzard Syndrome	Hepatic fibrosis, Death in childhood, Atrial septal defect, Micropenis, Hepatomegaly, Hypospadias...	OMIM:243800
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Short stature, Supernumerary nipple, Retinal vascula...	OMIM:308300
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia, Iris coloboma	OMIM:269400
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Joint contracture of the 5th finger, Supernumerary nipple	OMIM:620098
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Renal dysplasia, Short stature, Cyst of the ductus choledochus, Patent ductus arteriosus, Cardiom...	ORPHA:480880
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Renal agenesis, Supernumerary nipple, Facial palsy, Postnatal growth r...	OMIM:113620
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Spina bifida, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carcinoma, Microphth...	OMIM:109400
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Skin Creases, Congenital Symmetric Circumferential, 2	Short stature, Hypospadias, Cryptorchidism, Ureterocele, Microphthalmia	OMIM:616734
Norrie Disease	Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp...	OMIM:310600
Opsismodysplasia	Short neck, Hypoplasia of the odontoid process, Hypoplastic vertebral bodies, Scoliosis, Severe p...	OMIM:258480
Trichothiodystrophy	Multiple joint contractures, Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos,...	ORPHA:33364
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Platyspondyly, Beaking of vertebral bodies T12-L3	ORPHA:79255
Witteveen-Kolk Syndrome	Branchial fistula, Unilateral cryptorchidism, Decreased response to growth hormone stimulation te...	OMIM:613406
Rodrigues Blindness	Microphthalmia, Short stature	OMIM:268320
Mowat-Wilson Syndrome	Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux...	ORPHA:261552
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor...	ORPHA:50
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Spina bifida, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation ...	OMIM:619480
Marshall Syndrome	Retinal detachment, Vitreoretinopathy, Short stature, Abnormal vitreous humor morphology	ORPHA:560
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ventricular ...	OMIM:164210
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Intrauterine growth retardation, Oligohydramnios	ORPHA:364577
Phacoanaphylactic Uveitis	Vitritis, Abnormal vitreous humor morphology, Retinal arteritis, Macular edema, Corneal stromal e...	ORPHA:209959
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Camptodactyly of finger, Iris coloboma, Supernumerary nipple	ORPHA:1236
Enhanced S-Cone Syndrome	Edema, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Pigmentary retinopathy, Optic atrophy, Short stature	OMIM:610651
Monosomy 13Q14	Short stature, Webbed neck, Microphthalmia, Iris coloboma, Retinoblastoma, Intrauterine growth re...	ORPHA:1587
Mend Syndrome	Short stature, Cryptorchidism, Abnormal heart morphology, Microphthalmia, Aortic valve stenosis, ...	ORPHA:401973
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia, Short stature	OMIM:257850
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Short stature	ORPHA:1806
Aicardi Syndrome	Retinal detachment, Spina bifida, Postnatal growth retardation, Chorioretinal lacunae, Optic disc...	OMIM:304050
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Urinary incontinence, Hemobilia, Neoplasm of the gallbladder	ORPHA:512
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele, Iris coloboma	OMIM:601707
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia, Adenoma sebaceum, Iris coloboma	ORPHA:2612
Aspartylglucosaminuria	Joint laxity, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Pathologic fracture, Beaking of ...	OMIM:208400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomala...	ORPHA:444077
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples	OMIM:156610
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Oligohydramnios, Ventricular septal hypertrophy, Microphthalmia, Intra...	OMIM:608670
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia, Homocystinuria	OMIM:601552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retinal dysplasi...	OMIM:253280
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar...	OMIM:612474
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Hallermann-Streiff Syndrome	Proportionate short stature, Cryptorchidism, Congestive heart failure, Abdominal situs inversus, ...	ORPHA:2108
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Optic atrophy	OMIM:618727
Rothmund-Thomson Syndrome, Type 2	Short stature, Cryptorchidism, Telangiectasia, Microphthalmia, Annular pancreas	OMIM:268400
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Short stature, Postnatal growth retardation, Bilateral microphthalmos, Retinal calci...	ORPHA:93325
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Corneal neovascularization, Telangiectasia	OMIM:278730
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Optic atrophy, Short stature	OMIM:201180
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Occipital meningocele, Panhypopituitarism, Iris coloboma	OMIM:610828
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Pectoral muscle hypoplasia/aplasia, Cranium bifidum occultum, Microphtha...	ORPHA:306542
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem...	OMIM:175780
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Increased circulating gonadotropin level	OMIM:110100
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ...	ORPHA:79098
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia, Iris coloboma	OMIM:229400
Knobloch Syndrome 2	Encephalocele, Retinal detachment, Vitreous floaters, Patent ductus arteriosus, Vitreoretinopathy	OMIM:618458
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal v...	ORPHA:2273
Antiphospholipid Syndrome, Familial	Retinal vasculitis, Retinal detachment, Vitritis, Central retinal artery occlusion	OMIM:107320
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Treacher Collins Syndrome 1	Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology, Abnormal heart morph...	OMIM:154500
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Retinoblastoma	Vitritis, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Pinealoma	OMIM:180200

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Notch2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Notch2.

No publications found that use IMPC mice or data for Notch2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Notch2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Notch2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Notch2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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