Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, Coarse metaphyseal trabecularization, Abnormal pelvic girdle b... |
ORPHA:2779 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Dilution, Pigmentary |
|
Hypopigmentation of the fundus, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypo... |
OMIM:126070 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Albinism, Oculocutaneous, Type Iv |
|
Macular hypoplasia, Albinism, Hypopigmentation of the fundus, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of the fundus, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:606952 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... |
OMIM:118651 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... |
OMIM:112910 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Woolly Hair |
|
Sparse body hair, Abnormal retinal morphology, Sparse lateral eyebrow, Brittle hair, Fine hair, W... |
ORPHA:170 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Hypoplastic fingernail, Abnormal metaphysis morphology, ... |
ORPHA:240 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... |
OMIM:127300 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Iris transillumination defect, Hypopigmentation of hair, Hypoplasia... |
OMIM:619165 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
Hidrotic Ectodermal Dysplasia |
|
Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Clubbing of fingers, Absent ... |
ORPHA:189 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Volar fing... |
OMIM:619217 |
Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... |
OMIM:601376 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... |
OMIM:605274 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Premature graying of hair, Optic atrophy, Aplasia/Hypoplasia of the... |
ORPHA:33445 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of the fu... |
OMIM:203200 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... |
OMIM:133780 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology |
ORPHA:2786 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Aplasia/Hypoplasia of the nails, Micrognathia, ... |
ORPHA:2756 |
White Forelock With Malformations |
|
White forelock, Poliosis, Aplasia/Hypoplasia of the distal phalanges of the toes |
OMIM:277740 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Patchy hypo- and hyperpigmentation, Chorioretinal coloboma, Numerous pigmented fr... |
OMIM:601706 |
Albinism, Oculocutaneous, Type Vi |
|
Fair hair, Hypoplasia of the fovea, Generalized hypopigmentation |
OMIM:113750 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
Dyschondrosteosis And Nephritis |
|
Short tibia, Radial bowing, Ulnar bowing, Short forearm |
OMIM:127350 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Small nail, Malaligned carpal bone, Patellar disloc... |
OMIM:228900 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Deep-set nails, O... |
OMIM:201170 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... |
ORPHA:79435 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly, Retinal coloboma |
OMIM:258865 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Retinal d... |
OMIM:607143 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... |
OMIM:612576 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Abnormal macular morphology, Synophrys, W... |
ORPHA:897 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... |
ORPHA:3437 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
Blount Disease |
|
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... |
ORPHA:2768 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:607624 |
Eales Disease |
|
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... |
ORPHA:40923 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... |
ORPHA:93356 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Retinopathy, Abnormal pelvis bone ossification, Limb undergrowth, Short... |
ORPHA:1505 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydac... |
ORPHA:1106 |
Griscelli Syndrome Type 1 |
|
Retinopathy, Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism |
ORPHA:79476 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... |
OMIM:119100 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Cone/cone-rod dystrophy, Rhizomelia, Sh... |
OMIM:608940 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Abnormal ulnar metaphysis morpho... |
ORPHA:177910 |
Oculocutaneous Albinism Type 1 |
|
Depigmented fundus, Generalized hypopigmentation of hair, Generalized hypopigmentation, White eye... |
ORPHA:352731 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... |
OMIM:258860 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... |
OMIM:193220 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Eiken Syndrome |
|
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... |
ORPHA:79106 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... |
OMIM:601559 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Ermine Phenotype |
|
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... |
ORPHA:85170 |
Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... |
OMIM:193510 |
Slc35A2-Cdg |
|
Short tibia, Camptodactyly of finger, Hip subluxation, Hypopigmentation of the skin, Coxa valga, ... |
ORPHA:356961 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... |
ORPHA:3344 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Genu valgum, Metaphyseal irregularity, Alopecia, Bulging epiphyses, Rickets of the lo... |
OMIM:600785 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... |
OMIM:268305 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... |
OMIM:251230 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... |
ORPHA:166016 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Toe syndactyly, Iris hypopigmentation, Clinodactyly... |
ORPHA:999 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Advanced ossification of carpal bones, Short metacarpal, Fair hair, Blue... |
OMIM:614613 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Optic nerve hypoplasia,... |
OMIM:603671 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy... |
OMIM:609945 |
Atelosteogenesis Type Iii |
|
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... |
ORPHA:56305 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... |
ORPHA:2634 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Thick hair, Finger syndactyly, Cen... |
ORPHA:2751 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Sparse eyebrow, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Micro... |
OMIM:616300 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
Muenke Syndrome |
|
Carpal synostosis, Hypopigmented skin patches, Hypopigmentation of hair, Short palm, Hypermelanot... |
ORPHA:53271 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... |
OMIM:609441 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Waardenburg Syndrome, Type 4A |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:277580 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di... |
OMIM:613091 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl... |
ORPHA:1988 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs, Short long bone,... |
OMIM:263520 |
Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... |
OMIM:227270 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... |
OMIM:602111 |
Waardenburg Syndrome, Type 3 |
|
Camptodactyly of finger, Premature graying of hair, Cutaneous finger syndactyly, Synophrys, Clino... |
OMIM:148820 |
Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... |
ORPHA:894 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Frontal hirsutism, Me... |
ORPHA:96334 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Bila... |
OMIM:119800 |
Piebaldism |
|
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... |
ORPHA:2884 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Hypopigmentation of hair, Hypoplasia of the fovea, Blue irides, White ... |
OMIM:203100 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Squalene Synthase Deficiency |
|
Knee flexion contracture, 2-3 toe syndactyly, Abnormality of hair pigmentation, Micrognathia, Sle... |
OMIM:618156 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... |
OMIM:206920 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Hypoplastic pubic bone, Short ribs, Short long bone, Micrognathia, Preaxial polydact... |
OMIM:617925 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, R... |
OMIM:171480 |
Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... |
OMIM:258315 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi... |
ORPHA:3320 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Micrognathia |
OMIM:619074 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Ophthalmomandibulomelic Dysplasia |
|
Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia |
OMIM:164900 |
Hermansky-Pudlak Syndrome 11 |
|
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Hypoplasi... |
OMIM:619172 |
Brittle Cornea Syndrome |
|
Hallux valgus, Abnormality of hair pigmentation, Hip dysplasia, Camptodactyly, Arachnodactyly, Re... |
ORPHA:90354 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... |
OMIM:172800 |
Acquired Hypertrichosis Lanuginosa |
|
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Eiken Syndrome |
|
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... |
OMIM:600002 |
Hermansky-Pudlak Syndrome 1 |
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Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411515 |
Occipital Horn Syndrome |
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Genu valgum, Humerus varus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Apla... |
ORPHA:198 |
Obesity Due To Prohormone Convertase I Deficiency |
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Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... |
OMIM:208500 |
Atelosteogenesis, Type I |
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Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... |
OMIM:108720 |
Fibrochondrogenesis 1 |
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Hypoplastic toenails, Dumbbell-shaped long bone, Short foot, Rhizomelia, Short ribs, Short long b... |
OMIM:228520 |
Waardenburg Syndrome, Type 2E |
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Cafe-au-lait spot, Premature graying of hair, Ocular albinism, Iris hypopigmentation, White eyela... |
OMIM:611584 |
Acrofacial Dysostosis, Rodríguez Type |
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Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... |
ORPHA:1788 |
Ataxia-Telangiectasia |
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Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair |
ORPHA:100 |
Orofaciodigital Syndrome X |
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Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia |
OMIM:165590 |
Acro-Renal-Mandibular Syndrome |
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Finger syndactyly, Hypoplasia of the radius, Micrognathia, Hip dislocation, Hypoplasia of the uln... |
ORPHA:958 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Avascular necrosis of the capital femoral epiphysis, Macular edema, Retinal cotton wool spot, Ret... |
ORPHA:247691 |
Griscelli Syndrome Type 2 |
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Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair |
ORPHA:79477 |
Saul-Wilson Syndrome |
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Coxa valga, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypoplasia of the odontoid proces... |
OMIM:618150 |
Waardenburg Syndrome |
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Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... |
ORPHA:3440 |
Phocomelia, Schinzel Type |
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Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing... |
ORPHA:2879 |
Omodysplasia 2 |
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Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Clinodactyly o... |
OMIM:164745 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Hypopigmentation of hair |
ORPHA:70472 |
Schneckenbecken Dysplasia |
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Hypoplastic toenails, Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thicken... |
ORPHA:3144 |
Waardenburg Syndrome, Type 1 |
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Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmentation of the fun... |
OMIM:193500 |
Duane Retraction Syndrome |
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Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Patchy hypopigme... |
ORPHA:233 |
Acrorenal-Mandibular Syndrome |
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Toe syndactyly, Micrognathia, Foot polydactyly, Hypoplasia of the radius, Hand polydactyly, Hip d... |
OMIM:200980 |
Carney Complex, Type 1 |
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Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair |
OMIM:160980 |
Acromelic Frontonasal Dysplasia |
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Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Abnormal toenail... |
ORPHA:1827 |
Cranioectodermal Dysplasia 1 |
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Short toe, Rhizomelia, Short ribs, Retinal dystrophy, Clinodactyly, Short humerus, Short nail, Fi... |
OMIM:218330 |
Chediak-Higashi Syndrome |
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Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Macular hypoplas... |
OMIM:214500 |
Thrombocytopenia-Absent Radius Syndrome |
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Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Finger syndactyly, Coarse hair, Micrognathia, Widow's peak, Clinodactyly of the 5th fin... |
ORPHA:1974 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot |
OMIM:618541 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... |
ORPHA:3214 |
Brittle Cornea Syndrome 1 |
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Red hair, Congenital hip dislocation, Palmoplantar cutis laxa |
OMIM:229200 |
Sim1-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of the skin, Small hand, Hip dysplasia, Hypopigmentation of hair, Short foot, Ch... |
ORPHA:398079 |
Classic Phenylketonuria |
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Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Campomelic Dysplasia |
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11 pairs of ribs, Short long bone, Micrognathia, Hypoplastic inferior ilia, Hip dislocation, Femo... |
ORPHA:140 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Choroideremia, Ocular albinism, Iris hypopigmentation, Abnormal thumb morphology, Hypopigmentatio... |
ORPHA:2719 |
Prader-Willi Syndrome |
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Genu valgum, Hypopigmentation of the skin, Small hand, Short foot, Generalized hypopigmentation, ... |
OMIM:176270 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... |
OMIM:276820 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Long eye... |
ORPHA:79430 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98795 |
Campomelic Dysplasia |
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Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metatarsus adductus, Dislo... |
OMIM:114290 |
Waardenburg Syndrome, Type 4C |
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Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613266 |
Hoyeraal-Hreidarsson Syndrome |
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Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Generalized h... |
ORPHA:3322 |
Magel2-Related Prader-Willi-Like Syndrome |
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Hypopigmentation of the skin, Small hand, Hip dysplasia, Hypopigmentation of hair, Short foot, Ch... |
ORPHA:398069 |
Acrodysostosis With Multiple Hormone Resistance |
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Short phalanx of finger, Short toe, Short metacarpal, Absent/hypoplastic paranasal sinuses, Fair ... |
ORPHA:280651 |
Hypohidrotic Ectodermal Dysplasia |
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Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... |
ORPHA:238468 |
Hydrolethalus Syndrome 1 |
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Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial hypoplasia, Dupl... |
OMIM:236680 |
Vici Syndrome |
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Hypopigmentation of the skin, Ocular albinism, Macular hypoplasia, Micrognathia, Albinism, Macula... |
OMIM:242840 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of the skin, Small hand, Micrognathia, Iris hypopigmentation, Clinodactyly, Clin... |
ORPHA:177907 |
Angelman Syndrome Due To A Point Mutation |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:411511 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Limitation of move... |
ORPHA:98794 |
Koolen-De Vries Syndrome |
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Hypopigmentation of hair, Abnormality of hair texture, Hip dislocation, Arachnodactyly |
ORPHA:96169 |
Otopalatodigital Syndrome, Type Ii |
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Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bott... |
OMIM:304120 |
Smith-Lemli-Opitz Syndrome |
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Talipes calcaneovalgus, 2-3 toe syndactyly, Rhizomelia, Optic atrophy, Finger syndactyly, Microgn... |
ORPHA:818 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Pedal edema, Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Hip dysplasia, Hypo... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Pedal edema, Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Hip dysplasia, Hypo... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Pedal edema, Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Hip dysplasia, Hypo... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Pedal edema, Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Hip dysplasia, Hypo... |
ORPHA:177901 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair |
OMIM:609734 |
Chédiak-Higashi Syndrome |
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Hypopigmentation of the skin, Iris hypopigmentation, Large clumps of pigment irregularly distribu... |
ORPHA:167 |
Prader-Willi-Like Syndrome |
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Pedal edema, Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Hip dysplasia, Hypo... |
ORPHA:398073 |
Kinsship Syndrome |
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Polydactyly, Coxa valga, Micrognathia, Synophrys, Hip dislocation, Dislocated radial head, Hypert... |
OMIM:619297 |
Orofaciodigital Syndrome Type 4 |
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Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Charge Syndrome |
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Hand monodactyly, Micrognathia, Absent tibia, Hand polydactyly, Bifid femur, Down-sloping shoulde... |
OMIM:214800 |
Prader-Willi Syndrome |
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Hypopigmentation of the skin, Small hand, Hip dysplasia, Hypopigmentation of hair, Short foot |
ORPHA:739 |
Menkes Disease |
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Micrognathia, Woolly hair, Hypopigmentation of hair, Sparse hair, Abnormal metaphysis morphology,... |
ORPHA:565 |
Degcags Syndrome |
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Polydactyly, Genu valgum, Preaxial hand polydactyly, Abnormal eyebrow morphology, Hypopigmentatio... |
OMIM:619488 |
Cystinosis, Nephropathic |
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Pigmentary retinopathy, Genu valgum, Retinopathy, Hypopigmentation of the skin, Retinal pigment e... |
OMIM:219800 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hip subluxation, Hypoplastic toenails, Curly hair, Small hand, Micrognathia, Synophrys, Long eyel... |
ORPHA:444077 |
Syndromic Diarrhea |
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Trichorrhexis nodosa, Cafe-au-lait spot, Generalized hypopigmentation, Brittle hair, Woolly hair,... |
ORPHA:84064 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Hypopigmentat... |
ORPHA:163746 |