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HPO → 對應的病歷用詞，並附加具此 HPO 的疾病作為參考。
Short stature
HP:0004322
對應病歷用詞(2)
具此 HPO 的疾病（附加參考）(773)
- Hydrocephalus-obesity-hypogonadism syndromeORPHA:2183 · Obligate (100%)
- 12q14 microdeletion syndromeORPHA:94063 · Very frequent (99-80%)
- 14q22q23 microdeletion syndromeORPHA:264200 · Very frequent (99-80%)
- 1q41q42 microdeletion syndromeORPHA:250999 · Very frequent (99-80%)
- 2q32q33 deletion syndromeORPHA:251019 · Very frequent (99-80%)
- 3M syndromeORPHA:2616 · Very frequent (99-80%)
- 45,X/46,XY mixed gonadal dysgenesisORPHA:1772 · Very frequent (99-80%)
- 5q35 microduplication syndromeORPHA:228415 · Very frequent (99-80%)
- 8p11.2 deletion syndromeORPHA:251066 · Very frequent (99-80%)
- 8q24.3 microdeletion syndromeORPHA:508488 · Very frequent (99-80%)
- Aarskog-Scott syndromeORPHA:915 · Very frequent (99-80%)
- Acrocapitofemoral dysplasiaORPHA:63446 · Very frequent (99-80%)
- Acrocraniofacial dysostosisORPHA:949 · Very frequent (99-80%)
- Acrodermatitis enteropathicaORPHA:37 · Very frequent (99-80%)
- AcrodysostosisORPHA:950 · Very frequent (99-80%)
- Acrofacial dysostosis, Catania typeORPHA:1786 · Very frequent (99-80%)
- Acrofacial dysostosis, Palagonia typeORPHA:1787 · Very frequent (99-80%)
- Acrofrontofacionasal dysostosisORPHA:1784 · Very frequent (99-80%)
- AcrogeriaORPHA:2500 · Very frequent (99-80%)
- Alobar holoprosencephalyORPHA:93925 · Very frequent (99-80%)
- Alström syndromeORPHA:64 · Very frequent (99-80%)
- Aminopterin/methotrexate embryofetopathyORPHA:1908 · Very frequent (99-80%)
- Aniridia-renal agenesis-psychomotor retardation syndromeORPHA:1064 · Very frequent (99-80%)
- Aphalangy-syndactyly-microcephaly syndromeORPHA:1113 · Very frequent (99-80%)
- AREDYLD syndromeORPHA:1133 · Very frequent (99-80%)
- Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndromeORPHA:3145 · Very frequent (99-80%)
- Arthrogryposis multiplex congenita-whistling face syndromeORPHA:1150 · Very frequent (99-80%)
- Ataxia-photosensitivity-short stature syndromeORPHA:1184 · Very frequent (99-80%)
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndromeORPHA:1192 · Very frequent (99-80%)
- Atkin-Flaitz syndromeORPHA:1193 · Very frequent (99-80%)
- Atypical Werner syndromeORPHA:79474 · Very frequent (99-80%)
- AuriculoosteodysplasiaORPHA:114 · Very frequent (99-80%)
- Autosomal dominant brachyolmiaORPHA:93304 · Very frequent (99-80%)
- Autosomal dominant Kenny-Caffey syndromeORPHA:93325 · Very frequent (99-80%)
- Autosomal dominant primary microcephalyORPHA:2514 · Very frequent (99-80%)
- Autosomal recessive cutis laxa type 2, classic typeORPHA:357074 · Very frequent (99-80%)
- Autosomal recessive distal osteolysis syndromeORPHA:2776 · Very frequent (99-80%)
- Autosomal recessive hypophosphatemic ricketsORPHA:289176 · Very frequent (99-80%)
- Autosomal recessive omodysplasiaORPHA:93329 · Very frequent (99-80%)
- Autosomal recessive primary microcephalyORPHA:2512 · Very frequent (99-80%)
- Autosomal recessive spondylocostal dysostosisORPHA:2311 · Very frequent (99-80%)
- Axial mesodermal dysplasia spectrumORPHA:1834 · Very frequent (99-80%)
- Axial spondylometaphyseal dysplasiaORPHA:168549 · Very frequent (99-80%)
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeORPHA:75496 · Very frequent (99-80%)
- Baller-Gerold syndromeORPHA:1225 · Very frequent (99-80%)
- Bangstad syndromeORPHA:1227 · Very frequent (99-80%)
- Bannayan-Riley-Ruvalcaba syndromeORPHA:109 · Very frequent (99-80%)
- Bartter syndromeORPHA:112 · Very frequent (99-80%)
- Beta-mercaptolactate cysteine disulfiduriaORPHA:1035 · Very frequent (99-80%)
- Biemond syndrome type 2ORPHA:141333 · Very frequent (99-80%)
- Bonnemann-Meinecke-Reich syndromeORPHA:1261 · Very frequent (99-80%)
- Bowen-Conradi syndromeORPHA:1270 · Very frequent (99-80%)
- Brachydactyly type A1ORPHA:93388 · Very frequent (99-80%)
- Brachydactyly-arterial hypertension syndromeORPHA:1276 · Very frequent (99-80%)
- Brachydactyly-short stature-retinitis pigmentosa syndromeORPHA:166035 · Very frequent (99-80%)
- Brachymorphism-onychodysplasia-dysphalangism syndromeORPHA:1292 · Very frequent (99-80%)
- Brachyolmia, Maroteaux typeORPHA:93302 · Very frequent (99-80%)
- Brain malformation-congenital heart disease-postaxial polydactyly syndromeORPHA:75389 · Very frequent (99-80%)
- Branchiogenic deafness syndromeORPHA:50815 · Very frequent (99-80%)
- Bruck syndromeORPHA:2771 · Very frequent (99-80%)
- Camptodactyly syndrome, Guadalajara type 2ORPHA:1326 · Very frequent (99-80%)
- Camptodactyly-joint contractures-facial skeletal defects syndromeORPHA:1323 · Very frequent (99-80%)
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndromeORPHA:228410 · Very frequent (99-80%)
- Cardiofaciocutaneous syndromeORPHA:1340 · Very frequent (99-80%)
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeORPHA:436174 · Very frequent (99-80%)
- Cataract-intellectual disability-hypogonadism syndromeORPHA:1387 · Very frequent (99-80%)
- Cataract-nephropathy-encephalopathy syndromeORPHA:1380 · Very frequent (99-80%)
- Chondroectodermal dysplasia with night blindnessORPHA:319195 · Very frequent (99-80%)
- Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletionORPHA:261190 · Very frequent (99-80%)
- Cleft palate-large ears-small head syndromeORPHA:2013 · Very frequent (99-80%)
- Cleidocranial dysplasiaORPHA:1452 · Very frequent (99-80%)
- CODAS syndromeORPHA:1458 · Very frequent (99-80%)
- Coffin-Lowry syndromeORPHA:192 · Very frequent (99-80%)
- COFS syndromeORPHA:1466 · Very frequent (99-80%)
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeORPHA:444077 · Very frequent (99-80%)
- Cole-Carpenter syndromeORPHA:2050 · Very frequent (99-80%)
- Congenital cataracts-facial dysmorphism-neuropathy syndromeORPHA:48431 · Very frequent (99-80%)
- Congenital heart defect-round face-developmental delay syndromeORPHA:1355 · Very frequent (99-80%)
- Cornelia de Lange syndromeORPHA:199 · Very frequent (99-80%)
- Corpus callosum agenesis-abnormal genitalia syndromeORPHA:2508 · Very frequent (99-80%)
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeORPHA:52055 · Very frequent (99-80%)
- Cortical blindness-intellectual disability-polydactyly syndromeORPHA:1389 · Very frequent (99-80%)
- Costello syndromeORPHA:3071 · Very frequent (99-80%)
- Coxoauricular syndromeORPHA:1508 · Very frequent (99-80%)
- Craniodiaphyseal dysplasiaORPHA:1513 · Very frequent (99-80%)
- Craniodigital-intellectual disability syndromeORPHA:1514 · Very frequent (99-80%)
- Craniofacial dysostosis-diaphyseal hyperplasia syndromeORPHA:1798 · Very frequent (99-80%)
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeORPHA:459061 · Very frequent (99-80%)
- Craniolenticulosutural dysplasiaORPHA:50814 · Very frequent (99-80%)
- Craniosynostosis, Herrmann-Opitz typeORPHA:2145 · Very frequent (99-80%)
- Cutaneous mastocytosis-deafness-microtia syndromeORPHA:2135 · Very frequent (99-80%)
- CystinosisORPHA:213 · Very frequent (99-80%)
- Dahlberg-Borer-Newcomer syndromeORPHA:1563 · Very frequent (99-80%)
- DDOST-CDGORPHA:300536 · Very frequent (99-80%)
- De Barsy syndromeORPHA:2962 · Very frequent (99-80%)
- Deafness-epiphyseal dysplasia-short stature syndromeORPHA:3218 · Very frequent (99-80%)
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndromeORPHA:71267 · Very frequent (99-80%)
- Developmental malformations-deafness-dystonia syndromeORPHA:79107 · Very frequent (99-80%)
- Diastrophic dysplasiaORPHA:628 · Very frequent (99-80%)
- Distal 22q11.2 microdeletion syndromeORPHA:261330 · Very frequent (99-80%)
- Distal deletion 17q syndromeORPHA:1597 · Very frequent (99-80%)
- Distal deletion 1q syndromeORPHA:36367 · Very frequent (99-80%)
- Distal deletion 3p syndromeORPHA:1620 · Very frequent (99-80%)
- Distal duplication 14q syndromeORPHA:1705 · Very frequent (99-80%)
- Distal duplication 5q syndromeORPHA:96097 · Very frequent (99-80%)
- Distal duplication 6p syndromeORPHA:1745 · Very frequent (99-80%)
- Distal monosomy 7q36 syndromeORPHA:1636 · Very frequent (99-80%)
- Distal Xq28 microduplication syndromeORPHA:293939 · Very frequent (99-80%)
- Dubowitz syndromeORPHA:235 · Very frequent (99-80%)
- Duplication of the pituitary glandORPHA:314621 · Very frequent (99-80%)
- DysosteosclerosisORPHA:1782 · Very frequent (99-80%)
- Dysplastic cortical hyperostosis, Kozlowski-Tsuruta typeORPHA:2204 · Very frequent (99-80%)
- DysspondyloenchondromatosisORPHA:85198 · Very frequent (99-80%)
- Ectodermal dysplasia-blindness syndromeORPHA:1806 · Very frequent (99-80%)
- Ectodermal dysplasia-sensorineural deafness syndromeORPHA:1883 · Very frequent (99-80%)
- Eng-Strom syndromeORPHA:1937 · Very frequent (99-80%)
- Epilepsy-telangiectasia syndromeORPHA:1951 · Very frequent (99-80%)
- Epiphyseal dysplasia-hearing loss-dysmorphism syndromeORPHA:1825 · Very frequent (99-80%)
- Erythrokeratodermia variabilisORPHA:317 · Very frequent (99-80%)
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndromeORPHA:1969 · Very frequent (99-80%)
- Fanconi anemiaORPHA:84 · Very frequent (99-80%)
- Fetal alcohol syndromeORPHA:1915 · Very frequent (99-80%)
- Fetal methylmercury syndromeORPHA:1917 · Very frequent (99-80%)
- FibrochondrogenesisORPHA:2021 · Very frequent (99-80%)
- Fibular aplasia-complex brachydactyly syndromeORPHA:2639 · Very frequent (99-80%)
- Floating-Harbor syndromeORPHA:2044 · Very frequent (99-80%)
- Frontofacionasal dysplasiaORPHA:1791 · Very frequent (99-80%)
- Fryns-Smeets-Thiry syndromeORPHA:2058 · Very frequent (99-80%)
- GAPO syndromeORPHA:2067 · Very frequent (99-80%)
- Geleophysic dysplasiaORPHA:2623 · Very frequent (99-80%)
- Gemignani syndromeORPHA:2074 · Very frequent (99-80%)
- German syndromeORPHA:2077 · Very frequent (99-80%)
- Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndromeORPHA:2084 · Very frequent (99-80%)
- Glycogen storage disease due to glucose-6-phosphatase deficiencyORPHA:364 · Very frequent (99-80%)
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IbORPHA:79259 · Very frequent (99-80%)
- Glycogen storage disease due to glycogen debranching enzyme deficiencyORPHA:366 · Very frequent (99-80%)
- GM2 gangliosidosis, AB variantORPHA:309246 · Very frequent (99-80%)
- GMS syndromeORPHA:2090 · Very frequent (99-80%)
- Goldberg-Shprintzen megacolon syndromeORPHA:66629 · Very frequent (99-80%)
- Gómez-López-Hernández syndromeORPHA:1532 · Very frequent (99-80%)
- Gorlin-Chaudhry-Moss syndromeORPHA:2095 · Very frequent (99-80%)
- Growth delay due to insulin-like growth factor I resistanceORPHA:73273 · Very frequent (99-80%)
- Growth delay due to insulin-like growth factor type 1 deficiencyORPHA:73272 · Very frequent (99-80%)
- Hajdu-Cheney syndromeORPHA:955 · Very frequent (99-80%)
- Hall-Riggs syndromeORPHA:2107 · Very frequent (99-80%)
- Hamel cerebro-palato-cardiac syndromeORPHA:93946 · Very frequent (99-80%)
- Holoprosencephaly-craniosynostosis syndromeORPHA:2163 · Very frequent (99-80%)
- Hoyeraal-Hreidarsson syndromeORPHA:3322 · Very frequent (99-80%)
- Hurler-Scheie syndromeORPHA:93476 · Very frequent (99-80%)
- Hyaluronidase deficiencyORPHA:67041 · Very frequent (99-80%)
- Hypogonadism-mitral valve prolapse-intellectual disability syndromeORPHA:2233 · Very frequent (99-80%)
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndromeORPHA:293967 · Very frequent (99-80%)
- Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndromeORPHA:1882 · Very frequent (99-80%)
- Hypotrichosis with juvenile macular degenerationORPHA:1573 · Very frequent (99-80%)
- ICF syndromeORPHA:2268 · Very frequent (99-80%)
- Infantile Refsum diseaseORPHA:772 · Very frequent (99-80%)
- Intellectual disability-myopathy-short stature-endocrine defect syndromeORPHA:3068 · Very frequent (99-80%)
- Intellectual disability-polydactyly-uncombable hair syndromeORPHA:3082 · Very frequent (99-80%)
- Intellectual disability, Buenos-Aires typeORPHA:3079 · Very frequent (99-80%)
- Intrauterine growth restriction-short stature-early adult-onset diabetes syndromeORPHA:436144 · Very frequent (99-80%)
- Isolated congenital laryngeal webORPHA:2374 · Very frequent (99-80%)
- Isolated glycerol kinase deficiencyORPHA:408 · Very frequent (99-80%)
- Johanson-Blizzard syndromeORPHA:2315 · Very frequent (99-80%)
- Juvenile Paget diseaseORPHA:2801 · Very frequent (99-80%)
- Larsen-like osseous dysplasia-short stature syndromeORPHA:2370 · Very frequent (99-80%)
- Legg-Calvé-Perthes diseaseORPHA:2380 · Very frequent (99-80%)
- Lethal congenital contracture syndrome type 1ORPHA:1486 · Very frequent (99-80%)
- Leukocyte adhesion deficiency type IIORPHA:99843 · Very frequent (99-80%)
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndromeORPHA:1816 · Very frequent (99-80%)
- Lipodystrophy-intellectual disability-deafness syndromeORPHA:50811 · Very frequent (99-80%)
- Lowry-Wood syndromeORPHA:1824 · Very frequent (99-80%)
- Mandibuloacral dysplasia with type A lipodystrophyORPHA:90153 · Very frequent (99-80%)
- Mandibulofacial dysostosis-microcephaly syndromeORPHA:79113 · Very frequent (99-80%)
- Marshall syndromeORPHA:560 · Very frequent (99-80%)
- MASA syndromeORPHA:2466 · Very frequent (99-80%)
- Maternal hyperthermia-induced birth defectsORPHA:2216 · Very frequent (99-80%)
- Maternal uniparental disomy of chromosome X syndromeORPHA:261519 · Very frequent (99-80%)
- Mayer-Rokitansky-Küster-Hauser syndrome type 2ORPHA:2578 · Very frequent (99-80%)
- McDonough syndromeORPHA:2471 · Very frequent (99-80%)
- Melnick-Needles syndromeORPHA:2484 · Very frequent (99-80%)
- Mesomelia-synostoses syndromeORPHA:2496 · Very frequent (99-80%)
- Mesomelic dysplasia, Kantaputra typeORPHA:1836 · Very frequent (99-80%)
- Mesomelic dysplasia, Savarirayan typeORPHA:85170 · Very frequent (99-80%)
- Metaphyseal anadysplasiaORPHA:1040 · Very frequent (99-80%)
- Mevalonic aciduriaORPHA:29 · Very frequent (99-80%)
- Micro syndromeORPHA:2510 · Very frequent (99-80%)
- Microcephalic osteodysplastic dysplasia, Saul-Wilson typeORPHA:85172 · Very frequent (99-80%)
- Microcephaly-brachydactyly-kyphoscoliosis syndromeORPHA:3433 · Very frequent (99-80%)
- Microcephaly-cervical spine fusion anomalies syndromeORPHA:2522 · Very frequent (99-80%)
- Microcephaly-microcornea syndrome, Seemanova typeORPHA:2528 · Very frequent (99-80%)
- Microtriplication 11q24.1 syndromeORPHA:289522 · Very frequent (99-80%)
- Midline interhemispheric variant of holoprosencephalyORPHA:93926 · Very frequent (99-80%)
- Mirror polydactyly-vertebral segmentation-limbs defects syndromeORPHA:3004 · Very frequent (99-80%)
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaORPHA:1933 · Very frequent (99-80%)
- Monosomy 13q14 syndromeORPHA:1587 · Very frequent (99-80%)
- Monosomy 18p syndromeORPHA:1598 · Very frequent (99-80%)
- Monosomy X syndromeORPHA:99226 · Very frequent (99-80%)
- Mosaic monosomy X syndromeORPHA:99228 · Very frequent (99-80%)
- Mosaic variegated aneuploidy syndromeORPHA:1052 · Very frequent (99-80%)
- Mucolipidosis type IIORPHA:576 · Very frequent (99-80%)
- Mucolipidosis type IIIORPHA:577 · Very frequent (99-80%)
- Mucolipidosis type III alpha/betaORPHA:423461 · Very frequent (99-80%)
- Mucopolysaccharidosis type 1ORPHA:579 · Very frequent (99-80%)
- Mucopolysaccharidosis type 2ORPHA:580 · Very frequent (99-80%)
- Mucopolysaccharidosis type 4ORPHA:582 · Very frequent (99-80%)
- Mulibrey nanismORPHA:2576 · Very frequent (99-80%)
- Müllerian aplasia and hyperandrogenismORPHA:247768 · Very frequent (99-80%)
- Multiple epiphyseal dysplasia, Lowry typeORPHA:166016 · Very frequent (99-80%)
- Muscular pseudohypertrophy-hypothyroidism syndromeORPHA:2349 · Very frequent (99-80%)
- Nail-patella-like renal diseaseORPHA:2613 · Very frequent (99-80%)
- Nathalie syndromeORPHA:2663 · Very frequent (99-80%)
- Neonatal adrenoleukodystrophyORPHA:44 · Very frequent (99-80%)
- Neonatal severe primary hyperparathyroidismORPHA:417 · Very frequent (99-80%)
- Neurofaciodigitorenal syndromeORPHA:2673 · Very frequent (99-80%)
- Neurofibromatosis-Noonan syndromeORPHA:638 · Very frequent (99-80%)
- Nijmegen breakage syndromeORPHA:647 · Very frequent (99-80%)
- Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndromeORPHA:231720 · Very frequent (99-80%)
- Non-acquired isolated growth hormone deficiencyORPHA:631 · Very frequent (99-80%)
- Non-distal duplication 10q syndromeORPHA:1695 · Very frequent (99-80%)
- Noonan syndromeORPHA:648 · Very frequent (99-80%)
- Noonan syndrome-like disorder with loose anagen hairORPHA:2701 · Very frequent (99-80%)
- Oculocerebral hypopigmentation syndrome, Cross typeORPHA:2719 · Very frequent (99-80%)
- Oculocerebral hypopigmentation syndrome, Preus typeORPHA:2720 · Very frequent (99-80%)
- Oculocerebrorenal syndrome of LoweORPHA:534 · Very frequent (99-80%)
- OdontochondrodysplasiaORPHA:166272 · Very frequent (99-80%)
- Osteoporosis-oculocutaneous hypopigmentation syndromeORPHA:2786 · Very frequent (99-80%)
- Otofaciocervical syndromeORPHA:2792 · Very frequent (99-80%)
- Oxoglutaric aciduriaORPHA:31 · Very frequent (99-80%)
- Pallister-Killian syndromeORPHA:884 · Very frequent (99-80%)
- Paternal uniparental disomy of chromosome X syndromeORPHA:261524 · Very frequent (99-80%)
- Pectus excavatum-macrocephaly-dysplastic nails syndromeORPHA:2835 · Very frequent (99-80%)
- Pelviscapular dysplasiaORPHA:93333 · Very frequent (99-80%)
- Pituitary stalk interruption syndromeORPHA:95496 · Very frequent (99-80%)
- Polyneuropathy-intellectual disability-acromicria-premature menopause syndromeORPHA:2928 · Very frequent (99-80%)
- Prader-Willi syndromeORPHA:739 · Very frequent (99-80%)
- Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiencyORPHA:90023 · Very frequent (99-80%)
- Progeria-short stature-pigmented nevi syndromeORPHA:2959 · Very frequent (99-80%)
- Progeroid syndrome, Petty typeORPHA:2963 · Very frequent (99-80%)
- Progressive familial intrahepatic cholestasisORPHA:172 · Very frequent (99-80%)
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeORPHA:457395 · Very frequent (99-80%)
- Proximal 16p11.2 microduplication syndromeORPHA:370079 · Very frequent (99-80%)
- Proximal Xq28 duplication syndromeORPHA:1762 · Very frequent (99-80%)
- Pseudohypoparathyroidism type 1AORPHA:79443 · Very frequent (99-80%)
- Pseudoprogeria syndromeORPHA:2985 · Very frequent (99-80%)
- Radioulnar synostosis-microcephaly-scoliosis syndromeORPHA:3268 · Very frequent (99-80%)
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndromeORPHA:3085 · Very frequent (99-80%)
- Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeORPHA:436245 · Very frequent (99-80%)
- Rhizomelic chondrodysplasia punctataORPHA:177 · Very frequent (99-80%)
- Rhizomelic syndrome, Urbach typeORPHA:3098 · Very frequent (99-80%)
- Richieri Costa-da Silva syndromeORPHA:3101 · Very frequent (99-80%)
- RIDDLE syndromeORPHA:420741 · Very frequent (99-80%)
- Ring chromosome 15 syndromeORPHA:96177 · Very frequent (99-80%)
- Ring chromosome 6 syndromeORPHA:1448 · Very frequent (99-80%)
- Ring chromosome 7 syndromeORPHA:1449 · Very frequent (99-80%)
- Robinow syndromeORPHA:97360 · Very frequent (99-80%)
- Rubinstein-Taybi syndromeORPHA:783 · Very frequent (99-80%)
- Sagliker syndromeORPHA:300493 · Very frequent (99-80%)
- Sanjad-Sakati syndromeORPHA:2323 · Very frequent (99-80%)
- Satoyoshi syndromeORPHA:3130 · Very frequent (99-80%)
- Schimke immuno-osseous dysplasiaORPHA:1830 · Very frequent (99-80%)
- Schwartz-Jampel syndromeORPHA:800 · Very frequent (99-80%)
- Seckel syndromeORPHA:808 · Very frequent (99-80%)
- Semilobar holoprosencephalyORPHA:220386 · Very frequent (99-80%)
- Senior-Loken syndromeORPHA:3156 · Very frequent (99-80%)
- Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiencyORPHA:329249 · Very frequent (99-80%)
- Short fifth metacarpals-insulin resistance syndromeORPHA:66518 · Very frequent (99-80%)
- Short stature due to GHSR deficiencyORPHA:314811 · Very frequent (99-80%)
- Short stature due to partial GHR deficiencyORPHA:314802 · Very frequent (99-80%)
- Short stature due to primary acid-labile subunit deficiencyORPHA:140941 · Very frequent (99-80%)
- Short stature-craniofacial anomalies-genital hypoplasia syndromeORPHA:2994 · Very frequent (99-80%)
- Short stature-wormian bones-dextrocardia syndromeORPHA:2863 · Very frequent (99-80%)
- Short stature, Brussels typeORPHA:2867 · Very frequent (99-80%)
- SHOX-related short statureORPHA:314795 · Very frequent (99-80%)
- Sialidosis type 1ORPHA:812 · Very frequent (99-80%)
- Sialidosis type 2ORPHA:87876 · Very frequent (99-80%)
- Silver-Russell syndromeORPHA:813 · Very frequent (99-80%)
- Silver-Russell syndrome due to an imprinting defect of 11p15ORPHA:231140 · Very frequent (99-80%)
- Skeletal dysplasia-epilepsy-short stature syndromeORPHA:1858 · Very frequent (99-80%)
- Smith-Lemli-Opitz syndromeORPHA:818 · Very frequent (99-80%)
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic typeORPHA:93360 · Very frequent (99-80%)
- Spondyloepimetaphyseal dysplasia, matrilin-3 typeORPHA:156728 · Very frequent (99-80%)
- Spondylometaphyseal dysplasia, 'corner fracture' typeORPHA:93315 · Very frequent (99-80%)
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeORPHA:391487 · Very frequent (99-80%)
- Stimmler syndromeORPHA:3199 · Very frequent (99-80%)
- Stormorken-Sjaastad-Langslet syndromeORPHA:3204 · Very frequent (99-80%)
- Stüve-Wiedemann syndromeORPHA:3206 · Very frequent (99-80%)
- Subaortic stenosis-short stature syndromeORPHA:3191 · Very frequent (99-80%)
- Syndactyly-telecanthus-anogenital and renal malformations syndromeORPHA:140952 · Very frequent (99-80%)
- Tarsal-carpal coalition syndromeORPHA:1412 · Very frequent (99-80%)
- Thanatophoric dysplasia type 2ORPHA:93274 · Very frequent (99-80%)
- Thoracic dysplasia-hydrocephalus syndromeORPHA:1861 · Very frequent (99-80%)
- Tibial hemimelia-polysyndactyly-triphalangeal thumb syndromeORPHA:988 · Very frequent (99-80%)
- Toluene embryopathyORPHA:1920 · Very frequent (99-80%)
- Trichorhinophalangeal syndrome type 1ORPHA:77258 · Very frequent (99-80%)
- Trichorhinophalangeal syndrome type 2ORPHA:502 · Very frequent (99-80%)
- Trigonocephaly-short stature-developmental delay syndromeORPHA:3369 · Very frequent (99-80%)
- Trismus-pseudocamptodactyly syndromeORPHA:3377 · Very frequent (99-80%)
- Trisomy 17p syndromeORPHA:261290 · Very frequent (99-80%)
- Trisomy 18 syndromeORPHA:3380 · Very frequent (99-80%)
- Trisomy 4p syndromeORPHA:1738 · Very frequent (99-80%)
- Trisomy 5p syndromeORPHA:1742 · Very frequent (99-80%)
- Turner syndromeORPHA:881 · Very frequent (99-80%)
- Turner syndrome due to structural X chromosome anomaliesORPHA:99413 · Very frequent (99-80%)
- Velo-facial-skeletal syndromeORPHA:3424 · Very frequent (99-80%)
- Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndromeORPHA:3201 · Very frequent (99-80%)
- Vici syndromeORPHA:1493 · Very frequent (99-80%)
- Weill-Marchesani syndromeORPHA:3449 · Very frequent (99-80%)
- Werner syndromeORPHA:902 · Very frequent (99-80%)
- White matter hypoplasia-corpus callosum agenesis-intellectual disability syndromeORPHA:3207 · Very frequent (99-80%)
- Wiedemann-Rautenstrauch syndromeORPHA:3455 · Very frequent (99-80%)
- Williams syndromeORPHA:904 · Very frequent (99-80%)
- Wilson-Turner syndromeORPHA:3459 · Very frequent (99-80%)
- Wolcott-Rallison syndromeORPHA:1667 · Very frequent (99-80%)
- Wrinkly skin syndromeORPHA:2834 · Very frequent (99-80%)
- X-linked agammaglobulinemiaORPHA:47 · Very frequent (99-80%)
- X-linked dominant chondrodysplasia, Chassaing-Lacombe typeORPHA:163966 · Very frequent (99-80%)
- X-linked Ehlers-Danlos syndromeORPHA:75497 · Very frequent (99-80%)
- X-linked intellectual disability with isolated growth hormone deficiencyORPHA:67045 · Very frequent (99-80%)
- X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndromeORPHA:3055 · Very frequent (99-80%)
- X-linked intellectual disability, Abidi typeORPHA:85273 · Very frequent (99-80%)
- X-linked intellectual disability, Armfield typeORPHA:85276 · Very frequent (99-80%)
- X-linked intellectual disability, Cilliers typeORPHA:163971 · Very frequent (99-80%)
- X-linked intellectual disability, Golabi-Ito-Hall typeORPHA:93947 · Very frequent (99-80%)
- X-linked intellectual disability, Shrimpton typeORPHA:85324 · Very frequent (99-80%)
- X-linked intellectual disability, Van Esch typeORPHA:163976 · Very frequent (99-80%)
- X-linked mandibulofacial dysostosisORPHA:1131 · Very frequent (99-80%)
- X-linked skeletal dysplasia-intellectual disability syndromeORPHA:1436 · Very frequent (99-80%)
- Xeroderma pigmentosum-Cockayne syndrome complexORPHA:220295 · Very frequent (99-80%)
- Xp22.13p22.2 duplication syndromeORPHA:284180 · Very frequent (99-80%)
- Xp22.3 microdeletion syndromeORPHA:1643 · Very frequent (99-80%)
- Xq12-q13.3 duplication syndromeORPHA:314389 · Very frequent (99-80%)
- Xq27.3q28 duplication syndromeORPHA:261483 · Very frequent (99-80%)
- Zellweger syndromeORPHA:912 · Very frequent (99-80%)
- 13q12.3 microdeletion syndromeORPHA:412035 · Frequent (79-30%)
- 15q24 microdeletion syndromeORPHA:94065 · Frequent (79-30%)
- 16p11.2p12.2 microdeletion syndromeORPHA:261211 · Frequent (79-30%)
- 16p13.11 microdeletion syndromeORPHA:261236 · Frequent (79-30%)
- 17q11.2 microduplication syndromeORPHA:139474 · Frequent (79-30%)
- 17q12 microdeletion syndromeORPHA:261265 · Frequent (79-30%)
- 17q23.1q23.2 microdeletion syndromeORPHA:261279 · Frequent (79-30%)
- 1q21.1 microdeletion syndromeORPHA:250989 · Frequent (79-30%)
- 1q44 microdeletion syndromeORPHA:238769 · Frequent (79-30%)
- 20p12.3 microdeletion syndromeORPHA:261295 · Frequent (79-30%)
- 21q22.11q22.12 microdeletion syndromeORPHA:261323 · Frequent (79-30%)
- 22q11.2 deletion syndromeORPHA:567 · Frequent (79-30%)
- 2q23.1 microdeletion syndromeORPHA:228402 · Frequent (79-30%)
- 2q31.1 microdeletion syndromeORPHA:251014 · Frequent (79-30%)
- 2q37 microdeletion syndromeORPHA:1001 · Frequent (79-30%)
- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formORPHA:79351 · Frequent (79-30%)
- 3C syndromeORPHA:7 · Frequent (79-30%)
- 46,XY difference of sex development due to isolated 17,20-lyase deficiencyORPHA:90796 · Frequent (79-30%)
- 4H leukodystrophyORPHA:289494 · Frequent (79-30%)
- 6q25.2q25.3 microdeletion syndromeORPHA:251056 · Frequent (79-30%)
- 8p23.1 microdeletion syndromeORPHA:251071 · Frequent (79-30%)
- 9p13 microdeletion syndromeORPHA:324313 · Frequent (79-30%)
- 9q31.1q31.3 microdeletion syndromeORPHA:401923 · Frequent (79-30%)
- Abruzzo-Erickson syndromeORPHA:921 · Frequent (79-30%)
- Achondrogenesis type 2ORPHA:93296 · Frequent (79-30%)
- Acrootoocular syndromeORPHA:2980 · Frequent (79-30%)
- Activated PI3K-delta syndrome 2ORPHA:693681 · Frequent (79-30%)
- AdrenomyodystrophyORPHA:977 · Frequent (79-30%)
- Ahmad syndromeORPHA:85274 · Frequent (79-30%)
- Aicardi-Goutières syndromeORPHA:51 · Frequent (79-30%)
- Albers-Schönberg osteopetrosisORPHA:53 · Frequent (79-30%)
- Alopecia-intellectual disability syndromeORPHA:2850 · Frequent (79-30%)
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16ORPHA:98791 · Frequent (79-30%)
- Andersen-Tawil syndromeORPHA:37553 · Frequent (79-30%)
- ANE syndromeORPHA:157954 · Frequent (79-30%)
- Angel-shaped phalango-epiphyseal dysplasiaORPHA:63442 · Frequent (79-30%)
- Apparent mineralocorticoid excessORPHA:320 · Frequent (79-30%)
- Arthrochalasia Ehlers-Danlos syndromeORPHA:1899 · Frequent (79-30%)
- Arthrogryposis-like hand anomaly-sensorineural deafness syndromeORPHA:1144 · Frequent (79-30%)
- Ataxia-telangiectasiaORPHA:100 · Frequent (79-30%)
- AthyreosisORPHA:95713 · Frequent (79-30%)
- Autism spectrum disorder due to AUTS2 deficiencyORPHA:352490 · Frequent (79-30%)
- Autosomal dominant mitochondrial myopathy with exercise intoleranceORPHA:457050 · Frequent (79-30%)
- Autosomal dominant Robinow syndromeORPHA:3107 · Frequent (79-30%)
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndromeORPHA:363429 · Frequent (79-30%)
- Autosomal recessive chorioretinopathy-microcephaly syndromeORPHA:2518 · Frequent (79-30%)
- Autosomal recessive faciodigitogenital syndromeORPHA:1974 · Frequent (79-30%)
- Autosomal recessive multiple pterygium syndromeORPHA:2990 · Frequent (79-30%)
- Autosomal recessive spastic paraplegia type 20ORPHA:101000 · Frequent (79-30%)
- Autosomal recessive spastic paraplegia type 63ORPHA:401805 · Frequent (79-30%)
- Autosomal spastic paraplegia type 58ORPHA:397946 · Frequent (79-30%)
- Aymé-Gripp syndromeORPHA:1272 · Frequent (79-30%)
- Bardet-Biedl syndromeORPHA:110 · Frequent (79-30%)
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndromeORPHA:2057 · Frequent (79-30%)
- Bohring-Opitz syndromeORPHA:97297 · Frequent (79-30%)
- Brachydactyly type A4ORPHA:93394 · Frequent (79-30%)
- Brachydactyly type EORPHA:93387 · Frequent (79-30%)
- Braddock syndromeORPHA:52047 · Frequent (79-30%)
- Branchio-oculo-facial syndromeORPHA:1297 · Frequent (79-30%)
- C syndromeORPHA:1308 · Frequent (79-30%)
- Campomelic dysplasiaORPHA:140 · Frequent (79-30%)
- Camptodactyly syndrome, Guadalajara type 1ORPHA:1327 · Frequent (79-30%)
- Cardiocranial syndrome, Pfeiffer typeORPHA:2872 · Frequent (79-30%)
- Carey-Fineman-Ziter syndromeORPHA:1358 · Frequent (79-30%)
- Cat-eye syndromeORPHA:195 · Frequent (79-30%)
- Cataract-aberrant oral frenula-growth delay syndromeORPHA:1373 · Frequent (79-30%)
- Cataract-ataxia-deafness syndromeORPHA:1368 · Frequent (79-30%)
- Cataract-deafness-hypogonadism syndromeORPHA:1383 · Frequent (79-30%)
- Caudal appendage-deafness syndromeORPHA:1123 · Frequent (79-30%)
- Cerebrocostomandibular syndromeORPHA:1393 · Frequent (79-30%)
- Cerebrofaciothoracic dysplasiaORPHA:1394 · Frequent (79-30%)
- CHARGE syndromeORPHA:138 · Frequent (79-30%)
- Chronic visceral acid sphingomyelinase deficiencyORPHA:77293 · Frequent (79-30%)
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiencyORPHA:90794 · Frequent (79-30%)
- Classic multiminicore myopathyORPHA:324604 · Frequent (79-30%)
- Cleft palate-short stature-vertebral anomalies syndromeORPHA:2015 · Frequent (79-30%)
- COG5-CDGORPHA:263487 · Frequent (79-30%)
- Cohen syndromeORPHA:193 · Frequent (79-30%)
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyORPHA:90795 · Frequent (79-30%)
- Congenital amegakaryocytic thrombocytopeniaORPHA:3319 · Frequent (79-30%)
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeORPHA:508542 · Frequent (79-30%)
- Congenital rubella syndromeORPHA:290 · Frequent (79-30%)
- Congenital short bowel syndromeORPHA:2301 · Frequent (79-30%)
- Congenital unilateral hypoplasia of depressor anguli orisORPHA:1166 · Frequent (79-30%)
- Cooper-Jabs syndromeORPHA:1488 · Frequent (79-30%)
- Deafness-enamel hypoplasia-nail defects syndromeORPHA:3220 · Frequent (79-30%)
- Deafness-intellectual disability syndrome, Martin-Probst typeORPHA:85321 · Frequent (79-30%)
- Distal deletion 10p syndromeORPHA:1580 · Frequent (79-30%)
- Distal deletion 15q syndromeORPHA:1596 · Frequent (79-30%)
- Distal duplication 17q syndromeORPHA:3379 · Frequent (79-30%)
- Distal renal tubular acidosisORPHA:18 · Frequent (79-30%)
- Double outlet right ventricleORPHA:3426 · Frequent (79-30%)
- Down syndromeORPHA:870 · Frequent (79-30%)
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionORPHA:268261 · Frequent (79-30%)
- Dysequilibrium syndromeORPHA:1766 · Frequent (79-30%)
- Dyskeratosis congenitaORPHA:1775 · Frequent (79-30%)
- Dysmorphism-short stature-deafness-difference of sex development syndromeORPHA:2282 · Frequent (79-30%)
- Dystonia 28ORPHA:589618 · Frequent (79-30%)
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeORPHA:505237 · Frequent (79-30%)
- Eiken syndromeORPHA:79106 · Frequent (79-30%)
- Ermine phenotypeORPHA:999 · Frequent (79-30%)
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndromeORPHA:1964 · Frequent (79-30%)
- Fabry diseaseORPHA:324 · Frequent (79-30%)
- Familial benign copper deficiencyORPHA:1551 · Frequent (79-30%)
- Familial clubfoot due to 17q23.1q23.2 microduplicationORPHA:238578 · Frequent (79-30%)
- FATCO syndromeORPHA:2492 · Frequent (79-30%)
- Fatty acyl-CoA reductase 1 deficiencyORPHA:438178 · Frequent (79-30%)
- Feingold syndromeORPHA:1305 · Frequent (79-30%)
- Feingold syndrome type 2ORPHA:391646 · Frequent (79-30%)
- Femoral-facial syndromeORPHA:1988 · Frequent (79-30%)
- Fetal hydantoin syndromeORPHA:1912 · Frequent (79-30%)
- FG syndrome type 1ORPHA:93932 · Frequent (79-30%)
- Filippi syndromeORPHA:3255 · Frequent (79-30%)
- Focal dermal hypoplasiaORPHA:2092 · Frequent (79-30%)
- FOXG1 syndromeORPHA:561854 · Frequent (79-30%)
- FRAXE intellectual disabilityORPHA:100973 · Frequent (79-30%)
- Freeman-Sheldon syndromeORPHA:2053 · Frequent (79-30%)
- Galloway-Mowat syndromeORPHA:2065 · Frequent (79-30%)
- GM1 gangliosidosisORPHA:354 · Frequent (79-30%)
- Grant syndromeORPHA:2097 · Frequent (79-30%)
- H syndromeORPHA:168569 · Frequent (79-30%)
- Hao-Fountain syndrome due to 16p13.2 microdeletionORPHA:500055 · Frequent (79-30%)
- Hardikar syndromeORPHA:1415 · Frequent (79-30%)
- Hepatic fibrosis-renal cysts-intellectual disability syndromeORPHA:2031 · Frequent (79-30%)
- Hereditary bullous dystrophy, macular typeORPHA:1867 · Frequent (79-30%)
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutationORPHA:320385 · Frequent (79-30%)
- Hurler syndromeORPHA:93473 · Frequent (79-30%)
- Hypergonadotropic hypogonadism-cataract syndromeORPHA:2410 · Frequent (79-30%)
- HyperlysinemiaORPHA:2203 · Frequent (79-30%)
- Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndromeORPHA:2435 · Frequent (79-30%)
- Hypocalcemic vitamin D-dependent ricketsORPHA:289157 · Frequent (79-30%)
- Hypocalcemic vitamin D-resistant ricketsORPHA:93160 · Frequent (79-30%)
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndromeORPHA:2235 · Frequent (79-30%)
- HypophosphatasiaORPHA:436 · Frequent (79-30%)
- Hypotonia-speech impairment-severe cognitive delay syndromeORPHA:371364 · Frequent (79-30%)
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaORPHA:52430 · Frequent (79-30%)
- Infantile-onset autosomal recessive nonprogressive cerebellar ataxiaORPHA:284332 · Frequent (79-30%)
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeORPHA:508498 · Frequent (79-30%)
- Intellectual disability-cataracts-calcified pinnae-myopathy syndromeORPHA:3042 · Frequent (79-30%)
- Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndromeORPHA:314575 · Frequent (79-30%)
- Intellectual disability-muscle weakness-short stature-facial dysmorphism syndromeORPHA:457365 · Frequent (79-30%)
- Intellectual disability-strabismus syndromeORPHA:363528 · Frequent (79-30%)
- Isolated sedoheptulokinase deficiencyORPHA:440713 · Frequent (79-30%)
- Jacobsen syndromeORPHA:2308 · Frequent (79-30%)
- Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndromeORPHA:445062 · Frequent (79-30%)
- Kabuki syndromeORPHA:2322 · Frequent (79-30%)
- Kallmann syndrome-heart disease syndromeORPHA:2326 · Frequent (79-30%)
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndromeORPHA:457193 · Frequent (79-30%)
- KBG syndromeORPHA:2332 · Frequent (79-30%)
- KDM5C-related syndromic X-linked intellectual disabilityORPHA:85279 · Frequent (79-30%)
- Laron syndrome with immunodeficiencyORPHA:220465 · Frequent (79-30%)
- Larynx atresiaORPHA:1202 · Frequent (79-30%)
- Laurence-Moon syndromeORPHA:2377 · Frequent (79-30%)
- Lobar holoprosencephalyORPHA:93924 · Frequent (79-30%)
- Maffucci syndromeORPHA:163634 · Frequent (79-30%)
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndromeORPHA:2234 · Frequent (79-30%)
- Mandibuloacral dysplasia with type B lipodystrophyORPHA:90154 · Frequent (79-30%)
- Maternal uniparental disomy of chromosome 1 syndromeORPHA:251009 · Frequent (79-30%)
- Maternal uniparental disomy of chromosome 20 syndromeORPHA:96186 · Frequent (79-30%)
- Maternal uniparental disomy of chromosome 4 syndromeORPHA:96180 · Frequent (79-30%)
- Megalocornea-intellectual disability syndromeORPHA:2479 · Frequent (79-30%)
- MELASORPHA:550 · Frequent (79-30%)
- MEND syndromeORPHA:401973 · Frequent (79-30%)
- MERRFORPHA:551 · Frequent (79-30%)
- Metaphyseal chondrodysplasia, Rosenberg typeORPHA:1837 · Frequent (79-30%)
- Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduriaORPHA:99646 · Frequent (79-30%)
- Microcephalic primordial dwarfism, Dauber typeORPHA:319675 · Frequent (79-30%)
- Microcephaly-cardiomyopathy syndromeORPHA:2515 · Frequent (79-30%)
- Microcephaly-deafness-intellectual disability syndromeORPHA:2533 · Frequent (79-30%)
- Microform holoprosencephalyORPHA:280200 · Frequent (79-30%)
- Microphthalmia with limb anomaliesORPHA:1106 · Frequent (79-30%)
- Microphthalmia, Lenz typeORPHA:568 · Frequent (79-30%)
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeORPHA:502423 · Frequent (79-30%)
- MOMO syndromeORPHA:2563 · Frequent (79-30%)
- Monosomy 18q syndromeORPHA:1600 · Frequent (79-30%)
- Monosomy 5p syndromeORPHA:281 · Frequent (79-30%)
- Mosaic trisomy 3 syndromeORPHA:100071 · Frequent (79-30%)
- Mowat-Wilson syndromeORPHA:2152 · Frequent (79-30%)
- Mowat-Wilson syndrome due to a ZEB2 point mutationORPHA:261552 · Frequent (79-30%)
- Mowat-Wilson syndrome due to monosomy 2q22ORPHA:261537 · Frequent (79-30%)
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeORPHA:280679 · Frequent (79-30%)
- Müllerian duct anomalies-limb anomalies syndromeORPHA:2491 · Frequent (79-30%)
- Multiminicore myopathyORPHA:598 · Frequent (79-30%)
- Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndromeORPHA:166024 · Frequent (79-30%)
- Multiple osteochondromasORPHA:321 · Frequent (79-30%)
- Multiple sulfatase deficiencyORPHA:585 · Frequent (79-30%)
- NARP syndromeORPHA:644 · Frequent (79-30%)
- Native American myopathyORPHA:168572 · Frequent (79-30%)
- Neutral lipid storage disease with ichthyosisORPHA:98907 · Frequent (79-30%)
- Non-acquired panhypopituitarismORPHA:90695 · Frequent (79-30%)
- Non-syndromic bilambdoid and sagittal craniosynostosisORPHA:1516 · Frequent (79-30%)
- Noonan syndrome with multiple lentiginesORPHA:500 · Frequent (79-30%)
- Oculo-palato-cerebral syndromeORPHA:2714 · Frequent (79-30%)
- Oculoauriculovertebral spectrum with radial defectsORPHA:2549 · Frequent (79-30%)
- Oculomaxillofacial dysostosisORPHA:1794 · Frequent (79-30%)
- Oculoskeletodental syndromeORPHA:557003 · Frequent (79-30%)
- Opitz GBBB syndromeORPHA:2745 · Frequent (79-30%)
- Orofaciodigital syndrome type 2ORPHA:2751 · Frequent (79-30%)
- Orofaciodigital syndrome type 6ORPHA:2754 · Frequent (79-30%)
- OSLAM syndromeORPHA:2760 · Frequent (79-30%)
- Osteogenesis imperfectaORPHA:666 · Frequent (79-30%)
- Osteopetrosis with renal tubular acidosisORPHA:2785 · Frequent (79-30%)
- Pallister-Hall syndromeORPHA:672 · Frequent (79-30%)
- Paternal uniparental disomy of chromosome 1 syndromeORPHA:251004 · Frequent (79-30%)
- PCNA-related progressive neurodegenerative photosensitivity syndromeORPHA:438134 · Frequent (79-30%)
- Pelizaeus-Merzbacher diseaseORPHA:702 · Frequent (79-30%)
- Pelvis-shoulder dysplasiaORPHA:2839 · Frequent (79-30%)
- Pentasomy X syndromeORPHA:11 · Frequent (79-30%)
- Peters plus syndromeORPHA:709 · Frequent (79-30%)
- Pfeiffer-Palm-Teller syndromeORPHA:2871 · Frequent (79-30%)
- Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndromeORPHA:1388 · Frequent (79-30%)
- Postaxial polydactyly-dental and vertebral anomalies syndromeORPHA:2916 · Frequent (79-30%)
- Prader-Willi syndrome due to imprinting mutationORPHA:177910 · Frequent (79-30%)
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15ORPHA:98754 · Frequent (79-30%)
- Prader-Willi syndrome due to paternal 15q11q13 deletionORPHA:98793 · Frequent (79-30%)
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1ORPHA:177901 · Frequent (79-30%)
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2ORPHA:177904 · Frequent (79-30%)
- Prader-Willi syndrome due to translocationORPHA:177907 · Frequent (79-30%)
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndromeORPHA:477814 · Frequent (79-30%)
- Progressive pseudorheumatoid dysplasiaORPHA:1159 · Frequent (79-30%)
- Pseudoaminopterin syndromeORPHA:221120 · Frequent (79-30%)
- Pseudohypoparathyroidism type 1BORPHA:94089 · Frequent (79-30%)
- Pseudohypoparathyroidism type 1CORPHA:79444 · Frequent (79-30%)
- PseudopseudohypoparathyroidismORPHA:79445 · Frequent (79-30%)
- Rabson-Mendenhall syndromeORPHA:769 · Frequent (79-30%)
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndromeORPHA:293987 · Frequent (79-30%)
- RFT1-CDGORPHA:244310 · Frequent (79-30%)
- Richieri Costa-Pereira syndromeORPHA:3102 · Frequent (79-30%)
- Ring chromosome 11 syndromeORPHA:96175 · Frequent (79-30%)
- Ring chromosome 17 syndromeORPHA:1441 · Frequent (79-30%)
- Ring chromosome 18 syndromeORPHA:1442 · Frequent (79-30%)
- Ring chromosome 3 syndromeORPHA:96172 · Frequent (79-30%)
- Ring chromosome Y syndromeORPHA:261529 · Frequent (79-30%)
- Roifman syndromeORPHA:353298 · Frequent (79-30%)
- Rothmund-Thomson syndromeORPHA:2909 · Frequent (79-30%)
- Rothmund-Thomson syndrome type 1ORPHA:221008 · Frequent (79-30%)
- Rothmund-Thomson syndrome type 2ORPHA:221016 · Frequent (79-30%)
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletionORPHA:353281 · Frequent (79-30%)
- Rubinstein-Taybi syndrome due to CREBBP mutationsORPHA:353277 · Frequent (79-30%)
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyORPHA:353284 · Frequent (79-30%)
- SaccharopinuriaORPHA:3124 · Frequent (79-30%)
- Schaaf-Yang syndromeORPHA:398069 · Frequent (79-30%)
- Septo-optic dysplasia spectrumORPHA:3157 · Frequent (79-30%)
- Severe intellectual disability and progressive spastic paraplegiaORPHA:280763 · Frequent (79-30%)
- Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromeORPHA:391307 · Frequent (79-30%)
- Severe oculo-renal-cerebellar syndromeORPHA:2715 · Frequent (79-30%)
- Sheldon-Hall syndromeORPHA:1147 · Frequent (79-30%)
- Short stature-deafness-neutrophil dysfunction-dysmorphism syndromeORPHA:2866 · Frequent (79-30%)
- Short stature-webbed neck-heart disease syndromeORPHA:2865 · Frequent (79-30%)
- Shwachman-Diamond syndromeORPHA:811 · Frequent (79-30%)
- Silver-Russell syndrome due to 11p15 microduplicationORPHA:231144 · Frequent (79-30%)
- Silver-Russell syndrome due to 7p11.2p13 microduplicationORPHA:231137 · Frequent (79-30%)
- SIX2-related frontonasal dysplasiaORPHA:488437 · Frequent (79-30%)
- SLC35A2-CDGORPHA:356961 · Frequent (79-30%)
- SLC39A8-CDGORPHA:468699 · Frequent (79-30%)
- Small bowel atresiaORPHA:1201 · Frequent (79-30%)
- Smith-Magenis syndromeORPHA:819 · Frequent (79-30%)
- Spastic paraparesis-deafness syndromeORPHA:2815 · Frequent (79-30%)
- Spinocerebellar ataxia-dysmorphism syndromeORPHA:1185 · Frequent (79-30%)
- Spondylodysplastic Ehlers-Danlos syndromeORPHA:536471 · Frequent (79-30%)
- SpondyloenchondrodysplasiaORPHA:1855 · Frequent (79-30%)
- Spondyloepimetaphyseal dysplasia, Handigodu typeORPHA:99642 · Frequent (79-30%)
- Spondyloepiphyseal dysplasia tarda, Kohn typeORPHA:163665 · Frequent (79-30%)
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndromeORPHA:163654 · Frequent (79-30%)
- TELO2-related intellectual disability-neurodevelopmental disorderORPHA:488642 · Frequent (79-30%)
- Temple syndromeORPHA:254516 · Frequent (79-30%)
- Temple syndrome due to maternal uniparental disomy of chromosome 14ORPHA:96184 · Frequent (79-30%)
- Temple-Baraitser syndromeORPHA:420561 · Frequent (79-30%)
- Thalidomide embryopathyORPHA:3312 · Frequent (79-30%)
- Thyroid ectopiaORPHA:95712 · Frequent (79-30%)
- Thyroid hypoplasiaORPHA:95720 · Frequent (79-30%)
- Toriello-Carey syndromeORPHA:3338 · Frequent (79-30%)
- Tremor-ataxia-central hypomyelination syndromeORPHA:447896 · Frequent (79-30%)
- Trichohepatoenteric syndromeORPHA:84064 · Frequent (79-30%)
- Triple A syndromeORPHA:869 · Frequent (79-30%)
- Trisomy 12p syndromeORPHA:1699 · Frequent (79-30%)
- Ulnar-mammary syndromeORPHA:3138 · Frequent (79-30%)
- Ulnar/fibula ray defect-brachydactyly syndromeORPHA:52056 · Frequent (79-30%)
- Urban-Rogers-Meyer syndromeORPHA:3409 · Frequent (79-30%)
- Vogt-Koyanagi-Harada diseaseORPHA:3437 · Frequent (79-30%)
- WAGR syndromeORPHA:893 · Frequent (79-30%)
- White-Sutton syndromeORPHA:468678 · Frequent (79-30%)
- Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasiaORPHA:166277 · Frequent (79-30%)
- X-linked alpha-thalassemia-intellectual disability syndromeORPHA:847 · Frequent (79-30%)
- X-linked creatine transporter deficiencyORPHA:52503 · Frequent (79-30%)
- X-linked dominant chondrodysplasia punctataORPHA:35173 · Frequent (79-30%)
- X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityORPHA:480880 · Frequent (79-30%)
- X-linked intellectual disability-craniofacioskeletal syndromeORPHA:163979 · Frequent (79-30%)
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiencyORPHA:423479 · Frequent (79-30%)
- X-linked intellectual disability-psychosis-macroorchidism syndromeORPHA:3077 · Frequent (79-30%)
- X-linked intellectual disability-short stature-overweight syndromeORPHA:457240 · Frequent (79-30%)
- X-linked intellectual disability, Cabezas typeORPHA:85293 · Frequent (79-30%)
- X-linked intellectual disability, Porteous typeORPHA:93945 · Frequent (79-30%)
- X-linked intellectual disability, Schimke typeORPHA:85285 · Frequent (79-30%)
- X-linked intellectual disability, Stocco Dos Santos typeORPHA:85288 · Frequent (79-30%)
- X-linked intellectual disability, Stoll typeORPHA:85326 · Frequent (79-30%)
- X-linked intellectual disability, Sutherland-Haan typeORPHA:93950 · Frequent (79-30%)
- XY type gonadal dysgenesis-associated anomalies syndromeORPHA:1770 · Frequent (79-30%)
- XYLT1-CDGORPHA:370930 · Frequent (79-30%)
- Yunis-Varon syndromeORPHA:3472 · Frequent (79-30%)
- Zellweger-like syndrome without peroxisomal anomaliesORPHA:50812 · Frequent (79-30%)
- 15q11q13 microduplication syndromeORPHA:238446 · Occasional (29-5%)
- 15q13.3 microdeletion syndromeORPHA:199318 · Occasional (29-5%)
- 17p11.2 microduplication syndromeORPHA:1713 · Occasional (29-5%)
- 17q11 microdeletion syndromeORPHA:97685 · Occasional (29-5%)
- 1p36 deletion syndromeORPHA:1606 · Occasional (29-5%)
- 46,XX gonadal dysgenesisORPHA:243 · Occasional (29-5%)
- 49,XXXXY syndromeORPHA:96264 · Occasional (29-5%)
- 7q11.23 microduplication syndromeORPHA:96121 · Occasional (29-5%)
- Activated PI3K-delta syndrome 1ORPHA:693661 · Occasional (29-5%)
- Allan-Herndon-Dudley syndromeORPHA:59 · Occasional (29-5%)
- Alopecia antibody deficiencyORPHA:1006 · Occasional (29-5%)
- Amelocerebrohypohidrotic syndromeORPHA:1946 · Occasional (29-5%)
- Arginine vasopressin resistanceORPHA:223 · Occasional (29-5%)
- Aromatic L-amino acid decarboxylase deficiencyORPHA:35708 · Occasional (29-5%)
- Autosomal recessive cerebelloparenchymal disorder type 3ORPHA:1170 · Occasional (29-5%)
- Autosomal recessive spastic paraplegia type 23ORPHA:101003 · Occasional (29-5%)
- Autosomal recessive spastic paraplegia type 54ORPHA:320380 · Occasional (29-5%)
- Autosomal recessive spastic paraplegia type 9BORPHA:447760 · Occasional (29-5%)
- Bilateral generalized polymicrogyriaORPHA:208447 · Occasional (29-5%)
- Borjeson-Forssman-Lehmann syndromeORPHA:127 · Occasional (29-5%)
- Brachydactyly type CORPHA:93384 · Occasional (29-5%)
- Burn-McKeown syndromeORPHA:1200 · Occasional (29-5%)
- Cardiac-valvular Ehlers-Danlos syndromeORPHA:230851 · Occasional (29-5%)
- CEDNIK syndromeORPHA:66631 · Occasional (29-5%)
- Cerebellar ataxia-hypogonadism syndromeORPHA:1173 · Occasional (29-5%)
- Cerebrofacioarticular syndromeORPHA:314679 · Occasional (29-5%)
- Chronic neurovisceral acid sphingomyelinase deficiencyORPHA:618891 · Occasional (29-5%)
- Congenital ichthyosiform erythrodermaORPHA:79394 · Occasional (29-5%)
- Congenital limbs-face contractures-hypotonia-developmental delay syndromeORPHA:562528 · Occasional (29-5%)
- Cowden syndromeORPHA:201 · Occasional (29-5%)
- Craniofaciofrontodigital syndromeORPHA:363705 · Occasional (29-5%)
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyORPHA:369891 · Occasional (29-5%)
- Diamond-Blackfan anemiaORPHA:124 · Occasional (29-5%)
- Distal deletion 10q syndromeORPHA:96148 · Occasional (29-5%)
- Distal deletion 12q syndromeORPHA:96149 · Occasional (29-5%)
- Distal deletion 13q syndromeORPHA:1590 · Occasional (29-5%)
- Distal limb deficiencies-micrognathia syndromeORPHA:1307 · Occasional (29-5%)
- DK1-CDGORPHA:91131 · Occasional (29-5%)
- Dyschromatosis universalis hereditariaORPHA:241 · Occasional (29-5%)
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationORPHA:289266 · Occasional (29-5%)
- Ectodermal dysplasia-skin fragility syndromeORPHA:158668 · Occasional (29-5%)
- EEC syndromeORPHA:1896 · Occasional (29-5%)
- Familial isolated hypoparathyroidismORPHA:2238 · Occasional (29-5%)
- Farber diseaseORPHA:333 · Occasional (29-5%)
- Femur-fibula-ulna complexORPHA:2019 · Occasional (29-5%)
- Fibrous dysplasia of boneORPHA:249 · Occasional (29-5%)
- Fountain syndromeORPHA:3219 · Occasional (29-5%)
- Gaucher diseaseORPHA:355 · Occasional (29-5%)
- Gaucher disease type 1ORPHA:77259 · Occasional (29-5%)
- Gaucher disease type 3ORPHA:77261 · Occasional (29-5%)
- Genitopatellar syndromeORPHA:85201 · Occasional (29-5%)
- Glycogen storage disease due to hepatic glycogen synthase deficiencyORPHA:2089 · Occasional (29-5%)
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiencyORPHA:79240 · Occasional (29-5%)
- Glycogen storage disease due to liver glycogen phosphorylase deficiencyORPHA:369 · Occasional (29-5%)
- Glycogen storage disease due to liver phosphorylase kinase deficiencyORPHA:264580 · Occasional (29-5%)
- Gordon syndromeORPHA:376 · Occasional (29-5%)
- Griscelli syndromeORPHA:381 · Occasional (29-5%)
- Hartnup diseaseORPHA:2116 · Occasional (29-5%)
- Helsmoortel-Van der Aa syndromeORPHA:404448 · Occasional (29-5%)
- Hereditary acrokeratotic poikilodermaORPHA:2907 · Occasional (29-5%)
- Hereditary cryohydrocytosis with reduced stomatinORPHA:168577 · Occasional (29-5%)
- Hereditary hypophosphatemic rickets with hypercalciuriaORPHA:157215 · Occasional (29-5%)
- Hirschsprung diseaseORPHA:388 · Occasional (29-5%)
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutationORPHA:324525 · Occasional (29-5%)
- Intellectual disability-facial dysmorphism-hand anomalies syndromeORPHA:370010 · Occasional (29-5%)
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeORPHA:1495 · Occasional (29-5%)
- Isolated ATP synthase deficiencyORPHA:254913 · Occasional (29-5%)
- Jeune syndromeORPHA:474 · Occasional (29-5%)
- Joubert syndrome with Jeune asphyxiating thoracic dystrophyORPHA:397715 · Occasional (29-5%)
- Juvenile polyposis of infancyORPHA:79076 · Occasional (29-5%)
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14ORPHA:96334 · Occasional (29-5%)
- Kearns-Sayre syndromeORPHA:480 · Occasional (29-5%)
- Keipert syndromeORPHA:2662 · Occasional (29-5%)
- Keutel syndromeORPHA:85202 · Occasional (29-5%)
- Kleefstra syndromeORPHA:261494 · Occasional (29-5%)
- Kleefstra syndrome due to a point mutationORPHA:261652 · Occasional (29-5%)
- Koolen-De Vries syndromeORPHA:96169 · Occasional (29-5%)
- Larsen syndromeORPHA:503 · Occasional (29-5%)
- Legius syndromeORPHA:137605 · Occasional (29-5%)
- Leukocyte adhesion deficiencyORPHA:2968 · Occasional (29-5%)
- McKusick-Kaufman syndromeORPHA:2473 · Occasional (29-5%)
- Menke-Hennekam syndromeORPHA:592574 · Occasional (29-5%)
- Mosaic trisomy 12 syndromeORPHA:1698 · Occasional (29-5%)
- Mosaic trisomy 8 syndromeORPHA:96061 · Occasional (29-5%)
- Muckle-Wells syndromeORPHA:575 · Occasional (29-5%)
- Multiple benign circumferential skin creases on limbsORPHA:2505 · Occasional (29-5%)
- Multiple epiphyseal dysplasia due to collagen 9 anomalyORPHA:166002 · Occasional (29-5%)
- Myotonia permanensORPHA:99735 · Occasional (29-5%)
- MYT1L-related developmental delay-intellectual disability-obesity syndromeORPHA:647799 · Occasional (29-5%)
- Netherton syndromeORPHA:634 · Occasional (29-5%)
- Neuralgic amyotrophyORPHA:2901 · Occasional (29-5%)
- Neurofibromatosis type 1ORPHA:636 · Occasional (29-5%)
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionORPHA:363700 · Occasional (29-5%)
- Neutral lipid storage disease with myopathyORPHA:98908 · Occasional (29-5%)
- Non-specific early-onset epileptic encephalopathyORPHA:442835 · Occasional (29-5%)
- Non-syndromic agammaglobulinemiaORPHA:229717 · Occasional (29-5%)
- Osteoporosis-pseudoglioma syndromeORPHA:2788 · Occasional (29-5%)
- PAGOD syndromeORPHA:991 · Occasional (29-5%)
- Parana hard skin syndromeORPHA:2812 · Occasional (29-5%)
- Pelizaeus-Merzbacher disease, connatal formORPHA:280210 · Occasional (29-5%)
- Pfeiffer syndromeORPHA:710 · Occasional (29-5%)
- Pseudohypoaldosteronism type 2ORPHA:757 · Occasional (29-5%)
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndromeORPHA:438213 · Occasional (29-5%)
- Renal hypoplasia, bilateralORPHA:97362 · Occasional (29-5%)
- Ring chromosome 21 syndromeORPHA:1445 · Occasional (29-5%)
- Saethre-Chotzen syndromeORPHA:794 · Occasional (29-5%)
- Say-Barber-Miller syndromeORPHA:3132 · Occasional (29-5%)
- Short stature-delayed bone age due to thyroid hormone metabolism deficiencyORPHA:171706 · Occasional (29-5%)
- Sorsby syndromeORPHA:1471 · Occasional (29-5%)
- Spastic paraplegia-severe developmental delay-epilepsy syndromeORPHA:464282 · Occasional (29-5%)
- Spondylo-ocular syndromeORPHA:85194 · Occasional (29-5%)
- STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeORPHA:502434 · Occasional (29-5%)
- Stickler syndromeORPHA:828 · Occasional (29-5%)
- Stiff skin syndromeORPHA:2833 · Occasional (29-5%)
- Symptomatic form of Coffin-Lowry syndrome in female carriersORPHA:276630 · Occasional (29-5%)
- Syndromic recessive X-linked ichthyosisORPHA:281090 · Occasional (29-5%)
- Temtamy preaxial brachydactyly syndromeORPHA:363417 · Occasional (29-5%)
- Terminal osseous dysplasia-pigmentary defects syndromeORPHA:88630 · Occasional (29-5%)
- Thiamine-responsive megaloblastic anemia syndromeORPHA:49827 · Occasional (29-5%)
- Townes-Brocks syndromeORPHA:857 · Occasional (29-5%)
- Trisomy 18p syndromeORPHA:1715 · Occasional (29-5%)
- Wiedemann-Steiner syndromeORPHA:319182 · Occasional (29-5%)
- X-linked intellectual disability due to GRIA3 mutationsORPHA:364028 · Occasional (29-5%)
- X-linked intellectual disability-cubitus valgus-dysmorphism syndromeORPHA:85280 · Occasional (29-5%)
- X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeORPHA:85329 · Occasional (29-5%)
- Xeroderma pigmentosumORPHA:910 · Occasional (29-5%)
- Xq25 microduplication syndromeORPHA:521258 · Occasional (29-5%)
- Ataxia-telangiectasia-like disorderORPHA:251347 · Very rare (<4-1%)
- Brain-lung-thyroid syndromeORPHA:209905 · Very rare (<4-1%)
- Congenital dyserythropoietic anemia type IIIORPHA:98870 · Very rare (<4-1%)
- DYRK1A-related intellectual disability syndromeORPHA:464306 · Very rare (<4-1%)
- Feingold syndrome type 1ORPHA:391641 · Very rare (<4-1%)
- Kyphoscoliotic Ehlers-Danlos syndromeORPHA:536545 · Very rare (<4-1%)
- Optic atrophy-intellectual disability syndromeORPHA:401777 · Very rare (<4-1%)
- PGM3-CDGORPHA:443811 · Very rare (<4-1%)
- Proximal renal tubular acidosisORPHA:47159 · Very rare (<4-1%)
- Spinocerebellar ataxia type 13ORPHA:98768 · Very rare (<4-1%)
- X-linked intellectual disability, Snyder typeORPHA:3063 · Very rare (<4-1%)
- Obesity due to SIM1 deficiencyORPHA:369873 · Excluded (0%)