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病歷用詞 → 對應的 HPO，並附加具這些 HPO 的疾病作為參考。
矮小
待審核對應 HPO 表現型(2)
- Short statureHP:0004322權重 0.6待審核具此 HPO 的疾病（附加參考）：
- 12q14 microdeletion syndrome (ORPHA:94063)
- 13q12.3 microdeletion syndrome (ORPHA:412035)
- 14q22q23 microdeletion syndrome (ORPHA:264200)
- 15q11q13 microduplication syndrome (ORPHA:238446)
- 15q13.3 microdeletion syndrome (ORPHA:199318)
- 15q24 microdeletion syndrome (ORPHA:94065)
- 16p11.2p12.2 microdeletion syndrome (ORPHA:261211)
- 16p13.11 microdeletion syndrome (ORPHA:261236)
- 17p11.2 microduplication syndrome (ORPHA:1713)
- 17q11 microdeletion syndrome (ORPHA:97685)
- 17q11.2 microduplication syndrome (ORPHA:139474)
- 17q12 microdeletion syndrome (ORPHA:261265)
- 17q23.1q23.2 microdeletion syndrome (ORPHA:261279)
- 1p36 deletion syndrome (ORPHA:1606)
- 1q21.1 microdeletion syndrome (ORPHA:250989)
- 1q41q42 microdeletion syndrome (ORPHA:250999)
- 1q44 microdeletion syndrome (ORPHA:238769)
- 20p12.3 microdeletion syndrome (ORPHA:261295)
- 21q22.11q22.12 microdeletion syndrome (ORPHA:261323)
- 22q11.2 deletion syndrome (ORPHA:567)
- 2q23.1 microdeletion syndrome (ORPHA:228402)
- 2q31.1 microdeletion syndrome (ORPHA:251014)
- 2q32q33 deletion syndrome (ORPHA:251019)
- 2q37 microdeletion syndrome (ORPHA:1001)
- 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (ORPHA:79351)
- 3C syndrome (ORPHA:7)
- 3M syndrome (ORPHA:2616)
- 45,X/46,XY mixed gonadal dysgenesis (ORPHA:1772)
- 46,XX gonadal dysgenesis (ORPHA:243)
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency (ORPHA:90796)
- 49,XXXXY syndrome (ORPHA:96264)
- 4H leukodystrophy (ORPHA:289494)
- 5q35 microduplication syndrome (ORPHA:228415)
- 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
- 7q11.23 microduplication syndrome (ORPHA:96121)
- 8p11.2 deletion syndrome (ORPHA:251066)
- 8p23.1 microdeletion syndrome (ORPHA:251071)
- 8q24.3 microdeletion syndrome (ORPHA:508488)
- 9p13 microdeletion syndrome (ORPHA:324313)
- 9q31.1q31.3 microdeletion syndrome (ORPHA:401923)
- Aarskog-Scott syndrome (ORPHA:915)
- Abruzzo-Erickson syndrome (ORPHA:921)
- Achondrogenesis type 2 (ORPHA:93296)
- Acrocapitofemoral dysplasia (ORPHA:63446)
- Acrocraniofacial dysostosis (ORPHA:949)
- Acrodermatitis enteropathica (ORPHA:37)
- Acrodysostosis (ORPHA:950)
- Acrofacial dysostosis, Catania type (ORPHA:1786)
- Acrofacial dysostosis, Palagonia type (ORPHA:1787)
- Acrofrontofacionasal dysostosis (ORPHA:1784)
- Acrogeria (ORPHA:2500)
- Acrootoocular syndrome (ORPHA:2980)
- Activated PI3K-delta syndrome 1 (ORPHA:693661)
- Activated PI3K-delta syndrome 2 (ORPHA:693681)
- Adrenomyodystrophy (ORPHA:977)
- Ahmad syndrome (ORPHA:85274)
- Aicardi-Goutières syndrome (ORPHA:51)
- Albers-Schönberg osteopetrosis (ORPHA:53)
- Allan-Herndon-Dudley syndrome (ORPHA:59)
- Alobar holoprosencephaly (ORPHA:93925)
- Alopecia antibody deficiency (ORPHA:1006)
- Alopecia-intellectual disability syndrome (ORPHA:2850)
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 (ORPHA:98791)
- Alström syndrome (ORPHA:64)
- Amelocerebrohypohidrotic syndrome (ORPHA:1946)
- Aminopterin/methotrexate embryofetopathy (ORPHA:1908)
- Andersen-Tawil syndrome (ORPHA:37553)
- ANE syndrome (ORPHA:157954)
- Angel-shaped phalango-epiphyseal dysplasia (ORPHA:63442)
- Aniridia-renal agenesis-psychomotor retardation syndrome (ORPHA:1064)
- Aphalangy-syndactyly-microcephaly syndrome (ORPHA:1113)
- Apparent mineralocorticoid excess (ORPHA:320)
- AREDYLD syndrome (ORPHA:1133)
- Arginine vasopressin resistance (ORPHA:223)
- Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome (ORPHA:3145)
- Aromatic L-amino acid decarboxylase deficiency (ORPHA:35708)
- Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
- Arthrogryposis multiplex congenita-whistling face syndrome (ORPHA:1150)
- Arthrogryposis-like hand anomaly-sensorineural deafness syndrome (ORPHA:1144)
- Ataxia-photosensitivity-short stature syndrome (ORPHA:1184)
- Ataxia-telangiectasia (ORPHA:100)
- Ataxia-telangiectasia-like disorder (ORPHA:251347)
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome (ORPHA:1192)
- Athyreosis (ORPHA:95713)
- Atkin-Flaitz syndrome (ORPHA:1193)
- Atypical Werner syndrome (ORPHA:79474)
- Auriculoosteodysplasia (ORPHA:114)
- Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
- Autosomal dominant brachyolmia (ORPHA:93304)
- Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
- Autosomal dominant mitochondrial myopathy with exercise intolerance (ORPHA:457050)
- Autosomal dominant primary microcephaly (ORPHA:2514)
- Autosomal dominant Robinow syndrome (ORPHA:3107)
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (ORPHA:363429)
- Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
- Autosomal recessive chorioretinopathy-microcephaly syndrome (ORPHA:2518)
- Autosomal recessive cutis laxa type 2, classic type (ORPHA:357074)
- Autosomal recessive distal osteolysis syndrome (ORPHA:2776)
- Autosomal recessive faciodigitogenital syndrome (ORPHA:1974)
- Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
- Autosomal recessive multiple pterygium syndrome (ORPHA:2990)
- Autosomal recessive omodysplasia (ORPHA:93329)
- Autosomal recessive primary microcephaly (ORPHA:2512)
- Autosomal recessive spastic paraplegia type 20 (ORPHA:101000)
- Autosomal recessive spastic paraplegia type 23 (ORPHA:101003)
- Autosomal recessive spastic paraplegia type 54 (ORPHA:320380)
- Autosomal recessive spastic paraplegia type 63 (ORPHA:401805)
- Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
- Autosomal recessive spondylocostal dysostosis (ORPHA:2311)
- Autosomal spastic paraplegia type 58 (ORPHA:397946)
- Axial mesodermal dysplasia spectrum (ORPHA:1834)
- Axial spondylometaphyseal dysplasia (ORPHA:168549)
- Aymé-Gripp syndrome (ORPHA:1272)
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:75496)
- Baller-Gerold syndrome (ORPHA:1225)
- Bangstad syndrome (ORPHA:1227)
- Bannayan-Riley-Ruvalcaba syndrome (ORPHA:109)
- Bardet-Biedl syndrome (ORPHA:110)
- Bartter syndrome (ORPHA:112)
- Beta-mercaptolactate cysteine disulfiduria (ORPHA:1035)
- Biemond syndrome type 2 (ORPHA:141333)
- Bilateral generalized polymicrogyria (ORPHA:208447)
- Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome (ORPHA:2057)
- Bohring-Opitz syndrome (ORPHA:97297)
- Bonnemann-Meinecke-Reich syndrome (ORPHA:1261)
- Borjeson-Forssman-Lehmann syndrome (ORPHA:127)
- Bowen-Conradi syndrome (ORPHA:1270)
- Brachydactyly type A1 (ORPHA:93388)
- Brachydactyly type A4 (ORPHA:93394)
- Brachydactyly type C (ORPHA:93384)
- Brachydactyly type E (ORPHA:93387)
- Brachydactyly-arterial hypertension syndrome (ORPHA:1276)
- Brachydactyly-short stature-retinitis pigmentosa syndrome (ORPHA:166035)
- Brachymorphism-onychodysplasia-dysphalangism syndrome (ORPHA:1292)
- Brachyolmia, Maroteaux type (ORPHA:93302)
- Braddock syndrome (ORPHA:52047)
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome (ORPHA:75389)
- Brain-lung-thyroid syndrome (ORPHA:209905)
- Branchio-oculo-facial syndrome (ORPHA:1297)
- Branchiogenic deafness syndrome (ORPHA:50815)
- Bruck syndrome (ORPHA:2771)
- Burn-McKeown syndrome (ORPHA:1200)
- C syndrome (ORPHA:1308)
- Campomelic dysplasia (ORPHA:140)
- Camptodactyly syndrome, Guadalajara type 1 (ORPHA:1327)
- Camptodactyly syndrome, Guadalajara type 2 (ORPHA:1326)
- Camptodactyly-joint contractures-facial skeletal defects syndrome (ORPHA:1323)
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome (ORPHA:228410)
- Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
- Cardiocranial syndrome, Pfeiffer type (ORPHA:2872)
- Cardiofaciocutaneous syndrome (ORPHA:1340)
- Carey-Fineman-Ziter syndrome (ORPHA:1358)
- Cat-eye syndrome (ORPHA:195)
- Cataract-aberrant oral frenula-growth delay syndrome (ORPHA:1373)
- Cataract-ataxia-deafness syndrome (ORPHA:1368)
- Cataract-deafness-hypogonadism syndrome (ORPHA:1383)
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
- Cataract-intellectual disability-hypogonadism syndrome (ORPHA:1387)
- Cataract-nephropathy-encephalopathy syndrome (ORPHA:1380)
- Caudal appendage-deafness syndrome (ORPHA:1123)
- CEDNIK syndrome (ORPHA:66631)
- Cerebellar ataxia-hypogonadism syndrome (ORPHA:1173)
- Cerebrocostomandibular syndrome (ORPHA:1393)
- Cerebrofacioarticular syndrome (ORPHA:314679)
- Cerebrofaciothoracic dysplasia (ORPHA:1394)
- CHARGE syndrome (ORPHA:138)
- Chondroectodermal dysplasia with night blindness (ORPHA:319195)
- Chronic neurovisceral acid sphingomyelinase deficiency (ORPHA:618891)
- Chronic visceral acid sphingomyelinase deficiency (ORPHA:77293)
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (ORPHA:90794)
- Classic multiminicore myopathy (ORPHA:324604)
- Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion (ORPHA:261190)
- Cleft palate-large ears-small head syndrome (ORPHA:2013)
- Cleft palate-short stature-vertebral anomalies syndrome (ORPHA:2015)
- Cleidocranial dysplasia (ORPHA:1452)
- CODAS syndrome (ORPHA:1458)
- Coffin-Lowry syndrome (ORPHA:192)
- COFS syndrome (ORPHA:1466)
- COG5-CDG (ORPHA:263487)
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome (ORPHA:444077)
- Cohen syndrome (ORPHA:193)
- Cole-Carpenter syndrome (ORPHA:2050)
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (ORPHA:90795)
- Congenital amegakaryocytic thrombocytopenia (ORPHA:3319)
- Congenital cataracts-facial dysmorphism-neuropathy syndrome (ORPHA:48431)
- Congenital dyserythropoietic anemia type III (ORPHA:98870)
- Congenital heart defect-round face-developmental delay syndrome (ORPHA:1355)
- Congenital ichthyosiform erythroderma (ORPHA:79394)
- Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
- Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome (ORPHA:508542)
- Congenital rubella syndrome (ORPHA:290)
- Congenital short bowel syndrome (ORPHA:2301)
- Congenital unilateral hypoplasia of depressor anguli oris (ORPHA:1166)
- Cooper-Jabs syndrome (ORPHA:1488)
- Cornelia de Lange syndrome (ORPHA:199)
- Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome (ORPHA:52055)
- Cortical blindness-intellectual disability-polydactyly syndrome (ORPHA:1389)
- Costello syndrome (ORPHA:3071)
- Cowden syndrome (ORPHA:201)
- Coxoauricular syndrome (ORPHA:1508)
- Craniodiaphyseal dysplasia (ORPHA:1513)
- Craniodigital-intellectual disability syndrome (ORPHA:1514)
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome (ORPHA:1798)
- Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome (ORPHA:459061)
- Craniofaciofrontodigital syndrome (ORPHA:363705)
- Craniolenticulosutural dysplasia (ORPHA:50814)
- Craniosynostosis, Herrmann-Opitz type (ORPHA:2145)
- Cutaneous mastocytosis-deafness-microtia syndrome (ORPHA:2135)
- Cystinosis (ORPHA:213)
- Dahlberg-Borer-Newcomer syndrome (ORPHA:1563)
- DDOST-CDG (ORPHA:300536)
- De Barsy syndrome (ORPHA:2962)
- Deafness-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
- Deafness-epiphyseal dysplasia-short stature syndrome (ORPHA:3218)
- Deafness-intellectual disability syndrome, Martin-Probst type (ORPHA:85321)
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome (ORPHA:71267)
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency (ORPHA:369891)
- Developmental malformations-deafness-dystonia syndrome (ORPHA:79107)
- Diamond-Blackfan anemia (ORPHA:124)
- Diastrophic dysplasia (ORPHA:628)
- Distal 22q11.2 microdeletion syndrome (ORPHA:261330)
- Distal deletion 10p syndrome (ORPHA:1580)
- Distal deletion 10q syndrome (ORPHA:96148)
- Distal deletion 12q syndrome (ORPHA:96149)
- Distal deletion 13q syndrome (ORPHA:1590)
- Distal deletion 15q syndrome (ORPHA:1596)
- Distal deletion 17q syndrome (ORPHA:1597)
- Distal deletion 1q syndrome (ORPHA:36367)
- Distal deletion 3p syndrome (ORPHA:1620)
- Distal duplication 14q syndrome (ORPHA:1705)
- Distal duplication 17q syndrome (ORPHA:3379)
- Distal duplication 5q syndrome (ORPHA:96097)
- Distal duplication 6p syndrome (ORPHA:1745)
- Distal limb deficiencies-micrognathia syndrome (ORPHA:1307)
- Distal monosomy 7q36 syndrome (ORPHA:1636)
- Distal renal tubular acidosis (ORPHA:18)
- Distal Xq28 microduplication syndrome (ORPHA:293939)
- DK1-CDG (ORPHA:91131)
- Double outlet right ventricle (ORPHA:3426)
- Down syndrome (ORPHA:870)
- Dubowitz syndrome (ORPHA:235)
- Duplication of the pituitary gland (ORPHA:314621)
- DYRK1A-related intellectual disability syndrome (ORPHA:464306)
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
- Dyschromatosis universalis hereditaria (ORPHA:241)
- Dysequilibrium syndrome (ORPHA:1766)
- Dyskeratosis congenita (ORPHA:1775)
- Dysmorphism-short stature-deafness-difference of sex development syndrome (ORPHA:2282)
- Dysosteosclerosis (ORPHA:1782)
- Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type (ORPHA:2204)
- Dysspondyloenchondromatosis (ORPHA:85198)
- Dystonia 28 (ORPHA:589618)
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (ORPHA:289266)
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome (ORPHA:505237)
- Ectodermal dysplasia-blindness syndrome (ORPHA:1806)
- Ectodermal dysplasia-sensorineural deafness syndrome (ORPHA:1883)
- Ectodermal dysplasia-skin fragility syndrome (ORPHA:158668)
- EEC syndrome (ORPHA:1896)
- Eiken syndrome (ORPHA:79106)
- Eng-Strom syndrome (ORPHA:1937)
- Epilepsy-telangiectasia syndrome (ORPHA:1951)
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome (ORPHA:1825)
- Ermine phenotype (ORPHA:999)
- Erythrokeratodermia variabilis (ORPHA:317)
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome (ORPHA:1964)
- Fabry disease (ORPHA:324)
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome (ORPHA:1969)
- Familial benign copper deficiency (ORPHA:1551)
- Familial clubfoot due to 17q23.1q23.2 microduplication (ORPHA:238578)
- Familial isolated hypoparathyroidism (ORPHA:2238)
- Fanconi anemia (ORPHA:84)
- Farber disease (ORPHA:333)
- FATCO syndrome (ORPHA:2492)
- Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
- Feingold syndrome (ORPHA:1305)
- Feingold syndrome type 1 (ORPHA:391641)
- Feingold syndrome type 2 (ORPHA:391646)
- Femoral-facial syndrome (ORPHA:1988)
- Femur-fibula-ulna complex (ORPHA:2019)
- Fetal alcohol syndrome (ORPHA:1915)
- Fetal hydantoin syndrome (ORPHA:1912)
- Fetal methylmercury syndrome (ORPHA:1917)
- FG syndrome type 1 (ORPHA:93932)
- Fibrochondrogenesis (ORPHA:2021)
- Fibrous dysplasia of bone (ORPHA:249)
- Fibular aplasia-complex brachydactyly syndrome (ORPHA:2639)
- Filippi syndrome (ORPHA:3255)
- Floating-Harbor syndrome (ORPHA:2044)
- Focal dermal hypoplasia (ORPHA:2092)
- Fountain syndrome (ORPHA:3219)
- FOXG1 syndrome (ORPHA:561854)
- FRAXE intellectual disability (ORPHA:100973)
- Freeman-Sheldon syndrome (ORPHA:2053)
- Frontofacionasal dysplasia (ORPHA:1791)
- Fryns-Smeets-Thiry syndrome (ORPHA:2058)
- Galloway-Mowat syndrome (ORPHA:2065)
- GAPO syndrome (ORPHA:2067)
- Gaucher disease (ORPHA:355)
- Gaucher disease type 1 (ORPHA:77259)
- Gaucher disease type 3 (ORPHA:77261)
- Geleophysic dysplasia (ORPHA:2623)
- Gemignani syndrome (ORPHA:2074)
- Genitopatellar syndrome (ORPHA:85201)
- German syndrome (ORPHA:2077)
- Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome (ORPHA:2084)
- Glycogen storage disease due to glucose-6-phosphatase deficiency (ORPHA:364)
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib (ORPHA:79259)
- Glycogen storage disease due to glycogen debranching enzyme deficiency (ORPHA:366)
- Glycogen storage disease due to hepatic glycogen synthase deficiency (ORPHA:2089)
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240)
- Glycogen storage disease due to liver glycogen phosphorylase deficiency (ORPHA:369)
- Glycogen storage disease due to liver phosphorylase kinase deficiency (ORPHA:264580)
- GM1 gangliosidosis (ORPHA:354)
- GM2 gangliosidosis, AB variant (ORPHA:309246)
- GMS syndrome (ORPHA:2090)
- Goldberg-Shprintzen megacolon syndrome (ORPHA:66629)
- Gómez-López-Hernández syndrome (ORPHA:1532)
- Gordon syndrome (ORPHA:376)
- Gorlin-Chaudhry-Moss syndrome (ORPHA:2095)
- Grant syndrome (ORPHA:2097)
- Griscelli syndrome (ORPHA:381)
- Growth delay due to insulin-like growth factor I resistance (ORPHA:73273)
- Growth delay due to insulin-like growth factor type 1 deficiency (ORPHA:73272)
- H syndrome (ORPHA:168569)
- Hajdu-Cheney syndrome (ORPHA:955)
- Hall-Riggs syndrome (ORPHA:2107)
- Hamel cerebro-palato-cardiac syndrome (ORPHA:93946)
- Hao-Fountain syndrome due to 16p13.2 microdeletion (ORPHA:500055)
- Hardikar syndrome (ORPHA:1415)
- Hartnup disease (ORPHA:2116)
- Helsmoortel-Van der Aa syndrome (ORPHA:404448)
- Hepatic fibrosis-renal cysts-intellectual disability syndrome (ORPHA:2031)
- Hereditary acrokeratotic poikiloderma (ORPHA:2907)
- Hereditary bullous dystrophy, macular type (ORPHA:1867)
- Hereditary cryohydrocytosis with reduced stomatin (ORPHA:168577)
- Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
- Hereditary sensory and autonomic neuropathy due to TECPR2 mutation (ORPHA:320385)
- Hirschsprung disease (ORPHA:388)
- Holoprosencephaly-craniosynostosis syndrome (ORPHA:2163)
- Hoyeraal-Hreidarsson syndrome (ORPHA:3322)
- Hurler syndrome (ORPHA:93473)
- Hurler-Scheie syndrome (ORPHA:93476)
- Hyaluronidase deficiency (ORPHA:67041)
- Hydrocephalus-obesity-hypogonadism syndrome (ORPHA:2183)
- Hypergonadotropic hypogonadism-cataract syndrome (ORPHA:2410)
- Hyperlysinemia (ORPHA:2203)
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation (ORPHA:324525)
- Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome (ORPHA:2435)
- Hypocalcemic vitamin D-dependent rickets (ORPHA:289157)
- Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
- Hypogonadism-mitral valve prolapse-intellectual disability syndrome (ORPHA:2233)
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome (ORPHA:2235)
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome (ORPHA:293967)
- Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome (ORPHA:1882)
- Hypophosphatasia (ORPHA:436)
- Hypotonia-speech impairment-severe cognitive delay syndrome (ORPHA:371364)
- Hypotrichosis with juvenile macular degeneration (ORPHA:1573)
- ICF syndrome (ORPHA:2268)
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (ORPHA:52430)
- Infantile Refsum disease (ORPHA:772)
- Infantile-onset autosomal recessive nonprogressive cerebellar ataxia (ORPHA:284332)
- Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome (ORPHA:508498)
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (ORPHA:3042)
- Intellectual disability-facial dysmorphism-hand anomalies syndrome (ORPHA:370010)
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome (ORPHA:1495)
- Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome (ORPHA:314575)
- Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome (ORPHA:457365)
- Intellectual disability-myopathy-short stature-endocrine defect syndrome (ORPHA:3068)
- Intellectual disability-polydactyly-uncombable hair syndrome (ORPHA:3082)
- Intellectual disability-strabismus syndrome (ORPHA:363528)
- Intellectual disability, Buenos-Aires type (ORPHA:3079)
- Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome (ORPHA:436144)
- Isolated ATP synthase deficiency (ORPHA:254913)
- Isolated congenital laryngeal web (ORPHA:2374)
- Isolated glycerol kinase deficiency (ORPHA:408)
- Isolated sedoheptulokinase deficiency (ORPHA:440713)
- Jacobsen syndrome (ORPHA:2308)
- Jeune syndrome (ORPHA:474)
- Johanson-Blizzard syndrome (ORPHA:2315)
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy (ORPHA:397715)
- Juvenile Paget disease (ORPHA:2801)
- Juvenile polyposis of infancy (ORPHA:79076)
- Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome (ORPHA:445062)
- Kabuki syndrome (ORPHA:2322)
- Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
- Kallmann syndrome-heart disease syndrome (ORPHA:2326)
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (ORPHA:457193)
- KBG syndrome (ORPHA:2332)
- KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
- Kearns-Sayre syndrome (ORPHA:480)
- Keipert syndrome (ORPHA:2662)
- Keutel syndrome (ORPHA:85202)
- Kleefstra syndrome (ORPHA:261494)
- Kleefstra syndrome due to a point mutation (ORPHA:261652)
- Koolen-De Vries syndrome (ORPHA:96169)
- Kyphoscoliotic Ehlers-Danlos syndrome (ORPHA:536545)
- Laron syndrome with immunodeficiency (ORPHA:220465)
- Larsen syndrome (ORPHA:503)
- Larsen-like osseous dysplasia-short stature syndrome (ORPHA:2370)
- Larynx atresia (ORPHA:1202)
- Laurence-Moon syndrome (ORPHA:2377)
- Legg-Calvé-Perthes disease (ORPHA:2380)
- Legius syndrome (ORPHA:137605)
- Lethal congenital contracture syndrome type 1 (ORPHA:1486)
- Leukocyte adhesion deficiency (ORPHA:2968)
- Leukocyte adhesion deficiency type II (ORPHA:99843)
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome (ORPHA:1816)
- Lipodystrophy-intellectual disability-deafness syndrome (ORPHA:50811)
- Lobar holoprosencephaly (ORPHA:93924)
- Lowry-Wood syndrome (ORPHA:1824)
- Maffucci syndrome (ORPHA:163634)
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome (ORPHA:2234)
- Mandibuloacral dysplasia with type A lipodystrophy (ORPHA:90153)
- Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
- Mandibulofacial dysostosis-microcephaly syndrome (ORPHA:79113)
- Marshall syndrome (ORPHA:560)
- MASA syndrome (ORPHA:2466)
- Maternal hyperthermia-induced birth defects (ORPHA:2216)
- Maternal uniparental disomy of chromosome 1 syndrome (ORPHA:251009)
- Maternal uniparental disomy of chromosome 20 syndrome (ORPHA:96186)
- Maternal uniparental disomy of chromosome 4 syndrome (ORPHA:96180)
- Maternal uniparental disomy of chromosome X syndrome (ORPHA:261519)
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 (ORPHA:2578)
- McDonough syndrome (ORPHA:2471)
- McKusick-Kaufman syndrome (ORPHA:2473)
- Megalocornea-intellectual disability syndrome (ORPHA:2479)
- MELAS (ORPHA:550)
- Melnick-Needles syndrome (ORPHA:2484)
- MEND syndrome (ORPHA:401973)
- Menke-Hennekam syndrome (ORPHA:592574)
- MERRF (ORPHA:551)
- Mesomelia-synostoses syndrome (ORPHA:2496)
- Mesomelic dysplasia, Kantaputra type (ORPHA:1836)
- Mesomelic dysplasia, Savarirayan type (ORPHA:85170)
- Metaphyseal anadysplasia (ORPHA:1040)
- Metaphyseal chondrodysplasia, Rosenberg type (ORPHA:1837)
- Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (ORPHA:99646)
- Mevalonic aciduria (ORPHA:29)
- Micro syndrome (ORPHA:2510)
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
- Microcephalic primordial dwarfism, Dauber type (ORPHA:319675)
- Microcephaly-brachydactyly-kyphoscoliosis syndrome (ORPHA:3433)
- Microcephaly-cardiomyopathy syndrome (ORPHA:2515)
- Microcephaly-cervical spine fusion anomalies syndrome (ORPHA:2522)
- Microcephaly-deafness-intellectual disability syndrome (ORPHA:2533)
- Microcephaly-microcornea syndrome, Seemanova type (ORPHA:2528)
- Microform holoprosencephaly (ORPHA:280200)
- Microphthalmia with limb anomalies (ORPHA:1106)
- Microphthalmia, Lenz type (ORPHA:568)
- Microtriplication 11q24.1 syndrome (ORPHA:289522)
- Midline interhemispheric variant of holoprosencephaly (ORPHA:93926)
- Mirror polydactyly-vertebral segmentation-limbs defects syndrome (ORPHA:3004)
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (ORPHA:1933)
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome (ORPHA:502423)
- MOMO syndrome (ORPHA:2563)
- Monosomy 13q14 syndrome (ORPHA:1587)
- Monosomy 18p syndrome (ORPHA:1598)
- Monosomy 18q syndrome (ORPHA:1600)
- Monosomy 5p syndrome (ORPHA:281)
- Monosomy X syndrome (ORPHA:99226)
- Mosaic monosomy X syndrome (ORPHA:99228)
- Mosaic trisomy 12 syndrome (ORPHA:1698)
- Mosaic trisomy 3 syndrome (ORPHA:100071)
- Mosaic trisomy 8 syndrome (ORPHA:96061)
- Mosaic variegated aneuploidy syndrome (ORPHA:1052)
- Mowat-Wilson syndrome (ORPHA:2152)
- Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
- Mowat-Wilson syndrome due to monosomy 2q22 (ORPHA:261537)
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome (ORPHA:280679)
- Muckle-Wells syndrome (ORPHA:575)
- Mucolipidosis type II (ORPHA:576)
- Mucolipidosis type III (ORPHA:577)
- Mucolipidosis type III alpha/beta (ORPHA:423461)
- Mucopolysaccharidosis type 1 (ORPHA:579)
- Mucopolysaccharidosis type 2 (ORPHA:580)
- Mucopolysaccharidosis type 4 (ORPHA:582)
- Mulibrey nanism (ORPHA:2576)
- Müllerian aplasia and hyperandrogenism (ORPHA:247768)
- Müllerian duct anomalies-limb anomalies syndrome (ORPHA:2491)
- Multiminicore myopathy (ORPHA:598)
- Multiple benign circumferential skin creases on limbs (ORPHA:2505)
- Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
- Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome (ORPHA:166024)
- Multiple epiphyseal dysplasia, Lowry type (ORPHA:166016)
- Multiple osteochondromas (ORPHA:321)
- Multiple sulfatase deficiency (ORPHA:585)
- Muscular pseudohypertrophy-hypothyroidism syndrome (ORPHA:2349)
- Myotonia permanens (ORPHA:99735)
- MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
- Nail-patella-like renal disease (ORPHA:2613)
- NARP syndrome (ORPHA:644)
- Nathalie syndrome (ORPHA:2663)
- Native American myopathy (ORPHA:168572)
- Neonatal adrenoleukodystrophy (ORPHA:44)
- Neonatal severe primary hyperparathyroidism (ORPHA:417)
- Netherton syndrome (ORPHA:634)
- Neuralgic amyotrophy (ORPHA:2901)
- Neurofaciodigitorenal syndrome (ORPHA:2673)
- Neurofibromatosis type 1 (ORPHA:636)
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion (ORPHA:363700)
- Neurofibromatosis-Noonan syndrome (ORPHA:638)
- Neutral lipid storage disease with ichthyosis (ORPHA:98907)
- Neutral lipid storage disease with myopathy (ORPHA:98908)
- Nijmegen breakage syndrome (ORPHA:647)
- Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome (ORPHA:231720)
- Non-acquired isolated growth hormone deficiency (ORPHA:631)
- Non-acquired panhypopituitarism (ORPHA:90695)
- Non-distal duplication 10q syndrome (ORPHA:1695)
- Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
- Non-syndromic agammaglobulinemia (ORPHA:229717)
- Non-syndromic bilambdoid and sagittal craniosynostosis (ORPHA:1516)
- Noonan syndrome (ORPHA:648)
- Noonan syndrome with multiple lentigines (ORPHA:500)
- Noonan syndrome-like disorder with loose anagen hair (ORPHA:2701)
- Obesity due to SIM1 deficiency (ORPHA:369873)
- Oculo-palato-cerebral syndrome (ORPHA:2714)
- Oculoauriculovertebral spectrum with radial defects (ORPHA:2549)
- Oculocerebral hypopigmentation syndrome, Cross type (ORPHA:2719)
- Oculocerebral hypopigmentation syndrome, Preus type (ORPHA:2720)
- Oculocerebrorenal syndrome of Lowe (ORPHA:534)
- Oculomaxillofacial dysostosis (ORPHA:1794)
- Oculoskeletodental syndrome (ORPHA:557003)
- Odontochondrodysplasia (ORPHA:166272)
- Opitz GBBB syndrome (ORPHA:2745)
- Optic atrophy-intellectual disability syndrome (ORPHA:401777)
- Orofaciodigital syndrome type 2 (ORPHA:2751)
- Orofaciodigital syndrome type 6 (ORPHA:2754)
- OSLAM syndrome (ORPHA:2760)
- Osteogenesis imperfecta (ORPHA:666)
- Osteopetrosis with renal tubular acidosis (ORPHA:2785)
- Osteoporosis-oculocutaneous hypopigmentation syndrome (ORPHA:2786)
- Osteoporosis-pseudoglioma syndrome (ORPHA:2788)
- Otofaciocervical syndrome (ORPHA:2792)
- Oxoglutaric aciduria (ORPHA:31)
- PAGOD syndrome (ORPHA:991)
- Pallister-Hall syndrome (ORPHA:672)
- Pallister-Killian syndrome (ORPHA:884)
- Parana hard skin syndrome (ORPHA:2812)
- Paternal uniparental disomy of chromosome 1 syndrome (ORPHA:251004)
- Paternal uniparental disomy of chromosome X syndrome (ORPHA:261524)
- PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
- Pectus excavatum-macrocephaly-dysplastic nails syndrome (ORPHA:2835)
- Pelizaeus-Merzbacher disease (ORPHA:702)
- Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
- Pelvis-shoulder dysplasia (ORPHA:2839)
- Pelviscapular dysplasia (ORPHA:93333)
- Pentasomy X syndrome (ORPHA:11)
- Peters plus syndrome (ORPHA:709)
- Pfeiffer syndrome (ORPHA:710)
- Pfeiffer-Palm-Teller syndrome (ORPHA:2871)
- PGM3-CDG (ORPHA:443811)
- Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome (ORPHA:1388)
- Pituitary stalk interruption syndrome (ORPHA:95496)
- Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome (ORPHA:2928)
- Postaxial polydactyly-dental and vertebral anomalies syndrome (ORPHA:2916)
- Prader-Willi syndrome (ORPHA:739)
- Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
- Prader-Willi syndrome due to paternal 15q11q13 deletion (ORPHA:98793)
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
- Prader-Willi syndrome due to translocation (ORPHA:177907)
- Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency (ORPHA:90023)
- Progeria-short stature-pigmented nevi syndrome (ORPHA:2959)
- Progeroid syndrome, Petty type (ORPHA:2963)
- Progressive familial intrahepatic cholestasis (ORPHA:172)
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (ORPHA:477814)
- Progressive pseudorheumatoid dysplasia (ORPHA:1159)
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
- Proximal 16p11.2 microduplication syndrome (ORPHA:370079)
- Proximal renal tubular acidosis (ORPHA:47159)
- Proximal Xq28 duplication syndrome (ORPHA:1762)
- Pseudoaminopterin syndrome (ORPHA:221120)
- Pseudohypoaldosteronism type 2 (ORPHA:757)
- Pseudohypoparathyroidism type 1A (ORPHA:79443)
- Pseudohypoparathyroidism type 1B (ORPHA:94089)
- Pseudohypoparathyroidism type 1C (ORPHA:79444)
- Pseudoprogeria syndrome (ORPHA:2985)
- Pseudopseudohypoparathyroidism (ORPHA:79445)
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome (ORPHA:438213)
- Rabson-Mendenhall syndrome (ORPHA:769)
- Radioulnar synostosis-microcephaly-scoliosis syndrome (ORPHA:3268)
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome (ORPHA:293987)
- Renal hypoplasia, bilateral (ORPHA:97362)
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome (ORPHA:3085)
- Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome (ORPHA:436245)
- RFT1-CDG (ORPHA:244310)
- Rhizomelic chondrodysplasia punctata (ORPHA:177)
- Rhizomelic syndrome, Urbach type (ORPHA:3098)
- Richieri Costa-da Silva syndrome (ORPHA:3101)
- Richieri Costa-Pereira syndrome (ORPHA:3102)
- RIDDLE syndrome (ORPHA:420741)
- Ring chromosome 11 syndrome (ORPHA:96175)
- Ring chromosome 15 syndrome (ORPHA:96177)
- Ring chromosome 17 syndrome (ORPHA:1441)
- Ring chromosome 18 syndrome (ORPHA:1442)
- Ring chromosome 21 syndrome (ORPHA:1445)
- Ring chromosome 3 syndrome (ORPHA:96172)
- Ring chromosome 6 syndrome (ORPHA:1448)
- Ring chromosome 7 syndrome (ORPHA:1449)
- Ring chromosome Y syndrome (ORPHA:261529)
- Robinow syndrome (ORPHA:97360)
- Roifman syndrome (ORPHA:353298)
- Rothmund-Thomson syndrome (ORPHA:2909)
- Rothmund-Thomson syndrome type 1 (ORPHA:221008)
- Rothmund-Thomson syndrome type 2 (ORPHA:221016)
- Rubinstein-Taybi syndrome (ORPHA:783)
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
- Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
- Saccharopinuria (ORPHA:3124)
- Saethre-Chotzen syndrome (ORPHA:794)
- Sagliker syndrome (ORPHA:300493)
- Sanjad-Sakati syndrome (ORPHA:2323)
- Satoyoshi syndrome (ORPHA:3130)
- Say-Barber-Miller syndrome (ORPHA:3132)
- Schaaf-Yang syndrome (ORPHA:398069)
- Schimke immuno-osseous dysplasia (ORPHA:1830)
- Schwartz-Jampel syndrome (ORPHA:800)
- Seckel syndrome (ORPHA:808)
- Semilobar holoprosencephaly (ORPHA:220386)
- Senior-Loken syndrome (ORPHA:3156)
- Septo-optic dysplasia spectrum (ORPHA:3157)
- Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (ORPHA:329249)
- Severe intellectual disability and progressive spastic paraplegia (ORPHA:280763)
- Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
- Severe oculo-renal-cerebellar syndrome (ORPHA:2715)
- Sheldon-Hall syndrome (ORPHA:1147)
- Short fifth metacarpals-insulin resistance syndrome (ORPHA:66518)
- Short stature due to GHSR deficiency (ORPHA:314811)
- Short stature due to partial GHR deficiency (ORPHA:314802)
- Short stature due to primary acid-labile subunit deficiency (ORPHA:140941)
- Short stature-craniofacial anomalies-genital hypoplasia syndrome (ORPHA:2994)
- Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome (ORPHA:2866)
- Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
- Short stature-webbed neck-heart disease syndrome (ORPHA:2865)
- Short stature-wormian bones-dextrocardia syndrome (ORPHA:2863)
- Short stature, Brussels type (ORPHA:2867)
- SHOX-related short stature (ORPHA:314795)
- Shwachman-Diamond syndrome (ORPHA:811)
- Sialidosis type 1 (ORPHA:812)
- Sialidosis type 2 (ORPHA:87876)
- Silver-Russell syndrome (ORPHA:813)
- Silver-Russell syndrome due to 11p15 microduplication (ORPHA:231144)
- Silver-Russell syndrome due to 7p11.2p13 microduplication (ORPHA:231137)
- Silver-Russell syndrome due to an imprinting defect of 11p15 (ORPHA:231140)
- SIX2-related frontonasal dysplasia (ORPHA:488437)
- Skeletal dysplasia-epilepsy-short stature syndrome (ORPHA:1858)
- SLC35A2-CDG (ORPHA:356961)
- SLC39A8-CDG (ORPHA:468699)
- Small bowel atresia (ORPHA:1201)
- Smith-Lemli-Opitz syndrome (ORPHA:818)
- Smith-Magenis syndrome (ORPHA:819)
- Sorsby syndrome (ORPHA:1471)
- Spastic paraparesis-deafness syndrome (ORPHA:2815)
- Spastic paraplegia-severe developmental delay-epilepsy syndrome (ORPHA:464282)
- Spinocerebellar ataxia type 13 (ORPHA:98768)
- Spinocerebellar ataxia-dysmorphism syndrome (ORPHA:1185)
- Spondylo-ocular syndrome (ORPHA:85194)
- Spondylodysplastic Ehlers-Danlos syndrome (ORPHA:536471)
- Spondyloenchondrodysplasia (ORPHA:1855)
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (ORPHA:93360)
- Spondyloepimetaphyseal dysplasia, Handigodu type (ORPHA:99642)
- Spondyloepimetaphyseal dysplasia, matrilin-3 type (ORPHA:156728)
- Spondyloepiphyseal dysplasia tarda, Kohn type (ORPHA:163665)
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome (ORPHA:163654)
- Spondylometaphyseal dysplasia, 'corner fracture' type (ORPHA:93315)
- STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome (ORPHA:502434)
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
- Stickler syndrome (ORPHA:828)
- Stiff skin syndrome (ORPHA:2833)
- Stimmler syndrome (ORPHA:3199)
- Stormorken-Sjaastad-Langslet syndrome (ORPHA:3204)
- Stüve-Wiedemann syndrome (ORPHA:3206)
- Subaortic stenosis-short stature syndrome (ORPHA:3191)
- Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
- Syndactyly-telecanthus-anogenital and renal malformations syndrome (ORPHA:140952)
- Syndromic recessive X-linked ichthyosis (ORPHA:281090)
- Tarsal-carpal coalition syndrome (ORPHA:1412)
- TELO2-related intellectual disability-neurodevelopmental disorder (ORPHA:488642)
- Temple syndrome (ORPHA:254516)
- Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
- Temple-Baraitser syndrome (ORPHA:420561)
- Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
- Terminal osseous dysplasia-pigmentary defects syndrome (ORPHA:88630)
- Thalidomide embryopathy (ORPHA:3312)
- Thanatophoric dysplasia type 2 (ORPHA:93274)
- Thiamine-responsive megaloblastic anemia syndrome (ORPHA:49827)
- Thoracic dysplasia-hydrocephalus syndrome (ORPHA:1861)
- Thyroid ectopia (ORPHA:95712)
- Thyroid hypoplasia (ORPHA:95720)
- Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (ORPHA:988)
- Toluene embryopathy (ORPHA:1920)
- Toriello-Carey syndrome (ORPHA:3338)
- Townes-Brocks syndrome (ORPHA:857)
- Tremor-ataxia-central hypomyelination syndrome (ORPHA:447896)
- Trichohepatoenteric syndrome (ORPHA:84064)
- Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
- Trichorhinophalangeal syndrome type 2 (ORPHA:502)
- Trigonocephaly-short stature-developmental delay syndrome (ORPHA:3369)
- Triple A syndrome (ORPHA:869)
- Trismus-pseudocamptodactyly syndrome (ORPHA:3377)
- Trisomy 12p syndrome (ORPHA:1699)
- Trisomy 17p syndrome (ORPHA:261290)
- Trisomy 18 syndrome (ORPHA:3380)
- Trisomy 18p syndrome (ORPHA:1715)
- Trisomy 4p syndrome (ORPHA:1738)
- Trisomy 5p syndrome (ORPHA:1742)
- Turner syndrome (ORPHA:881)
- Turner syndrome due to structural X chromosome anomalies (ORPHA:99413)
- Ulnar-mammary syndrome (ORPHA:3138)
- Ulnar/fibula ray defect-brachydactyly syndrome (ORPHA:52056)
- Urban-Rogers-Meyer syndrome (ORPHA:3409)
- Velo-facial-skeletal syndrome (ORPHA:3424)
- Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome (ORPHA:3201)
- Vici syndrome (ORPHA:1493)
- Vogt-Koyanagi-Harada disease (ORPHA:3437)
- WAGR syndrome (ORPHA:893)
- Weill-Marchesani syndrome (ORPHA:3449)
- Werner syndrome (ORPHA:902)
- White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome (ORPHA:3207)
- White-Sutton syndrome (ORPHA:468678)
- Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
- Wiedemann-Steiner syndrome (ORPHA:319182)
- Williams syndrome (ORPHA:904)
- Wilson-Turner syndrome (ORPHA:3459)
- Wolcott-Rallison syndrome (ORPHA:1667)
- Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia (ORPHA:166277)
- Wrinkly skin syndrome (ORPHA:2834)
- X-linked agammaglobulinemia (ORPHA:47)
- X-linked alpha-thalassemia-intellectual disability syndrome (ORPHA:847)
- X-linked creatine transporter deficiency (ORPHA:52503)
- X-linked dominant chondrodysplasia punctata (ORPHA:35173)
- X-linked dominant chondrodysplasia, Chassaing-Lacombe type (ORPHA:163966)
- X-linked Ehlers-Danlos syndrome (ORPHA:75497)
- X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
- X-linked intellectual disability due to GRIA3 mutations (ORPHA:364028)
- X-linked intellectual disability with isolated growth hormone deficiency (ORPHA:67045)
- X-linked intellectual disability-craniofacioskeletal syndrome (ORPHA:163979)
- X-linked intellectual disability-cubitus valgus-dysmorphism syndrome (ORPHA:85280)
- X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome (ORPHA:3055)
- X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (ORPHA:85329)
- X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
- X-linked intellectual disability-psychosis-macroorchidism syndrome (ORPHA:3077)
- X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
- X-linked intellectual disability, Abidi type (ORPHA:85273)
- X-linked intellectual disability, Armfield type (ORPHA:85276)
- X-linked intellectual disability, Cabezas type (ORPHA:85293)
- X-linked intellectual disability, Cilliers type (ORPHA:163971)
- X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
- X-linked intellectual disability, Porteous type (ORPHA:93945)
- X-linked intellectual disability, Schimke type (ORPHA:85285)
- X-linked intellectual disability, Shrimpton type (ORPHA:85324)
- X-linked intellectual disability, Snyder type (ORPHA:3063)
- X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
- X-linked intellectual disability, Stoll type (ORPHA:85326)
- X-linked intellectual disability, Sutherland-Haan type (ORPHA:93950)
- X-linked intellectual disability, Van Esch type (ORPHA:163976)
- X-linked mandibulofacial dysostosis (ORPHA:1131)
- X-linked skeletal dysplasia-intellectual disability syndrome (ORPHA:1436)
- Xeroderma pigmentosum (ORPHA:910)
- Xeroderma pigmentosum-Cockayne syndrome complex (ORPHA:220295)
- Xp22.13p22.2 duplication syndrome (ORPHA:284180)
- Xp22.3 microdeletion syndrome (ORPHA:1643)
- Xq12-q13.3 duplication syndrome (ORPHA:314389)
- Xq25 microduplication syndrome (ORPHA:521258)
- Xq27.3q28 duplication syndrome (ORPHA:261483)
- XY type gonadal dysgenesis-associated anomalies syndrome (ORPHA:1770)
- XYLT1-CDG (ORPHA:370930)
- Yunis-Varon syndrome (ORPHA:3472)
- Zellweger syndrome (ORPHA:912)
- Zellweger-like syndrome without peroxisomal anomalies (ORPHA:50812)
- Disproportionate short statureHP:0003498權重 0.55待審核具此 HPO 的疾病（附加參考）：
- Achondrogenesis type 1B (ORPHA:93298)
- Achondroplasia (ORPHA:15)
- Acromesomelic dysplasia, Maroteaux type (ORPHA:40)
- Autosomal recessive otospondylomegaepiphyseal dysplasia (ORPHA:1427)
- Heart defects-limb shortening syndrome (ORPHA:1354)
- Kniest dysplasia (ORPHA:485)
- Kyphomelic dysplasia (ORPHA:1801)
- Mesomelic dwarfism, Reinhardt-Pfeiffer type (ORPHA:2634)
- Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
- Microcephalic osteodysplastic primordial dwarfism type II (ORPHA:2637)
- Multiple epiphyseal dysplasia type 1 (ORPHA:93308)
- Multiple epiphyseal dysplasia type 4 (ORPHA:93307)
- Phocomelia, Schinzel type (ORPHA:2879)
- Short stature-valvular heart disease-characteristic facies syndrome (ORPHA:2868)
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome (ORPHA:508533)
- Spondylocarpotarsal synostosis (ORPHA:3275)
- Spondyloepimetaphyseal dysplasia, Missouri type (ORPHA:93356)
- Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
- Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
- Spondyloperipheral dysplasia-short ulna syndrome (ORPHA:1856)
- X-linked hypophosphatemia (ORPHA:89936)