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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。
身高成長變慢
待審核對應 HPO 表現型(1)
- Growth delayHP:0001510權重 0.6待審核具此 HPO 的疾病（附加參考）：
- 19p13.3 microduplication syndrome (ORPHA:447980)
- 19q13.11 microdeletion syndrome (ORPHA:217346)
- 1q41q42 microdeletion syndrome (ORPHA:250999)
- 1q44 microdeletion syndrome (ORPHA:238769)
- 20q11.2 microduplication syndrome (ORPHA:363659)
- 20q13.33 microdeletion syndrome (ORPHA:261311)
- 22q11.2 duplication syndrome (ORPHA:1727)
- 2p15p16.1 microdeletion syndrome (ORPHA:261349)
- 2p21 microdeletion syndrome (ORPHA:163693)
- 2q23.1 microdeletion syndrome (ORPHA:228402)
- 2q32q33 deletion syndrome (ORPHA:251019)
- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
- 4q21 microdeletion syndrome (ORPHA:238750)
- 5q35 microduplication syndrome (ORPHA:228415)
- 7q11.23 microduplication syndrome (ORPHA:96121)
- 8p11.2 deletion syndrome (ORPHA:251066)
- 8p23.1 microdeletion syndrome (ORPHA:251071)
- Ablepharon macrostomia syndrome (ORPHA:920)
- Absence of the pulmonary artery (ORPHA:980)
- Achalasia-microcephaly syndrome (ORPHA:929)
- Alobar holoprosencephaly (ORPHA:93925)
- Alopecia-intellectual disability syndrome (ORPHA:2850)
- Alpha-heavy chain disease (ORPHA:100025)
- Andersen-Tawil syndrome (ORPHA:37553)
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (ORPHA:1071)
- Anophthalmia/microphthalmia-esophageal atresia syndrome (ORPHA:77298)
- Arginine vasopressin resistance (ORPHA:223)
- Aromatase deficiency (ORPHA:91)
- Athyreosis (ORPHA:95713)
- Atypical Rett syndrome (ORPHA:3095)
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency (ORPHA:436159)
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form (ORPHA:79396)
- Autosomal dominant hypophosphatemic rickets (ORPHA:89937)
- Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
- Autosomal dominant spastic paraplegia type 3 (ORPHA:100984)
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome (ORPHA:363429)
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form (ORPHA:89842)
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form (ORPHA:79408)
- Autosomal recessive hypophosphatemic rickets (ORPHA:289176)
- Autosomal recessive Kenny-Caffey syndrome (ORPHA:93324)
- Autosomal recessive malignant osteopetrosis (ORPHA:667)
- Autosomal recessive polycystic kidney disease (ORPHA:731)
- Autosomal recessive primary microcephaly (ORPHA:2512)
- Autosomal recessive spastic paraplegia type 20 (ORPHA:101000)
- Autosomal recessive spastic paraplegia type 9B (ORPHA:447760)
- Axenfeld-Rieger syndrome (ORPHA:782)
- Axial spondylometaphyseal dysplasia (ORPHA:168549)
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome (ORPHA:75496)
- Baller-Gerold syndrome (ORPHA:1225)
- Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
- Beta-thalassemia major (ORPHA:231214)
- Beta-ureidopropionase deficiency (ORPHA:65287)
- Bilateral generalized polymicrogyria (ORPHA:208447)
- Blepharophimosis-intellectual disability syndrome, SBBYS type (ORPHA:3047)
- Bloom syndrome (ORPHA:125)
- Brain-lung-thyroid syndrome (ORPHA:209905)
- BRESEK syndrome (ORPHA:85284)
- CACH syndrome (ORPHA:135)
- Cardiocranial syndrome, Pfeiffer type (ORPHA:2872)
- Carey-Fineman-Ziter syndrome (ORPHA:1358)
- CDKL5-deficiency disorder (ORPHA:505652)
- Cernunnos-XLF deficiency (ORPHA:169079)
- Chronic neurovisceral acid sphingomyelinase deficiency (ORPHA:618891)
- Chylomicron retention disease (ORPHA:71)
- CINCA syndrome (ORPHA:1451)
- Cockayne syndrome (ORPHA:191)
- Coffin-Siris syndrome (ORPHA:1465)
- COG4-CDG (ORPHA:263501)
- Combined pituitary hormone deficiencies, genetic forms (ORPHA:95494)
- Congenital intrinsic factor deficiency (ORPHA:332)
- Congenital pulmonary lymphangiectasia (ORPHA:2414)
- Craniopharyngioma (ORPHA:54595)
- Cystinosis (ORPHA:213)
- Desmosterolosis (ORPHA:35107)
- Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion (ORPHA:1617)
- Diamond-Blackfan anemia (ORPHA:124)
- Dihydropyrimidinuria (ORPHA:38874)
- Dilated cardiomyopathy with ataxia (ORPHA:66634)
- Distal 22q11.2 microdeletion syndrome (ORPHA:261330)
- Distal deletion 12q syndrome (ORPHA:96149)
- Distal deletion 15q syndrome (ORPHA:1596)
- Distal renal tubular acidosis (ORPHA:18)
- Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
- Ear-patella-short stature syndrome (ORPHA:2554)
- Early-onset epilepsy-intellectual disability-brain anomalies syndrome (ORPHA:488635)
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome (ORPHA:496756)
- Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome (ORPHA:3240)
- Emanuel syndrome (ORPHA:96170)
- Esophageal atresia (ORPHA:1199)
- Familial dysautonomia (ORPHA:1764)
- Familial hypoaldosteronism (ORPHA:427)
- Fanconi anemia (ORPHA:84)
- Fanconi-Bickel syndrome (ORPHA:2088)
- Fatal infantile lactic acidosis with methylmalonic aciduria (ORPHA:17)
- Fatty acyl-CoA reductase 1 deficiency (ORPHA:438178)
- Filippi syndrome (ORPHA:3255)
- Floating-Harbor syndrome (ORPHA:2044)
- FOXG1 syndrome due to 14q12 microdeletion (ORPHA:261144)
- Freeman-Sheldon syndrome (ORPHA:2053)
- Frontometaphyseal dysplasia (ORPHA:1826)
- Galactose epimerase deficiency (ORPHA:79238)
- GAPO syndrome (ORPHA:2067)
- Gaucher disease (ORPHA:355)
- Gaucher disease type 1 (ORPHA:77259)
- Gaucher disease type 3 (ORPHA:77261)
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome (ORPHA:2072)
- Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
- Geroderma osteodysplastica (ORPHA:2078)
- Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
- Glycogen storage disease due to acid maltase deficiency (ORPHA:365)
- Glycogen storage disease due to aldolase A deficiency (ORPHA:57)
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib (ORPHA:79259)
- Glycogen storage disease due to liver glycogen phosphorylase deficiency (ORPHA:369)
- Glycogen storage disease due to liver phosphorylase kinase deficiency (ORPHA:264580)
- Growth delay due to insulin-like growth factor I resistance (ORPHA:73273)
- Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
- Heme oxygenase-1 deficiency (ORPHA:562509)
- Hereditary arginine vasopressin deficiency (ORPHA:30925)
- Hereditary bullous dystrophy, macular type (ORPHA:1867)
- Hereditary fructose intolerance (ORPHA:469)
- Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
- Hereditary sensory and autonomic neuropathy type 4 (ORPHA:642)
- Hereditary spherocytosis (ORPHA:822)
- Hirschsprung disease (ORPHA:388)
- Holocarboxylase synthetase deficiency (ORPHA:79242)
- Homocystinuria without methylmalonic aciduria (ORPHA:622)
- Hurler syndrome (ORPHA:93473)
- Hyperimmunoglobulinemia D with periodic fever (ORPHA:343)
- Hyperphosphatasia-intellectual disability syndrome (ORPHA:247262)
- Hypohidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
- Hypophosphatasia (ORPHA:436)
- Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
- Hypotonia-cystinuria syndrome (ORPHA:163690)
- Ichthyosis follicularis-alopecia-photophobia syndrome (ORPHA:2273)
- Idiopathic steroid-resistant nephrotic syndrome (ORPHA:567548)
- Infantile nephropathic cystinosis (ORPHA:411629)
- Infantile systemic hyalinosis (ORPHA:2176)
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome (ORPHA:1495)
- Intermediate generalized junctional epidermolysis bullosa (ORPHA:79402)
- Inverted duplicated chromosome 15 syndrome (ORPHA:3306)
- Isolated thyroid-stimulating hormone deficiency (ORPHA:90674)
- Jacobsen syndrome (ORPHA:2308)
- Junctional epidermolysis bullosa inversa (ORPHA:79405)
- Juvenile nephropathic cystinosis (ORPHA:411634)
- Juvenile polyposis syndrome (ORPHA:2929)
- 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)
- Kleefstra syndrome due to 9q34 microdeletion (ORPHA:96147)
- Langerhans cell histiocytosis (ORPHA:389)
- Late-onset junctional epidermolysis bullosa (ORPHA:79406)
- Leigh syndrome (ORPHA:506)
- Leukocyte adhesion deficiency (ORPHA:2968)
- LIG4 syndrome (ORPHA:99812)
- Linear nevus sebaceus syndrome (ORPHA:2612)
- Lobar holoprosencephaly (ORPHA:93924)
- Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
- Lowry-MacLean syndrome (ORPHA:2409)
- Lysinuric protein intolerance (ORPHA:470)
- Maffucci syndrome (ORPHA:163634)
- Malonic aciduria (ORPHA:943)
- Marden-Walker syndrome (ORPHA:2461)
- Maternal uniparental disomy of chromosome 1 syndrome (ORPHA:251009)
- MECP2-related severe neonatal encephalopathy (ORPHA:209370)
- MEHMO syndrome (ORPHA:85282)
- Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (ORPHA:99646)
- Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
- Methylmalonic acidemia with homocystinuria, type cblC (ORPHA:79282)
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:485421)
- Microcephaly-microcornea syndrome, Seemanova type (ORPHA:2528)
- Microgastria-limb reduction defect syndrome (ORPHA:2538)
- Microphthalmia with linear skin defects syndrome (ORPHA:2556)
- Midline interhemispheric variant of holoprosencephaly (ORPHA:93926)
- Miller-Dieker syndrome (ORPHA:531)
- Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome (ORPHA:502423)
- Monosomy 13q34 syndrome (ORPHA:96168)
- Monosomy 18q syndrome (ORPHA:1600)
- Monosomy X syndrome (ORPHA:99226)
- Mosaic monosomy X syndrome (ORPHA:99228)
- Mosaic variegated aneuploidy syndrome (ORPHA:1052)
- Mowat-Wilson syndrome (ORPHA:2152)
- Mucopolysaccharidosis type 2 (ORPHA:580)
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion (ORPHA:352665)
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
- Non-acquired isolated growth hormone deficiency (ORPHA:631)
- Non-acquired panhypopituitarism (ORPHA:90695)
- Noonan syndrome with multiple lentigines (ORPHA:500)
- Obesity due to pro-opiomelanocortin deficiency (ORPHA:71526)
- Obesity due to prohormone convertase I deficiency (ORPHA:71528)
- Oculocerebral hypopigmentation syndrome, Cross type (ORPHA:2719)
- Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
- Oculoectodermal syndrome (ORPHA:3339)
- Oncogenic osteomalacia (ORPHA:352540)
- Optic pathway glioma (ORPHA:2086)
- Orofaciodigital syndrome type 4 (ORPHA:2753)
- Orofaciodigital syndrome type 6 (ORPHA:2754)
- Osteogenesis imperfecta (ORPHA:666)
- Pancreatic colipase deficiency (ORPHA:309108)
- Pancreatic triacylglycerol lipase deficiency (ORPHA:309031)
- Parana hard skin syndrome (ORPHA:2812)
- Pearson syndrome (ORPHA:699)
- Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
- Phenylketonuria (ORPHA:716)
- Pili torti-developmental delay-neurological abnormalities syndrome (ORPHA:2891)
- Pitt-Hopkins syndrome (ORPHA:2896)
- Pontocerebellar hypoplasia type 10 (ORPHA:411493)
- Post-traumatic pituitary deficiency (ORPHA:95619)
- Prader-Willi syndrome (ORPHA:739)
- Primary Fanconi renotubular syndrome (ORPHA:3337)
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome (ORPHA:2232)
- Primary intestinal lymphangiectasia (ORPHA:90362)
- Prominent glabella-microcephaly-hypogenitalism syndrome (ORPHA:2083)
- Proximal renal tubular acidosis (ORPHA:47159)
- Pseudohypoaldosteronism type 2 (ORPHA:757)
- Pseudoprogeria syndrome (ORPHA:2985)
- Pyruvate carboxylase deficiency (ORPHA:3008)
- Pyruvate dehydrogenase deficiency (ORPHA:765)
- Recessive dystrophic epidermolysis bullosa inversa (ORPHA:79409)
- Renal hypoplasia, bilateral (ORPHA:97362)
- Renpenning syndrome (ORPHA:3242)
- Resistance to thyrotropin-releasing hormone syndrome (ORPHA:99832)
- Rett syndrome (ORPHA:778)
- Revesz syndrome (ORPHA:3088)
- Rhizomelic chondrodysplasia punctata (ORPHA:177)
- Ring chromosome 11 syndrome (ORPHA:96175)
- Ring chromosome 12 syndrome (ORPHA:1439)
- Ring chromosome 13 syndrome (ORPHA:96176)
- Ring chromosome 15 syndrome (ORPHA:96177)
- Ring chromosome 17 syndrome (ORPHA:1441)
- Ring chromosome 19 syndrome (ORPHA:1443)
- Ring chromosome 20 syndrome (ORPHA:1444)
- Ring chromosome 22 syndrome (ORPHA:1446)
- Ring chromosome 9 syndrome (ORPHA:96173)
- Rothmund-Thomson syndrome type 1 (ORPHA:221008)
- Rothmund-Thomson syndrome type 2 (ORPHA:221016)
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
- S-adenosylhomocysteine hydrolase deficiency (ORPHA:88618)
- SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
- Schimke immuno-osseous dysplasia (ORPHA:1830)
- Secondary short bowel syndrome (ORPHA:95427)
- Selective IgM deficiency (ORPHA:331235)
- Self-improving dystrophic epidermolysis bullosa (ORPHA:79411)
- Semilobar holoprosencephaly (ORPHA:220386)
- SERKAL syndrome (ORPHA:139466)
- Severe congenital hypochromic anemia with ringed sideroblasts (ORPHA:300298)
- Severe generalized junctional epidermolysis bullosa (ORPHA:79404)
- Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (ORPHA:466688)
- 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-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
- Short stature, Brussels type (ORPHA:2867)
- Shwachman-Diamond syndrome (ORPHA:811)
- Smith-Lemli-Opitz syndrome (ORPHA:818)
- Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
- Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
- STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORPHA:391487)
- Sudden infant death-dysgenesis of the testes syndrome (ORPHA:168593)
- Systemic-onset juvenile idiopathic arthritis (ORPHA:85414)
- Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
- Thyroid ectopia (ORPHA:95712)
- Thyroid hemiagenesis (ORPHA:95719)
- Thyroid hypoplasia (ORPHA:95720)
- TMEM70-related mitochondrial encephalo-cardio-myopathy (ORPHA:1194)
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome (ORPHA:3363)
- Trichorhinophalangeal syndrome type 2 (ORPHA:502)
- Trisomy 10p syndrome (ORPHA:171929)
- Trisomy 17p syndrome (ORPHA:261290)
- Trisomy 18 syndrome (ORPHA:3380)
- Turner syndrome (ORPHA:881)
- Turner syndrome due to structural X chromosome anomalies (ORPHA:99413)
- Ulnar/fibula ray defect-brachydactyly syndrome (ORPHA:52056)
- Unstable beta globin chain variant disease (ORPHA:231226)
- Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
- VPS11-related autosomal recessive hypomyelinating leukodystrophy (ORPHA:466934)
- Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
- Wolcott-Rallison syndrome (ORPHA:1667)
- Wolman disease (ORPHA:75233)
- Woodhouse-Sakati syndrome (ORPHA:3464)
- X small rings syndrome (ORPHA:96201)
- X-linked alpha-thalassemia-intellectual disability syndrome (ORPHA:847)
- X-linked hypophosphatemia (ORPHA:89936)
- X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome (ORPHA:459070)
- X-linked intellectual disability, Golabi-Ito-Hall type (ORPHA:93947)
- X-linked intellectual disability, Wilson type (ORPHA:85290)
- X-linked sideroblastic anemia and spinocerebellar ataxia (ORPHA:2802)
- Xp21 deletion syndrome (ORPHA:261476)
- Xq21 microdeletion syndrome (ORPHA:1435)
- XYLT1-CDG (ORPHA:370930)
- Zimmermann-Laband syndrome (ORPHA:3473)