Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the anterior pituitary (HP:0011747)help
Grandparent Node:
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Neoplasm of the pituitary gland (HP:0040277)help
Parent Node:
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Neoplasm of the anterior pituitary (HP:0011750)help
..Starting node
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Pituitary adenoma (HP:0002893)help
Term ID: 2893
Name: Pituitary adenoma
Synonym: Noncancerous tumor in pituitary gland; Noncancerous tumour in pituitary gland; Pituitary gland adenoma
Definition: A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary).
Comments:
Reference: HP:0002893
Genes and Diseases:
 
       Child Nodes:
........expandPituitary prolactin cell adenoma (HP:0006767) help
................... HP:0012341 Microprolactinoma
................... HP:0012342 Macroprolactinoma
........expandPituitary corticotropic cell adenoma (HP:0008291) help
........expandPituitary acidophilic stem cell adenoma (HP:0011758) help
........expandPituitary gonadotropic cell adenoma (HP:0011759) help
........expandPituitary growth hormone cell adenoma (HP:0011760) help
........expandPituitary null cell adenoma (HP:0011761) help
........expandPituitary thyrotropic cell adenoma (HP:0011762) help

 Sister Nodes: 
..expandPituitary carcinoma (HP:0011763) help
..expandPituitary spindle cell oncocytoma (HP:0011764) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002893HP:0002893Pituitary adenoma0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0002893HP:0002893Pituitary adenoma0AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.95
HP:0002893HP:0002893Pituitary adenoma0AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 1.95
HP:0002893HP:0002893Pituitary adenoma0AIP CL E G H9049358ORPHA:99725Pituitary gigantism95
HP:0002893HP:0002893Pituitary adenoma0ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney disease
HP:0002893HP:0002893Pituitary adenoma0ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney disease93
HP:0002893HP:0002893Pituitary adenoma0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040284 - Very rare3179
HP:0002893HP:0002893Pituitary adenoma0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0002893HP:0002893Pituitary adenoma0ATRX CL E G H546886ORPHA:96253Cushing diseaseHP:0040281 - Very frequent169
HP:0002893HP:0002893Pituitary adenoma0BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney disease5
HP:0002893HP:0002893Pituitary adenoma0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional385
HP:0002893HP:0002893Pituitary adenoma0BRAF CL E G H6731097ORPHA:96253Cushing diseaseHP:0040281 - Very frequent276
HP:0002893HP:0002893Pituitary adenoma0CDH23 CL E G H6407213733ORPHA:96253Cushing diseaseHP:0040281 - Very frequent636
HP:0002893HP:0002893Pituitary adenoma0CDH23 CL E G H6407213733OMIM:617540Pituitary adenoma 5, multiple types.636
HP:0002893HP:0002893Pituitary adenoma0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent2
HP:0002893HP:0002893Pituitary adenoma0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent102
HP:0002893HP:0002893Pituitary adenoma0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0002893HP:0002893Pituitary adenoma0CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV.102
HP:0002893HP:0002893Pituitary adenoma0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent1
HP:0002893HP:0002893Pituitary adenoma0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent
HP:0002893HP:0002893Pituitary adenoma0DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney disease
HP:0002893HP:0002893Pituitary adenoma0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040283 - Occasional170
HP:0002893HP:0002893Pituitary adenoma0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040283 - Occasional15
HP:0002893HP:0002893Pituitary adenoma0GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney disease6
HP:0002893HP:0002893Pituitary adenoma0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0002893HP:0002893Pituitary adenoma0GNAS CL E G H27784392OMIM:174800McCune-Albright syndrome, somatic, mosaic.101
HP:0002893HP:0002893Pituitary adenoma0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0002893HP:0002893Pituitary adenoma0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0002893HP:0002893Pituitary adenoma0GPR101 CL E G H8355014963OMIM:300943PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING; PITA25
HP:0002893HP:0002893Pituitary adenoma0IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040283 - Occasional15
HP:0002893HP:0002893Pituitary adenoma0IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040283 - Occasional29
HP:0002893HP:0002893Pituitary adenoma0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare23
HP:0002893HP:0002893Pituitary adenoma0IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney disease148
HP:0002893HP:0002893Pituitary adenoma0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040283 - Occasional196
HP:0002893HP:0002893Pituitary adenoma0MEN1 CL E G H42217010ORPHA:97279Insulinoma462
HP:0002893HP:0002893Pituitary adenoma0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0002893HP:0002893Pituitary adenoma0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent462
HP:0002893HP:0002893Pituitary adenoma0MEN1 CL E G H42217010ORPHA:99725Pituitary gigantism462
HP:0002893HP:0002893Pituitary adenoma0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040283 - Occasional1819
HP:0002893HP:0002893Pituitary adenoma0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040283 - Occasional131
HP:0002893HP:0002893Pituitary adenoma0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040283 - Occasional2162
HP:0002893HP:0002893Pituitary adenoma0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040283 - Occasional2232
HP:0002893HP:0002893Pituitary adenoma0NR3C1 CL E G H29087978ORPHA:96253Cushing diseaseHP:0040281 - Very frequent79
HP:0002893HP:0002893Pituitary adenoma0PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040282 - Frequent13
HP:0002893HP:0002893Pituitary adenoma0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0002893HP:0002893Pituitary adenoma0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0002893HP:0002893Pituitary adenoma0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040283 - Occasional162
HP:0002893HP:0002893Pituitary adenoma0PKD1 CL E G H53109008ORPHA:730Autosomal dominant polycystic kidney disease342
HP:0002893HP:0002893Pituitary adenoma0PKD2 CL E G H53119009ORPHA:730Autosomal dominant polycystic kidney disease106
HP:0002893HP:0002893Pituitary adenoma0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040283 - Occasional56
HP:0002893HP:0002893Pituitary adenoma0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040283 - Occasional1121
HP:0002893HP:0002893Pituitary adenoma0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0002893HP:0002893Pituitary adenoma0PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040282 - Frequent134
HP:0002893HP:0002893Pituitary adenoma0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1.134
HP:0002893HP:0002893Pituitary adenoma0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0002893HP:0002893Pituitary adenoma0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional1
HP:0002893HP:0002893Pituitary adenoma0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional48
HP:0002893HP:0002893Pituitary adenoma0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040283 - Occasional253
HP:0002893HP:0002893Pituitary adenoma0TP53 CL E G H715711998ORPHA:96253Cushing diseaseHP:0040281 - Very frequent911
HP:0002893HP:0002893Pituitary adenoma0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare1090
HP:0002893HP:0002893Pituitary adenoma0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare2738
HP:0002893HP:0002893Pituitary adenoma0USP48 CL E G H8419618533ORPHA:96253Cushing diseaseHP:0040281 - Very frequent1
HP:0002893HP:0002893Pituitary adenoma0USP8 CL E G H910112631ORPHA:96253Cushing diseaseHP:0040281 - Very frequent7
HP:0002893HP:0002893Pituitary adenoma0USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.7
HP:0002893HP:0002893Pituitary adenoma0YY1 CL E G H752812856ORPHA:97279Insulinoma7
HP:0002893HP:0025694Pituitary microadenoma1 CL E G H
HP:0002893HP:0025693Pituitary macroadenoma1 CL E G H
HP:0002893HP:0011758Pituitary acidophilic stem cell adenoma1 CL E G H
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0002893HP:0006767Pituitary prolactin cell adenoma1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040283 - Occasional95
HP:0002893HP:0006767Pituitary prolactin cell adenoma1AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 1.95
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 1.95
HP:0002893HP:0006767Pituitary prolactin cell adenoma1AIP CL E G H9049358ORPHA:99725Pituitary gigantismHP:0040282 - Frequent95
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1AIP CL E G H9049358ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent95
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1ALG5 CL E G H2988020266ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040284 - Very rare
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1ALG9 CL E G H7979615672ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040284 - Very rare93
HP:0002893HP:0008291Pituitary corticotropic cell adenoma1ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1BICC1 CL E G H8011419351ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040284 - Very rare5
HP:0002893HP:0008291Pituitary corticotropic cell adenoma1BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0002893HP:0008291Pituitary corticotropic cell adenoma1CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0002893HP:0011761Pituitary null cell adenoma1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare2
HP:0002893HP:0008291Pituitary corticotropic cell adenoma1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare2
HP:0002893HP:0006767Pituitary prolactin cell adenoma1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent2
HP:0002893HP:0011762Pituitary thyrotropic cell adenoma1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare2
HP:0002893HP:0011759Pituitary gonadotropic cell adenoma1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare2
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0002893HP:0011761Pituitary null cell adenoma1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare102
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0002893HP:0011762Pituitary thyrotropic cell adenoma1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare102
HP:0002893HP:0011759Pituitary gonadotropic cell adenoma1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare102
HP:0002893HP:0006767Pituitary prolactin cell adenoma1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent102
HP:0002893HP:0008291Pituitary corticotropic cell adenoma1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare102
HP:0002893HP:0008291Pituitary corticotropic cell adenoma1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040283 - Occasional102
HP:0002893HP:0011761Pituitary null cell adenoma1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0002893HP:0006767Pituitary prolactin cell adenoma1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0002893HP:0008291Pituitary corticotropic cell adenoma1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare1
HP:0002893HP:0011759Pituitary gonadotropic cell adenoma1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare1
HP:0002893HP:0011762Pituitary thyrotropic cell adenoma1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare1
HP:0002893HP:0011761Pituitary null cell adenoma1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare1
HP:0002893HP:0006767Pituitary prolactin cell adenoma1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent1
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0002893HP:0011761Pituitary null cell adenoma1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare
HP:0002893HP:0011759Pituitary gonadotropic cell adenoma1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare
HP:0002893HP:0011762Pituitary thyrotropic cell adenoma1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0002893HP:0008291Pituitary corticotropic cell adenoma1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare
HP:0002893HP:0006767Pituitary prolactin cell adenoma1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1DNAJB11 CL E G H5172614889ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040284 - Very rare
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1GANAB CL E G H231934138ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040284 - Very rare6
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040281 - Very frequent5
HP:0002893HP:0006767Pituitary prolactin cell adenoma1GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040283 - Occasional5
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1IFT140 CL E G H974229077ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040284 - Very rare148
HP:0002893HP:0006767Pituitary prolactin cell adenoma1MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040282 - Frequent462
HP:0002893HP:0006767Pituitary prolactin cell adenoma1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1.462
HP:0002893HP:0008291Pituitary corticotropic cell adenoma1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare462
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0002893HP:0011761Pituitary null cell adenoma1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare462
HP:0002893HP:0006767Pituitary prolactin cell adenoma1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent462
HP:0002893HP:0011762Pituitary thyrotropic cell adenoma1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare462
HP:0002893HP:0011759Pituitary gonadotropic cell adenoma1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare462
HP:0002893HP:0006767Pituitary prolactin cell adenoma1MEN1 CL E G H42217010ORPHA:99725Pituitary gigantismHP:0040282 - Frequent462
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1MEN1 CL E G H42217010ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent462
HP:0002893HP:0008291Pituitary corticotropic cell adenoma1NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040282 - Frequent13
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1PKD1 CL E G H53109008ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040284 - Very rare342
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1PKD2 CL E G H53119009ORPHA:730Autosomal dominant polycystic kidney diseaseHP:0040284 - Very rare106
HP:0002893HP:0011760Pituitary growth hormone cell adenoma1PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040282 - Frequent134
HP:0002893HP:0008291Pituitary corticotropic cell adenoma1TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0002893HP:0008291Pituitary corticotropic cell adenoma1USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0002893HP:0008291Pituitary corticotropic cell adenoma1USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0002893HP:0006767Pituitary prolactin cell adenoma1YY1 CL E G H752812856ORPHA:97279InsulinomaHP:0040282 - Frequent7
HP:0002893HP:0012342Macroprolactinoma2 CL E G H
HP:0002893HP:0012341Microprolactinoma2 CL E G H


Genes (49) :AIP ALG5 ALG9 APC ARMC5 ATRX BICC1 BMPR1A BRAF CDH23 CDKN1A CDKN1B CDKN2B CDKN2C DNAJB11 EPCAM FAN1 GANAB GNAS GPR101 IDH1 IDH2 IFNG IFT140 KRAS MEN1 MLH1 MLH3 MSH2 MSH6 NR3C1 PDE11A PDE8B PIK3CA PKD1 PKD2 PMS1 PMS2 PRKACA PRKAR1A RPS20 SEMA4A TGFBR2 TP53 TSC1 TSC2 USP48 USP8 YY1

Diseases (24) :ORPHA:963 OMIM:219090 OMIM:102200 ORPHA:99725 ORPHA:730 ORPHA:99818 ORPHA:189427 ORPHA:96253 ORPHA:440437 OMIM:617540 ORPHA:652 ORPHA:276152 OMIM:610755 ORPHA:144 OMIM:174800 OMIM:300942 OMIM:300943 ORPHA:163634 ORPHA:805 ORPHA:97279 OMIM:131100 ORPHA:1359 ORPHA:189439 OMIM:160980
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.