Human Phenotype Ontology 
Grandparent Node:
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Abnormal leukocyte morphology (HP:0001881)help
Parent Node:
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Abnormal leukocyte count (HP:0011893)help
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Leukopenia (HP:0001882)help
Term ID: 1882
Name: Leukopenia
Synonym: Decreased blood leukocyte number; Low white blood cell count
Definition: An abnormal decreased number of leukocytes in the blood.
Comments:
Reference: HP:0001882
Genes and Diseases:
 
       Child Nodes:
........expandLymphopenia (HP:0001888) help
................... HP:0005403 Decrease in T cell count
................... HP:0010976 B lymphocytopenia

 Sister Nodes: 
..expandAbnormal lymphocyte count (HP:0040088) help
..expandAbnormal monocyte count (HP:0012310) help
..expandAbnormal neutrophil count (HP:0011991) help
..expandLeukocytosis (HP:0001974) 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:0001882HP:0001882Leukopenia0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0001882HP:0001882Leukopenia0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0001882HP:0001882Leukopenia0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0001882HP:0001882Leukopenia0AK2 CL E G H204362OMIM:267500Reticular dysgenesia19
HP:0001882HP:0001882Leukopenia0AK2 CL E G H204362ORPHA:33355Reticular dysgenesisHP:0040281 - Very frequent19
HP:0001882HP:0001882Leukopenia0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0001882HP:0001882Leukopenia0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0001882HP:0001882Leukopenia0BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent101
HP:0001882HP:0001882Leukopenia0BLOC1S6 CL E G H262588549OMIM:614171Hermansky-Pudlak syndrome 9.35
HP:0001882HP:0001882Leukopenia0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040281 - Very frequent5769
HP:0001882HP:0001882Leukopenia0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040281 - Very frequent7642
HP:0001882HP:0001882Leukopenia0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040281 - Very frequent1086
HP:0001882HP:0001882Leukopenia0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040282 - Frequent1
HP:0001882HP:0001882Leukopenia0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0001882HP:0001882Leukopenia0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0001882HP:0001882Leukopenia0CTLA4 CL E G H14932505OMIM:152700Systemic lupus erythematosus.10
HP:0001882HP:0001882Leukopenia0DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to23
HP:0001882HP:0001882Leukopenia0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0001882HP:0001882Leukopenia0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0001882HP:0001882Leukopenia0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional5
HP:0001882HP:0001882Leukopenia0DNASE1 CL E G H17732956OMIM:152700Systemic lupus erythematosus.3
HP:0001882HP:0001882Leukopenia0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0001882HP:0001882Leukopenia0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional1
HP:0001882HP:0001882Leukopenia0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0001882HP:0001882Leukopenia0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0001882HP:0001882Leukopenia0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040281 - Very frequent158
HP:0001882HP:0001882Leukopenia0ERCC6L2 CL E G H37574826922OMIM:615715Bone marrow failure syndrome 2.4
HP:0001882HP:0001882Leukopenia0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040281 - Very frequent340
HP:0001882HP:0001882Leukopenia0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040281 - Very frequent58
HP:0001882HP:0001882Leukopenia0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040281 - Very frequent410
HP:0001882HP:0001882Leukopenia0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040281 - Very frequent147
HP:0001882HP:0001882Leukopenia0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040281 - Very frequent73
HP:0001882HP:0001882Leukopenia0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040281 - Very frequent87
HP:0001882HP:0001882Leukopenia0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0001882HP:0001882Leukopenia0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040281 - Very frequent73
HP:0001882HP:0001882Leukopenia0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040281 - Very frequent157
HP:0001882HP:0001882Leukopenia0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040281 - Very frequent53
HP:0001882HP:0001882Leukopenia0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040281 - Very frequent107
HP:0001882HP:0001882Leukopenia0FCGR2A CL E G H22123616OMIM:152700Systemic lupus erythematosus.6
HP:0001882HP:0001882Leukopenia0FCGR2B CL E G H22133618OMIM:152700Systemic lupus erythematosus.2
HP:0001882HP:0001882Leukopenia0FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0001882HP:0001882Leukopenia0FOCAD CL E G H5491423377OMIM:6199913
HP:0001882HP:0001882Leukopenia0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0001882HP:0001882Leukopenia0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional29
HP:0001882HP:0001882Leukopenia0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional29
HP:0001882HP:0001882Leukopenia0GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1HP:0040283 - Occasional
HP:0001882HP:0001882Leukopenia0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040282 - Frequent2
HP:0001882HP:0001882Leukopenia0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040283 - Occasional35
HP:0001882HP:0001882Leukopenia0IRAK1 CL E G H36546112ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent
HP:0001882HP:0001882Leukopenia0IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent4
HP:0001882HP:0001882Leukopenia0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0001882HP:0001882Leukopenia0ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0001882HP:0001882Leukopenia0IVD CL E G H37126186OMIM:243500Isovaleric acidemia.105
HP:0001882HP:0001882Leukopenia0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0001882HP:0001882Leukopenia0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome.239
HP:0001882HP:0001882Leukopenia0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040281 - Very frequent1
HP:0001882HP:0001882Leukopenia0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.
HP:0001882HP:0001882Leukopenia0MYSM1 CL E G H11480329401OMIM:618116Bone marrow failure syndrome 4.
HP:0001882HP:0001882Leukopenia0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040282 - Frequent
HP:0001882HP:0001882Leukopenia0NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0001882HP:0001882Leukopenia0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional452
HP:0001882HP:0001882Leukopenia0NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0001882HP:0001882Leukopenia0NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent
HP:0001882HP:0001882Leukopenia0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001882HP:0001882Leukopenia0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040281 - Very frequent1349
HP:0001882HP:0001882Leukopenia0PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0001882HP:0001882Leukopenia0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040283 - Occasional46
HP:0001882HP:0001882Leukopenia0PML CL E G H53719113ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent3
HP:0001882HP:0001882Leukopenia0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 2.58
HP:0001882HP:0001882Leukopenia0PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent134
HP:0001882HP:0001882Leukopenia0PTPN22 CL E G H261919652OMIM:152700Systemic lupus erythematosus.3
HP:0001882HP:0001882Leukopenia0RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0001882HP:0001882Leukopenia0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040281 - Very frequent9
HP:0001882HP:0001882Leukopenia0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040281 - Very frequent391
HP:0001882HP:0001882Leukopenia0RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent2
HP:0001882HP:0001882Leukopenia0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional3
HP:0001882HP:0001882Leukopenia0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040281 - Very frequent
HP:0001882HP:0001882Leukopenia0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0001882HP:0001882Leukopenia0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0001882HP:0001882Leukopenia0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0001882HP:0001882Leukopenia0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0001882HP:0001882Leukopenia0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0001882HP:0001882Leukopenia0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0001882HP:0001882Leukopenia0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0001882HP:0001882Leukopenia0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional11
HP:0001882HP:0001882Leukopenia0RPL35A CL E G H616510345OMIM:612528Diamond-Blackfan anemia 511
HP:0001882HP:0001882Leukopenia0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional40
HP:0001882HP:0001882Leukopenia0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional26
HP:0001882HP:0001882Leukopenia0RPS14 CL E G H620810387ORPHA:86841Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormalityHP:0040283 - Occasional
HP:0001882HP:0001882Leukopenia0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0001882HP:0001882Leukopenia0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional5
HP:0001882HP:0001882Leukopenia0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional42
HP:0001882HP:0001882Leukopenia0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0001882HP:0001882Leukopenia0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0001882HP:0001882Leukopenia0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0001882HP:0001882Leukopenia0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0001882HP:0001882Leukopenia0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0001882HP:0001882Leukopenia0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0001882HP:0001882Leukopenia0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0001882HP:0001882Leukopenia0RTEL1 CL E G H5175015888OMIM:615190Dyskeratosis congenita, autosomal recessive 5.77
HP:0001882HP:0001882Leukopenia0SAMD9 CL E G H548091348OMIM:617053Mirage syndromeHP:0040283 - Occasional8
HP:0001882HP:0001882Leukopenia0SARS2 CL E G H5493817697OMIM:613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome.60
HP:0001882HP:0001882Leukopenia0SASH3 CL E G H5444015975OMIM:3010821
HP:0001882HP:0001882Leukopenia0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional26
HP:0001882HP:0001882Leukopenia0SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 1HP:0040283 - Occasional77
HP:0001882HP:0001882Leukopenia0SLC46A1 CL E G H11323530521OMIM:229050Folate malabsorption, hereditary.101
HP:0001882HP:0001882Leukopenia0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040282 - Frequent104
HP:0001882HP:0001882Leukopenia0SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance.104
HP:0001882HP:0001882Leukopenia0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040281 - Very frequent274
HP:0001882HP:0001882Leukopenia0SPP1 CL E G H669611255ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent
HP:0001882HP:0001882Leukopenia0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional
HP:0001882HP:0001882Leukopenia0STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent110
HP:0001882HP:0001882Leukopenia0STAT4 CL E G H677511365ORPHA:93552Pediatric systemic lupus erythematosusHP:0040282 - Frequent2
HP:0001882HP:0001882Leukopenia0STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent12
HP:0001882HP:0001882Leukopenia0STING1 CL E G H34006127962OMIM:615934STING-associated vasculopathy, infantile-onset
HP:0001882HP:0001882Leukopenia0TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent22
HP:0001882HP:0001882Leukopenia0TBXAS1 CL E G H691611609OMIM:231095Ghosal hematodiaphyseal dysplasiaHP:0040283 - Occasional16
HP:0001882HP:0001882Leukopenia0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2.238
HP:0001882HP:0001882Leukopenia0TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040283 - Occasional13
HP:0001882HP:0001882Leukopenia0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 3.60
HP:0001882HP:0001882Leukopenia0TLR7 CL E G H5128415631OMIM:301080
HP:0001882HP:0001882Leukopenia0TREX1 CL E G H1127712269OMIM:152700Systemic lupus erythematosus.56
HP:0001882HP:0001882Leukopenia0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0001882HP:0001882Leukopenia0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040281 - Very frequent2
HP:0001882HP:0001882Leukopenia0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional41
HP:0001882HP:0001882Leukopenia0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0001882HP:0001882Leukopenia0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0001882HP:0001882Leukopenia0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040282 - Frequent1
HP:0001882HP:0001882Leukopenia0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0001882HP:0001882Leukopenia0VPS45 CL E G H1131114579OMIM:615285Neutropenia, severe congenital, 5, autosomal recessive.7
HP:0001882HP:0001882Leukopenia0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040281 - Very frequent125
HP:0001882HP:0001882Leukopenia0ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemiaHP:0040282 - Frequent1
HP:0001882HP:0001882Leukopenia0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS


Genes (125) :ADA2 ADH5 AK2 ARHGAP31 ATP6AP1 BCOR BLOC1S6 BRCA1 BRCA2 BRIP1 BTNL2 CA2 CLPB CTLA4 DDX41 DKC1 DLL4 DNAJC21 DNASE1 DOCK6 EFL1 EOGT EPG5 ERCC4 ERCC6L2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FCGR2A FCGR2B FIP1L1 FOCAD G6PC3 GATA1 GBA1 HLA-DRB1 HMGCL IRAK1 IRF2BP2 ISCU ITK IVD LIPA LYST MAD2L2 MMUT MYSM1 NABP1 NOTCH1 NPM1 NUMA1 OTUD5 PALB2 PGM3 PIGA PML PRF1 PRKAR1A PTPN22 RAC2 RAD51 RAD51C RARA RBPJ RFWD3 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTEL1 SAMD9 SARS2 SASH3 SBDS SCARB2 SLC46A1 SLC7A7 SLX4 SPP1 SRP54 STAT3 STAT4 STAT5B STING1 TBL1XR1 TBXAS1 TERT TGFB1 TINF2 TLR7 TREX1 TSR2 UBE2T UROS USB1 VPS13B VPS33A VPS45 XRCC2 ZBTB16 ZNF699

Diseases (60) :ORPHA:124 OMIM:615688 OMIM:619151 OMIM:267500 ORPHA:33355 ORPHA:974 OMIM:300972 ORPHA:520 OMIM:614171 ORPHA:84 ORPHA:797 ORPHA:2785 OMIM:616271 OMIM:152700 OMIM:616871 OMIM:305000 ORPHA:811 OMIM:242840 OMIM:615715 OMIM:603467 OMIM:619991 OMIM:612541 ORPHA:79277 ORPHA:77259 ORPHA:20 ORPHA:93552 OMIM:255125 OMIM:613011 OMIM:243500 OMIM:278000 OMIM:214500 OMIM:251000 OMIM:618116 ORPHA:508542 OMIM:301056 ORPHA:443811 ORPHA:447 OMIM:603553 OMIM:618986 OMIM:612528 ORPHA:86841 OMIM:615190 OMIM:617053 OMIM:613845 OMIM:301082 OMIM:229050 ORPHA:470 OMIM:222700 OMIM:615934 OMIM:231095 OMIM:613989 ORPHA:1328 OMIM:613990 OMIM:301080 OMIM:604173 OMIM:216550 ORPHA:505248 OMIM:617303 OMIM:615285 OMIM:619488
 

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