Human Phenotype Ontology 
Grandparent Node:
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Abnormality of multiple cell lineages in the bone marrow (HP:0012145)help
Parent Node:
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Pancytopenia (HP:0001876)help
..Starting node
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Aplastic anemia (HP:0001915)help
Term ID: 1915
Name: Aplastic anemia
Synonym: Aplastic anaemia
Definition: Aplastic anemia is defined as pancytopenia with a hypocellular marrow.
Comments:
Reference: HP:0001915
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001915HP:0001915Aplastic anemia0ACD CL E G H6505725070OMIM:616553Dyskeratosis congenita, autosomal dominant 6.11
HP:0001915HP:0001915Aplastic anemia0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040284 - Very rare2
HP:0001915HP:0001915Aplastic anemia0CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0001915HP:0001915Aplastic anemia0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional38
HP:0001915HP:0001915Aplastic anemia0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0001915HP:0001915Aplastic anemia0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional5
HP:0001915HP:0001915Aplastic anemia0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional1
HP:0001915HP:0001915Aplastic anemia0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional79
HP:0001915HP:0001915Aplastic anemia0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0001915HP:0001915Aplastic anemia0GATA2 CL E G H26244171OMIM:614172Immunodeficiency 21HP:0040283 - Occasional137
HP:0001915HP:0001915Aplastic anemia0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional56
HP:0001915HP:0001915Aplastic anemia0HOXA11 CL E G H32075101OMIM:605432Radioulnar synostosis with amegakaryocytic thrombocytopenia.3
HP:0001915HP:0001915Aplastic anemia0IFNG CL E G H34585438OMIM:609135APLASTIC ANEMIA23
HP:0001915HP:0001915Aplastic anemia0NBN CL E G H46837652OMIM:609135APLASTIC ANEMIA706
HP:0001915HP:0001915Aplastic anemia0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 1.27
HP:0001915HP:0001915Aplastic anemia0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 1.17
HP:0001915HP:0001915Aplastic anemia0PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N.1349
HP:0001915HP:0001915Aplastic anemia0PRF1 CL E G H55519360OMIM:609135APLASTIC ANEMIA58
HP:0001915HP:0001915Aplastic anemia0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040284 - Very rare445
HP:0001915HP:0001915Aplastic anemia0SBDS CL E G H5111919440OMIM:609135APLASTIC ANEMIA26
HP:0001915HP:0001915Aplastic anemia0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional26
HP:0001915HP:0001915Aplastic anemia0SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0001915HP:0001915Aplastic anemia0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional
HP:0001915HP:0001915Aplastic anemia0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional
HP:0001915HP:0001915Aplastic anemia0SRP72 CL E G H673111303OMIM:614675Bone marrow failure syndrome 1.68
HP:0001915HP:0001915Aplastic anemia0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional82
HP:0001915HP:0001915Aplastic anemia0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0001915HP:0001915Aplastic anemia0TERC CL E G H701211727OMIM:614743Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2.48
HP:0001915HP:0001915Aplastic anemia0TERT CL E G H701511730OMIM:609135APLASTIC ANEMIA238
HP:0001915HP:0001915Aplastic anemia0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2.238
HP:0001915HP:0001915Aplastic anemia0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0001915HP:0001915Aplastic anemia0TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0001915HP:0001915Aplastic anemia0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 3.60
HP:0001915HP:0001915Aplastic anemia0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0001915HP:0001915Aplastic anemia0TINF2 CL E G H2627711824OMIM:268130Revesz syndrome.60
HP:0001915HP:0001915Aplastic anemia0XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0001915HP:0001915Aplastic anemia0XIAP CL E G H331592OMIM:300635Lymphoproliferative syndrome, X-linked, 2HP:0040284 - Very rare81


Genes (27) :ACD ANAPC1 CD27 CLPB DNAJC21 EFL1 ELANE FANCB GATA2 GFI1 HOXA11 IFNG NBN NHP2 NOP10 PALB2 PRF1 RECQL4 SBDS SH2D1A SRP54 SRP72 TCIRG1 TERC TERT TINF2 XIAP

Diseases (22) :OMIM:616553 ORPHA:221008 OMIM:615122 ORPHA:486 OMIM:617052 ORPHA:811 OMIM:300514 OMIM:614172 OMIM:605432 OMIM:609135 OMIM:224230 OMIM:610832 ORPHA:221016 OMIM:308240 OMIM:614675 OMIM:127550 OMIM:614743 OMIM:613989 OMIM:614742 OMIM:613990 OMIM:268130 OMIM:300635
 

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