Human Phenotype Ontology 
Grandparent Node:
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Anemia (HP:0001903)help
Parent Node:
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Anemia of inadequate production (HP:0010972)help
..Starting node
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Hypochromic anemia (HP:0001931)help
Term ID: 1931
Name: Hypochromic anemia
Synonym: Hypochromic anaemia
Definition: A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.
Comments:
Reference: HP:0001931
Genes and Diseases:
 
       Child Nodes:
........expandIron deficiency anemia (HP:0001891) help
........expandHypochromic microcytic anemia (HP:0004840) help

 Sister Nodes: 
..expandHypoplastic anemia (HP:0001908) help
..expandMacrocytic anemia (HP:0001972) help
..expandMicrocytic anemia (HP:0001935) help
..expandNormochromic anemia (HP:0001895) help
..expandNormocytic anemia (HP:0001897) help
..expandSideroblastic anemia (HP:0001924) 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:0001931HP:0001931Hypochromic anemia0ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia35
HP:0001931HP:0001931Hypochromic anemia0ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0001931HP:0001931Hypochromic anemia0ALAS2 CL E G H212397OMIM:300751Anemia, sideroblastic, X-linked72
HP:0001931HP:0001931Hypochromic anemia0ALAS2 CL E G H212397OMIM:300752Protoporphyria, erythropoietic, X-linked72
HP:0001931HP:0001931Hypochromic anemia0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0001931HP:0001931Hypochromic anemia0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletion3179
HP:0001931HP:0001931Hypochromic anemia0ATRX CL E G H546886OMIM:300448ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS169
HP:0001931HP:0001931Hypochromic anemia0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0001931HP:0001931Hypochromic anemia0ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomach169
HP:0001931HP:0001931Hypochromic anemia0BCL11A CL E G H5333513221ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome11
HP:0001931HP:0001931Hypochromic anemia0C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001931HP:0001931Hypochromic anemia0CARD10 CL E G H2977516422OMIM:619632IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD895
HP:0001931HP:0001931Hypochromic anemia0CASP10 CL E G H8431500OMIM:603909Autoimmune lymphoproliferative syndrome, type IIA87
HP:0001931HP:0001931Hypochromic anemia0CD55 CL E G H16042665OMIM:226300Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy9
HP:0001931HP:0001931Hypochromic anemia0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0001931HP:0001931Hypochromic anemia0CLPX CL E G H108452088OMIM:618015Protoporphyria, erythropoietic, 2
HP:0001931HP:0001931Hypochromic anemia0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type284
HP:0001931HP:0001931Hypochromic anemia0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form263
HP:0001931HP:0001931Hypochromic anemia0CP CL E G H13562295ORPHA:48818Aceruloplasminemia115
HP:0001931HP:0001931Hypochromic anemia0DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomach
HP:0001931HP:0001931Hypochromic anemia0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0001931HP:0001931Hypochromic anemia0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndrome65
HP:0001931HP:0001931Hypochromic anemia0ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0001931HP:0001931Hypochromic anemia0ELMO2 CL E G H6391617233OMIM:606893Vascular malformation, primary intraosseous.3
HP:0001931HP:0001931Hypochromic anemia0FAS CL E G H35511920OMIM:601859Autoimmune lymphoproliferative syndrome59
HP:0001931HP:0001931Hypochromic anemia0FASLG CL E G H35611936OMIM:601859Autoimmune lymphoproliferative syndrome37
HP:0001931HP:0001931Hypochromic anemia0FGF23 CL E G H80743680ORPHA:89937Autosomal dominant hypophosphatemic rickets51
HP:0001931HP:0001931Hypochromic anemia0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type9
HP:0001931HP:0001931Hypochromic anemia0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome32
HP:0001931HP:0001931Hypochromic anemia0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001931HP:0001931Hypochromic anemia0GATA1 CL E G H26234170ORPHA:67044Thrombocytopenia with congenital dyserythropoietic anemiaHP:0040281 - Very frequent29
HP:0001931HP:0001931Hypochromic anemia0HBA1 CL E G H30394823OMIM:604131ALPHA-THALASSEMIA200
HP:0001931HP:0001931Hypochromic anemia0HBA2 CL E G H30404824OMIM:604131ALPHA-THALASSEMIA88
HP:0001931HP:0001931Hypochromic anemia0HBB CL E G H30434827OMIM:604131ALPHA-THALASSEMIA580
HP:0001931HP:0001931Hypochromic anemia0HBB CL E G H30434827OMIM:613985BETA-THALASSEMIA580
HP:0001931HP:0001931Hypochromic anemia0HBB CL E G H30434827ORPHA:231214Beta-thalassemia major580
HP:0001931HP:0001931Hypochromic anemia0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemia580
HP:0001931HP:0001931Hypochromic anemia0HBB CL E G H30434827ORPHA:2133Hemoglobin E disease580
HP:0001931HP:0001931Hypochromic anemia0HBB CL E G H30434827ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome580
HP:0001931HP:0001931Hypochromic anemia0HBB CL E G H30434827ORPHA:232Sickle cell anemiaHP:0040284 - Very rare580
HP:0001931HP:0001931Hypochromic anemia0HBB-LCR CL E G H109580095OMIM:613985BETA-THALASSEMIA1
HP:0001931HP:0001931Hypochromic anemia0HBG1 CL E G H30474831ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome35
HP:0001931HP:0001931Hypochromic anemia0HBG2 CL E G H30484832ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome50
HP:0001931HP:0001931Hypochromic anemia0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1
HP:0001931HP:0001931Hypochromic anemia0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1
HP:0001931HP:0001931Hypochromic anemia0HSCB CL E G H15027428913OMIM:619523ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001931HP:0001931Hypochromic anemia0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0001931HP:0001931Hypochromic anemia0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome.4
HP:0001931HP:0001931Hypochromic anemia0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001931HP:0001931Hypochromic anemia0KCNE1 CL E G H37536240ORPHA:90647Jervell and Lange-Nielsen syndrome148
HP:0001931HP:0001931Hypochromic anemia0KCNQ1 CL E G H37846294ORPHA:90647Jervell and Lange-Nielsen syndrome730
HP:0001931HP:0001931Hypochromic anemia0KLF1 CL E G H106616345ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome42
HP:0001931HP:0001931Hypochromic anemia0LPIN2 CL E G H966314450ORPHA:77297Majeed syndrome186
HP:0001931HP:0001931Hypochromic anemia0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form6
HP:0001931HP:0001931Hypochromic anemia0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0001931HP:0001931Hypochromic anemia0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0001931HP:0001931Hypochromic anemia0PLA2G4A CL E G H53219035OMIM:618372GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP2
HP:0001931HP:0001931Hypochromic anemia0PUS1 CL E G H8032415508OMIM:600462Myopathy, lactic acidosis, and sideroblastic anemia 1.57
HP:0001931HP:0001931Hypochromic anemia0SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040283 - Occasional19
HP:0001931HP:0001931Hypochromic anemia0SHPK CL E G H237291492ORPHA:440713Isolated sedoheptulokinase deficiency2
HP:0001931HP:0001931Hypochromic anemia0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0001931HP:0001931Hypochromic anemia0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0001931HP:0001931Hypochromic anemia0TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome
HP:0001931HP:0001931Hypochromic anemia0TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040283 - Occasional3
HP:0001931HP:0001931Hypochromic anemia0TF CL E G H701811740OMIM:209300ATRANSFERRINEMIA.45
HP:0001931HP:0001931Hypochromic anemia0TGFB1 CL E G H704011766OMIM:618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE13
HP:0001931HP:0001931Hypochromic anemia0TMPRSS6 CL E G H16465616517OMIM:206200IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA65
HP:0001931HP:0001931Hypochromic anemia0TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0001931HP:0001931Hypochromic anemia0WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome65
HP:0001931HP:0001931Hypochromic anemia0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0001931HP:0004840Hypochromic microcytic anemia1ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia.35
HP:0001931HP:0001891Iron deficiency anemia1ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0001931HP:0004840Hypochromic microcytic anemia1ALAS2 CL E G H212397OMIM:300751Anemia, sideroblastic, X-linked.72
HP:0001931HP:0001891Iron deficiency anemia1ALAS2 CL E G H212397OMIM:300752Protoporphyria, erythropoietic, X-linkedHP:0040283 - Occasional72
HP:0001931HP:0001891Iron deficiency anemia1ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0001931HP:0001891Iron deficiency anemia1APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040282 - Frequent3179
HP:0001931HP:0004840Hypochromic microcytic anemia1ATRX CL E G H546886OMIM:300448ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS169
HP:0001931HP:0004840Hypochromic microcytic anemia1ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0001931HP:0001891Iron deficiency anemia1ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomachHP:0040282 - Frequent169
HP:0001931HP:0004840Hypochromic microcytic anemia1BCL11A CL E G H5333513221ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome11
HP:0001931HP:0004840Hypochromic microcytic anemia1C2ORF69 CL E G H20532726799OMIM:619423COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0001931HP:0004840Hypochromic microcytic anemia1CARD10 CL E G H2977516422OMIM:619632IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD895
HP:0001931HP:0001891Iron deficiency anemia1CASP10 CL E G H8431500OMIM:603909Autoimmune lymphoproliferative syndrome, type IIA.87
HP:0001931HP:0001891Iron deficiency anemia1CD55 CL E G H16042665OMIM:226300Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy.9
HP:0001931HP:0001891Iron deficiency anemia1CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0001931HP:0001891Iron deficiency anemia1CLPX CL E G H108452088OMIM:618015Protoporphyria, erythropoietic, 2HP:0040284 - Very rare
HP:0001931HP:0001891Iron deficiency anemia1COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040284 - Very rare284
HP:0001931HP:0001891Iron deficiency anemia1COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040282 - Frequent263
HP:0001931HP:0004840Hypochromic microcytic anemia1CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040281 - Very frequent115
HP:0001931HP:0001891Iron deficiency anemia1DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomachHP:0040282 - Frequent
HP:0001931HP:0004840Hypochromic microcytic anemia1DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040282 - Frequent25
HP:0001931HP:0001891Iron deficiency anemia1EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040283 - Occasional65
HP:0001931HP:0001891Iron deficiency anemia1ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0001931HP:0001891Iron deficiency anemia1FAS CL E G H35511920OMIM:601859Autoimmune lymphoproliferative syndrome.59
HP:0001931HP:0001891Iron deficiency anemia1FASLG CL E G H35611936OMIM:601859Autoimmune lymphoproliferative syndrome.37
HP:0001931HP:0001891Iron deficiency anemia1FGF23 CL E G H80743680ORPHA:89937Autosomal dominant hypophosphatemic ricketsHP:0040282 - Frequent51
HP:0001931HP:0001891Iron deficiency anemia1FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040284 - Very rare9
HP:0001931HP:0001891Iron deficiency anemia1FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040282 - Frequent32
HP:0001931HP:0001891Iron deficiency anemia1GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001931HP:0004840Hypochromic microcytic anemia1HBA1 CL E G H30394823OMIM:604131ALPHA-THALASSEMIA.200
HP:0001931HP:0004840Hypochromic microcytic anemia1HBA2 CL E G H30404824OMIM:604131ALPHA-THALASSEMIA.88
HP:0001931HP:0004840Hypochromic microcytic anemia1HBB CL E G H30434827OMIM:604131ALPHA-THALASSEMIA.580
HP:0001931HP:0004840Hypochromic microcytic anemia1HBB CL E G H30434827OMIM:613985BETA-THALASSEMIA.580
HP:0001931HP:0004840Hypochromic microcytic anemia1HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040281 - Very frequent580
HP:0001931HP:0004840Hypochromic microcytic anemia1HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040282 - Frequent580
HP:0001931HP:0004840Hypochromic microcytic anemia1HBB CL E G H30434827ORPHA:2133Hemoglobin E diseaseHP:0040281 - Very frequent580
HP:0001931HP:0004840Hypochromic microcytic anemia1HBB CL E G H30434827ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome580
HP:0001931HP:0001891Iron deficiency anemia1HBB CL E G H30434827ORPHA:232Sickle cell anemiaHP:0040282 - Frequent580
HP:0001931HP:0004840Hypochromic microcytic anemia1HBB-LCR CL E G H109580095OMIM:613985BETA-THALASSEMIA.1
HP:0001931HP:0004840Hypochromic microcytic anemia1HBG1 CL E G H30474831ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome35
HP:0001931HP:0004840Hypochromic microcytic anemia1HBG2 CL E G H30484832ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome50
HP:0001931HP:0001891Iron deficiency anemia1HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0001931HP:0001891Iron deficiency anemia1HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0001931HP:0004840Hypochromic microcytic anemia1HSCB CL E G H15027428913OMIM:619523ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0001931HP:0004840Hypochromic microcytic anemia1KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001931HP:0001891Iron deficiency anemia1KCNE1 CL E G H37536240ORPHA:90647Jervell and Lange-Nielsen syndromeHP:0040283 - Occasional148
HP:0001931HP:0001891Iron deficiency anemia1KCNQ1 CL E G H37846294ORPHA:90647Jervell and Lange-Nielsen syndromeHP:0040283 - Occasional730
HP:0001931HP:0004840Hypochromic microcytic anemia1KLF1 CL E G H106616345ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome42
HP:0001931HP:0004840Hypochromic microcytic anemia1LPIN2 CL E G H966314450ORPHA:77297Majeed syndromeHP:0040281 - Very frequent186
HP:0001931HP:0001891Iron deficiency anemia1MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040282 - Frequent6
HP:0001931HP:0001891Iron deficiency anemia1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0001931HP:0004840Hypochromic microcytic anemia1OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0001931HP:0001891Iron deficiency anemia1PLA2G4A CL E G H53219035OMIM:618372GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP2
HP:0001931HP:0004840Hypochromic microcytic anemia1SHPK CL E G H237291492ORPHA:440713Isolated sedoheptulokinase deficiencyHP:0040282 - Frequent2
HP:0001931HP:0001891Iron deficiency anemia1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0001931HP:0001891Iron deficiency anemia1STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome.740
HP:0001931HP:0004840Hypochromic microcytic anemia1TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome
HP:0001931HP:0004840Hypochromic microcytic anemia1TMPRSS6 CL E G H16465616517OMIM:206200IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA65
HP:0001931HP:0004840Hypochromic microcytic anemia1TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0001931HP:0001891Iron deficiency anemia1WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome.65
HP:0001931HP:0001891Iron deficiency anemia1ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS


Genes (61) :ABCB7 ABCD3 ALAS2 ALG2 APC ATRX BCL11A C2ORF69 CARD10 CASP10 CD55 CLCNKB CLPX COL2A1 COL7A1 CP DAXX DNAJC19 EIF2AK3 ELF4 ELMO2 FAS FASLG FGF23 FN1 FOXP3 GALNT2 GATA1 HBA1 HBA2 HBB HBB-LCR HBG1 HBG2 HLA-DQA1 HLA-DQB1 HSCB IREB2 IRX5 KARS1 KCNE1 KCNQ1 KLF1 LPIN2 MMP1 NAA10 OSTM1 PLA2G4A PUS1 SF3B1 SHPK SLC12A3 STK11 TAFAZZIN TET2 TF TGFB1 TMPRSS6 TRNT1 WAS ZNF699

Diseases (55) :OMIM:301310 OMIM:616278 OMIM:300751 OMIM:300752 OMIM:607906 ORPHA:261584 OMIM:300448 OMIM:301040 ORPHA:100075 ORPHA:251380 OMIM:619423 OMIM:619632 OMIM:603909 OMIM:226300 ORPHA:358 OMIM:618015 ORPHA:93315 ORPHA:79408 ORPHA:48818 ORPHA:66634 ORPHA:1667 OMIM:301074 OMIM:606893 OMIM:601859 ORPHA:89937 ORPHA:37042 OMIM:618885 ORPHA:67044 OMIM:604131 OMIM:613985 ORPHA:231214 ORPHA:231226 ORPHA:2133 ORPHA:232 OMIM:212750 OMIM:619523 OMIM:618451 OMIM:611174 OMIM:619147 ORPHA:90647 ORPHA:77297 OMIM:300855 OMIM:259720 OMIM:618372 OMIM:600462 ORPHA:75564 ORPHA:440713 OMIM:175200 OMIM:302060 OMIM:209300 OMIM:618213 OMIM:206200 OMIM:616084 OMIM:301000 OMIM:619488
 

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