Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the immune system (HP:0002715)help
Parent Node:
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Abnormality of immune system physiology (HP:0010978)help
..Starting node
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Sepsis (HP:0100806)help
Term ID: 100806
Name: Sepsis
Synonym: Infection in blood stream
Definition: Systemic inflammatory response to infection.
Comments:
Reference: HP:0100806
Genes and Diseases:
 
       Child Nodes:
........expandNeonatal sepsis (HP:0040187) help

 Sister Nodes: 
..expandAbnormal inflammatory response (HP:0012647) help
..expandAbnormal lymphocyte physiology (HP:0031409) help
..expandAbnormal lymphocyte surface marker expression (HP:0031383) help
..expandAbnormal MHC II surface expression (HP:0031389) help
..expandAbnormality of humoral immunity (HP:0005368) help
..expandAbnormality of immune serum protein physiology (HP:0011111) help
..expandAutoimmunity (HP:0002960) help
..expandChronic infection (HP:0031035) help
..expandImmune dysregulation (HP:0002958) help
..expandImmunodeficiency (HP:0002721) help
..expandImmunologic hypersensitivity (HP:0100326) help
..expandImpaired antigen-specific response (HP:0031404) help
..expandOpportunistic infection (HP:0031690) help
..expandRecurrent infections (HP:0002719) 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:0100806HP:0100806Sepsis0ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional130
HP:0100806HP:0100806Sepsis0ABCA3 CL E G H2133ORPHA:70587Infant acute respiratory distress syndromeHP:0040284 - Very rare147
HP:0100806HP:0100806Sepsis0ABCD1 CL E G H21561ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional135
HP:0100806HP:0100806Sepsis0ACTG2 CL E G H72145ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040283 - Occasional23
HP:0100806HP:0100806Sepsis0ADA CL E G H100186ORPHA:39041Omenn syndromeHP:0040283 - Occasional75
HP:0100806HP:0100806Sepsis0AK2 CL E G H204362OMIM:267500Reticular dysgenesia19
HP:0100806HP:0100806Sepsis0AK2 CL E G H204362ORPHA:33355Reticular dysgenesisHP:0040281 - Very frequent19
HP:0100806HP:0100806Sepsis0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040283 - Occasional58
HP:0100806HP:0100806Sepsis0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040284 - Very rare68
HP:0100806HP:0100806Sepsis0ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional75
HP:0100806HP:0100806Sepsis0ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional63
HP:0100806HP:0100806Sepsis0APC CL E G H324583ORPHA:873Desmoid tumorHP:0040283 - Occasional3179
HP:0100806HP:0100806Sepsis0ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional1
HP:0100806HP:0100806Sepsis0ATP7A CL E G H538869ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional192
HP:0100806HP:0100806Sepsis0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040283 - Occasional192
HP:0100806HP:0100806Sepsis0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional4
HP:0100806HP:0100806Sepsis0BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked109
HP:0100806HP:0100806Sepsis0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040282 - Frequent109
HP:0100806HP:0100806Sepsis0CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0100806HP:0100806Sepsis0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0100806HP:0100806Sepsis0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional9
HP:0100806HP:0100806Sepsis0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional6
HP:0100806HP:0100806Sepsis0CHD7 CL E G H5563620626ORPHA:39041Omenn syndromeHP:0040283 - Occasional515
HP:0100806HP:0100806Sepsis0COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0100806HP:0100806Sepsis0COX8A CL E G H13512294OMIM:619059MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN151
HP:0100806HP:0100806Sepsis0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040283 - Occasional20
HP:0100806HP:0100806Sepsis0CTLA4 CL E G H14932505OMIM:616100AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS510
HP:0100806HP:0100806Sepsis0CTNNB1 CL E G H14992514ORPHA:873Desmoid tumorHP:0040283 - Occasional88
HP:0100806HP:0100806Sepsis0CXCR4 CL E G H78522561ORPHA:51636WHIM syndromeHP:0040284 - Very rare9
HP:0100806HP:0100806Sepsis0CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional27
HP:0100806HP:0100806Sepsis0CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional111
HP:0100806HP:0100806Sepsis0CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional
HP:0100806HP:0100806Sepsis0CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional54
HP:0100806HP:0100806Sepsis0DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndromeHP:0040283 - Occasional94
HP:0100806HP:0100806Sepsis0DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation94
HP:0100806HP:0100806Sepsis0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0100806HP:0100806Sepsis0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare5
HP:0100806HP:0100806Sepsis0ECE1 CL E G H18893146ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional13
HP:0100806HP:0100806Sepsis0EDN3 CL E G H19083178ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional67
HP:0100806HP:0100806Sepsis0EDNRB CL E G H19103180ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional55
HP:0100806HP:0100806Sepsis0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare1
HP:0100806HP:0100806Sepsis0ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040284 - Very rare79
HP:0100806HP:0100806Sepsis0ERBB2 CL E G H20643430ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional77
HP:0100806HP:0100806Sepsis0ERBB3 CL E G H20653431ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional12
HP:0100806HP:0100806Sepsis0FCGR3B CL E G H22153620ORPHA:464370Neonatal alloimmune neutropeniaHP:0040283 - Occasional5
HP:0100806HP:0100806Sepsis0FERMT3 CL E G H8370623151OMIM:612840Leukocyte adhesion deficiency, type III23
HP:0100806HP:0100806Sepsis0FOCAD CL E G H5491423377OMIM:6199913
HP:0100806HP:0100806Sepsis0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040284 - Very rare32
HP:0100806HP:0100806Sepsis0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.HP:0003623 - Neonatal onset37
HP:0100806HP:0100806Sepsis0GALM CL E G H13058924063ORPHA:570422Galactose mutarotase deficiencyHP:0040284 - Very rare
HP:0100806HP:0100806Sepsis0GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040283 - Occasional351
HP:0100806HP:0100806Sepsis0GDNF CL E G H26684232ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional59
HP:0100806HP:0100806Sepsis0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100806HP:0100806Sepsis0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100806HP:0100806Sepsis0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional4
HP:0100806HP:0100806Sepsis0HMOX1 CL E G H31625013OMIM:614034HEME OXYGENASE 1 DEFICIENCY; HMOX1D3
HP:0100806HP:0100806Sepsis0HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia.
HP:0100806HP:0100806Sepsis0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0100806HP:0100806Sepsis0IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0100806HP:0100806Sepsis0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional7
HP:0100806HP:0100806Sepsis0IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0100806HP:0100806Sepsis0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional3
HP:0100806HP:0100806Sepsis0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional8
HP:0100806HP:0100806Sepsis0IL2RG CL E G H35616010ORPHA:39041Omenn syndromeHP:0040283 - Occasional48
HP:0100806HP:0100806Sepsis0IL2RG CL E G H35616010ORPHA:276T-B+ severe combined immunodeficiency due to gamma chain deficiencyHP:0040282 - Frequent48
HP:0100806HP:0100806Sepsis0IL7R CL E G H35756024ORPHA:39041Omenn syndromeHP:0040283 - Occasional94
HP:0100806HP:0100806Sepsis0IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency94
HP:0100806HP:0100806Sepsis0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional110
HP:0100806HP:0100806Sepsis0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional173
HP:0100806HP:0100806Sepsis0KRT5 CL E G H38526442OMIM:619599EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED, INTERMEDIATE OR SEVERE, AUTOSOMAL RECESSIVE; EBS2D173
HP:0100806HP:0100806Sepsis0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0100806HP:0100806Sepsis0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0100806HP:0100806Sepsis0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0100806HP:0100806Sepsis0LIG4 CL E G H39816601ORPHA:39041Omenn syndromeHP:0040283 - Occasional88
HP:0100806HP:0100806Sepsis0LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional1
HP:0100806HP:0100806Sepsis0LMOD1 CL E G H258026647ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040283 - Occasional
HP:0100806HP:0100806Sepsis0LMOD1 CL E G H258026647OMIM:619362MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0100806HP:0100806Sepsis0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0100806HP:0100806Sepsis0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional3
HP:0100806HP:0100806Sepsis0MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0HP:0040283 - Occasional
HP:0100806HP:0100806Sepsis0MNX1 CL E G H31104979OMIM:176450Currarino syndrome.17
HP:0100806HP:0100806Sepsis0MRTFA CL E G H5759114334OMIM:618847IMMUNODEFICIENCY 66; IMD66
HP:0100806HP:0100806Sepsis0MYD88 CL E G H46157562OMIM:612260MYD88 DEFICIENCY; MYD88D9
HP:0100806HP:0100806Sepsis0MYH11 CL E G H46297569ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040283 - Occasional418
HP:0100806HP:0100806Sepsis0MYLK CL E G H46387590ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040283 - Occasional326
HP:0100806HP:0100806Sepsis0NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional13
HP:0100806HP:0100806Sepsis0NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional67
HP:0100806HP:0100806Sepsis0NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional37
HP:0100806HP:0100806Sepsis0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040283 - Occasional11
HP:0100806HP:0100806Sepsis0NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional60
HP:0100806HP:0100806Sepsis0NRTN CL E G H49028007ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional4
HP:0100806HP:0100806Sepsis0PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger)62
HP:0100806HP:0100806Sepsis0PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040282 - Frequent15
HP:0100806HP:0100806Sepsis0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional43
HP:0100806HP:0100806Sepsis0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040283 - Occasional107
HP:0100806HP:0100806Sepsis0RAC2 CL E G H58809802OMIM:618986IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B9
HP:0100806HP:0100806Sepsis0RAG1 CL E G H58969831ORPHA:231154Combined immunodeficiency due to partial RAG1 deficiencyHP:0040281 - Very frequent127
HP:0100806HP:0100806Sepsis0RAG1 CL E G H58969831ORPHA:39041Omenn syndromeHP:0040283 - Occasional127
HP:0100806HP:0100806Sepsis0RAG2 CL E G H58979832ORPHA:39041Omenn syndromeHP:0040283 - Occasional50
HP:0100806HP:0100806Sepsis0RET CL E G H59799967ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional572
HP:0100806HP:0100806Sepsis0RMRP CL E G H602310031ORPHA:39041Omenn syndromeHP:0040283 - Occasional37
HP:0100806HP:0100806Sepsis0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0100806HP:0100806Sepsis0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0100806HP:0100806Sepsis0SASH3 CL E G H5444015975OMIM:3010821
HP:0100806HP:0100806Sepsis0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare26
HP:0100806HP:0100806Sepsis0SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional2
HP:0100806HP:0100806Sepsis0SEMA3C CL E G H1051210725ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional1
HP:0100806HP:0100806Sepsis0SEMA3D CL E G H22311710726ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional2
HP:0100806HP:0100806Sepsis0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome47
HP:0100806HP:0100806Sepsis0SFTPB CL E G H643910801ORPHA:70587Infant acute respiratory distress syndromeHP:0040284 - Very rare51
HP:0100806HP:0100806Sepsis0SFTPC CL E G H644010802ORPHA:70587Infant acute respiratory distress syndromeHP:0040284 - Very rare33
HP:0100806HP:0100806Sepsis0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0100806HP:0100806Sepsis0SMO CL E G H660811119ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional22
HP:0100806HP:0100806Sepsis0SREBF1 CL E G H672011289ORPHA:388Hirschsprung diseaseHP:0040283 - Occasional1
HP:0100806HP:0100806Sepsis0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare
HP:0100806HP:0100806Sepsis0SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional4
HP:0100806HP:0100806Sepsis0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional2
HP:0100806HP:0100806Sepsis0TFRC CL E G H703711763OMIM:616740Immunodeficiency 461
HP:0100806HP:0100806Sepsis0TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosisHP:0040283 - Occasional98
HP:0100806HP:0100806Sepsis0TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040283 - Occasional56
HP:0100806HP:0100806Sepsis0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040283 - Occasional1
HP:0100806HP:0100806Sepsis0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0100806HP:0100806Sepsis0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional65
HP:0100806HP:0100806Sepsis0WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome65
HP:0100806HP:0100806Sepsis0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional6
HP:0100806HP:0100806Sepsis0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0100806HP:0040187Neonatal sepsis1COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040283 - Occasional67
HP:0100806HP:0040187Neonatal sepsis1G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0100806HP:0040187Neonatal sepsis1IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiencyHP:0040283 - Occasional94
HP:0100806HP:0040187Neonatal sepsis1SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47


Genes (115) :ABCA12 ABCA3 ABCD1 ACTG2 ADA AK2 ALG1 ALG12 ALOX12B ALOXE3 APC ASPRV1 ATP7A BLNK BTK CD27 CD40LG CD79A CD79B CHD7 COG4 COX8A CTCF CTLA4 CTNNB1 CXCR4 CYBA CYBB CYBC1 CYP4F22 DCLRE1C DEF6 DNAJC21 ECE1 EDN3 EDNRB EFL1 ELANE ERBB2 ERBB3 FCGR3B FERMT3 FOCAD FOXP3 G6PC3 GALM GALT GDNF GJB2 GJB6 HLA-B HMOX1 HYOU1 IDH1 IGHG2 IGHM IGKC IGLL1 IKZF1 IL2RG IL7R KRT14 KRT5 LAMA3 LAMB3 LAMC2 LIG4 LIPN LMOD1 LRBA LRRC8A MMUT MNX1 MRTFA MYD88 MYH11 MYLK NCF1 NCF2 NCF4 NFKB2 NIPAL4 NRTN PEX19 PGM3 PIK3R1 PKP1 RAC2 RAG1 RAG2 RET RMRP RNF13 SAMD9 SASH3 SBDS SDR9C7 SEMA3C SEMA3D SERAC1 SFTPB SFTPC SMARCD2 SMO SREBF1 SRP54 SULT2B1 TCF3 TFRC TGM1 TREX1 VPS33A WAS WIPF1 YARS1

Diseases (68) :ORPHA:313 ORPHA:70587 ORPHA:388 ORPHA:2241 ORPHA:39041 OMIM:267500 ORPHA:33355 ORPHA:79327 ORPHA:79324 ORPHA:873 ORPHA:565 ORPHA:33110 OMIM:300755 ORPHA:47 OMIM:615122 OMIM:308230 ORPHA:263501 OMIM:619059 ORPHA:363611 OMIM:616100 ORPHA:51636 ORPHA:379 OMIM:602450 OMIM:619573 ORPHA:811 ORPHA:2686 ORPHA:464370 OMIM:612840 OMIM:619991 ORPHA:37042 OMIM:612541 ORPHA:570422 ORPHA:79239 ORPHA:477 ORPHA:36426 OMIM:614034 OMIM:233600 ORPHA:99646 ORPHA:183675 ORPHA:276 ORPHA:169154 ORPHA:79396 OMIM:619599 ORPHA:79404 OMIM:619362 OMIM:614700 ORPHA:289916 OMIM:176450 OMIM:618847 OMIM:612260 ORPHA:293978 OMIM:614886 ORPHA:443811 ORPHA:158668 OMIM:618986 ORPHA:231154 ORPHA:544503 OMIM:617053 OMIM:301082 OMIM:614739 OMIM:617475 OMIM:616740 ORPHA:247691 ORPHA:505248 OMIM:617303 ORPHA:906 OMIM:301000 OMIM:619418
 

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