Human Phenotype Ontology 
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Abnormal circulating protein concentration (HP:0010876)help
Parent Node:
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Abnormal circulating albumin concentration (HP:0012116)help
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Hypoalbuminemia (HP:0003073)help
Term ID: 3073
Name: Hypoalbuminemia
Synonym: Hypoalbuminaemia; Low albumin; Low blood albumin
Definition: Reduction in the concentration of albumin in the blood.
Comments:
Reference: HP:0003073
Genes and Diseases:
 
       Child Nodes:

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..expandHyperalbuminemia (HP:0012117) 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:0003073HP:0003073Hypoalbuminemia0ACTN4 CL E G H81166OMIM:603278Focal segmental glomerulosclerosis 1.27
HP:0003073HP:0003073Hypoalbuminemia0ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional27
HP:0003073HP:0003073Hypoalbuminemia0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040281 - Very frequent31
HP:0003073HP:0003073Hypoalbuminemia0ALB CL E G H213399OMIM:616000Analbuminemia104
HP:0003073HP:0003073Hypoalbuminemia0ALB CL E G H213399ORPHA:86816Congenital analbuminemiaHP:0040281 - Very frequent104
HP:0003073HP:0003073Hypoalbuminemia0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040282 - Frequent58
HP:0003073HP:0003073Hypoalbuminemia0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0003073HP:0003073Hypoalbuminemia0ALG6 CL E G H2992923157ORPHA:79320ALG6-CDGHP:0040283 - Occasional66
HP:0003073HP:0003073Hypoalbuminemia0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih.46
HP:0003073HP:0003073Hypoalbuminemia0ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0003073HP:0003073Hypoalbuminemia0ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional6
HP:0003073HP:0003073Hypoalbuminemia0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0003073HP:0003073Hypoalbuminemia0APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0003073HP:0003073Hypoalbuminemia0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia61
HP:0003073HP:0003073Hypoalbuminemia0ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional4
HP:0003073HP:0003073Hypoalbuminemia0ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0003073HP:0003073Hypoalbuminemia0ARHGDIA CL E G H396678OMIM:615244Nephrotic syndrome, type 8.3
HP:0003073HP:0003073Hypoalbuminemia0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0003073HP:0003073Hypoalbuminemia0B2M CL E G H567914OMIM:241600Immunodeficiency 43.8
HP:0003073HP:0003073Hypoalbuminemia0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent385
HP:0003073HP:0003073Hypoalbuminemia0BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndrome.385
HP:0003073HP:0003073Hypoalbuminemia0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0003073HP:0003073Hypoalbuminemia0CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional105
HP:0003073HP:0003073Hypoalbuminemia0CD55 CL E G H16042665OMIM:226300Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy.9
HP:0003073HP:0003073Hypoalbuminemia0COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional161
HP:0003073HP:0003073Hypoalbuminemia0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040282 - Frequent263
HP:0003073HP:0003073Hypoalbuminemia0COQ2 CL E G H2723525223ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040281 - Very frequent54
HP:0003073HP:0003073Hypoalbuminemia0COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional35
HP:0003073HP:0003073Hypoalbuminemia0COQ8B CL E G H7993419041OMIM:615573Nephrotic syndrome, type 9.35
HP:0003073HP:0003073Hypoalbuminemia0CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional12
HP:0003073HP:0003073Hypoalbuminemia0DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0003073HP:0003073Hypoalbuminemia0DGAT1 CL E G H86942843OMIM:615863Diarrhea 7, protein-losing Enteropathy type.9
HP:0003073HP:0003073Hypoalbuminemia0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0003073HP:0003073Hypoalbuminemia0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0003073HP:0003073Hypoalbuminemia0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040282 - Frequent65
HP:0003073HP:0003073Hypoalbuminemia0EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional4
HP:0003073HP:0003073Hypoalbuminemia0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0003073HP:0003073Hypoalbuminemia0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0003073HP:0003073Hypoalbuminemia0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0003073HP:0003073Hypoalbuminemia0FN1 CL E G H23353778ORPHA:84090Fibronectin glomerulopathyHP:0040281 - Very frequent9
HP:0003073HP:0003073Hypoalbuminemia0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040283 - Occasional32
HP:0003073HP:0003073Hypoalbuminemia0GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0003073HP:0003073Hypoalbuminemia0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional2
HP:0003073HP:0003073Hypoalbuminemia0IFNGR1 CL E G H34595439OMIM:209950Immunodeficiency 27A, mycobacteriosis, AR60
HP:0003073HP:0003073Hypoalbuminemia0IL12A CL E G H35925969ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0003073HP:0003073Hypoalbuminemia0IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional46
HP:0003073HP:0003073Hypoalbuminemia0INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional135
HP:0003073HP:0003073Hypoalbuminemia0IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional4
HP:0003073HP:0003073Hypoalbuminemia0IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B5
HP:0003073HP:0003073Hypoalbuminemia0ITGA3 CL E G H36756139OMIM:614748Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.6
HP:0003073HP:0003073Hypoalbuminemia0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional110
HP:0003073HP:0003073Hypoalbuminemia0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional173
HP:0003073HP:0003073Hypoalbuminemia0MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional59
HP:0003073HP:0003073Hypoalbuminemia0MAGI2 CL E G H986318957OMIM:617609Nephrotic syndrome, type 15.59
HP:0003073HP:0003073Hypoalbuminemia0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0003073HP:0003073Hypoalbuminemia0MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0003073HP:0003073Hypoalbuminemia0MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib.51
HP:0003073HP:0003073Hypoalbuminemia0MPI CL E G H43517216ORPHA:79319MPI-CDGHP:0040281 - Very frequent51
HP:0003073HP:0003073Hypoalbuminemia0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional1
HP:0003073HP:0003073Hypoalbuminemia0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040282 - Frequent81
HP:0003073HP:0003073Hypoalbuminemia0MYO1E CL E G H46437599OMIM:614131Focal segmental glomerulosclerosis 6.3
HP:0003073HP:0003073Hypoalbuminemia0MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0003073HP:0003073Hypoalbuminemia0MYO5B CL E G H46457603OMIM:619868192
HP:0003073HP:0003073Hypoalbuminemia0NLRC4 CL E G H5848416412OMIM:616050AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC30
HP:0003073HP:0003073Hypoalbuminemia0NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional241
HP:0003073HP:0003073Hypoalbuminemia0NPHS1 CL E G H48687908OMIM:256300Nephrotic syndrome, type 1.241
HP:0003073HP:0003073Hypoalbuminemia0NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional69
HP:0003073HP:0003073Hypoalbuminemia0NPHS2 CL E G H782713394OMIM:600995Nephrotic syndrome, type 2.69
HP:0003073HP:0003073Hypoalbuminemia0NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional5
HP:0003073HP:0003073Hypoalbuminemia0NUP107 CL E G H5712229914OMIM:616730Nephrotic syndrome, type 115
HP:0003073HP:0003073Hypoalbuminemia0NUP133 CL E G H5574618016OMIM:618349Galloway-Mowat syndrome 8.1
HP:0003073HP:0003073Hypoalbuminemia0NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0003073HP:0003073Hypoalbuminemia0NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0003073HP:0003073Hypoalbuminemia0NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0003073HP:0003073Hypoalbuminemia0NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0003073HP:0003073Hypoalbuminemia0NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0003073HP:0003073Hypoalbuminemia0NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional5
HP:0003073HP:0003073Hypoalbuminemia0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0003073HP:0003073Hypoalbuminemia0PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional39
HP:0003073HP:0003073Hypoalbuminemia0PDSS2 CL E G H5710723041ORPHA:255249Leigh syndrome with nephrotic syndromeHP:0040281 - Very frequent54
HP:0003073HP:0003073Hypoalbuminemia0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0003073HP:0003073Hypoalbuminemia0PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional11
HP:0003073HP:0003073Hypoalbuminemia0PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional118
HP:0003073HP:0003073Hypoalbuminemia0PLCE1 CL E G H5119617175OMIM:610725Nephrotic syndrome, type 3.118
HP:0003073HP:0003073Hypoalbuminemia0PLVAP CL E G H8348313635OMIM:618183Diarrhea 10, protein-losing Enteropathy type.
HP:0003073HP:0003073Hypoalbuminemia0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0003073HP:0003073Hypoalbuminemia0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0003073HP:0003073Hypoalbuminemia0POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0003073HP:0003073Hypoalbuminemia0PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent58
HP:0003073HP:0003073Hypoalbuminemia0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 2.58
HP:0003073HP:0003073Hypoalbuminemia0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent948
HP:0003073HP:0003073Hypoalbuminemia0PTPRO CL E G H58009678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional2
HP:0003073HP:0003073Hypoalbuminemia0PTPRO CL E G H58009678OMIM:614196Nephrotic syndrome, type 6.2
HP:0003073HP:0003073Hypoalbuminemia0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0003073HP:0003073Hypoalbuminemia0SAR1B CL E G H5112810535OMIM:246700Chylomicron retention disease.8
HP:0003073HP:0003073Hypoalbuminemia0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional
HP:0003073HP:0003073Hypoalbuminemia0SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional162
HP:0003073HP:0003073Hypoalbuminemia0SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 14.8
HP:0003073HP:0003073Hypoalbuminemia0SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0003073HP:0003073Hypoalbuminemia0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1.
HP:0003073HP:0003073Hypoalbuminemia0SLC25A13 CL E G H1016510983ORPHA:247585Citrullinemia type IIHP:0040282 - Frequent82
HP:0003073HP:0003073Hypoalbuminemia0SLC25A13 CL E G H1016510983ORPHA:247598Neonatal intrahepatic cholestasis due to citrin deficiencyHP:0040281 - Very frequent82
HP:0003073HP:0003073Hypoalbuminemia0SLCO2A1 CL E G H657810955OMIM:614441Hypertrophic osteoarthropathy, primary, autosomal recessive 213
HP:0003073HP:0003073Hypoalbuminemia0SMAD4 CL E G H40896770OMIM:174900Juvenile polyposis syndrome.504
HP:0003073HP:0003073Hypoalbuminemia0SPIB CL E G H668911242ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0003073HP:0003073Hypoalbuminemia0STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent85
HP:0003073HP:0003073Hypoalbuminemia0STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent70
HP:0003073HP:0003073Hypoalbuminemia0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0003073HP:0003073Hypoalbuminemia0TBC1D8B CL E G H5488524715ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0003073HP:0003073Hypoalbuminemia0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional241
HP:0003073HP:0003073Hypoalbuminemia0TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 1HP:0040282 - Frequent52
HP:0003073HP:0003073Hypoalbuminemia0TDP1 CL E G H5577518884OMIM:607250Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1.52
HP:0003073HP:0003073Hypoalbuminemia0TFAM CL E G H701911741OMIM:617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type).1
HP:0003073HP:0003073Hypoalbuminemia0TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0003073HP:0003073Hypoalbuminemia0TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0003073HP:0003073Hypoalbuminemia0TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional71
HP:0003073HP:0003073Hypoalbuminemia0TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient101
HP:0003073HP:0003073Hypoalbuminemia0TRPC6 CL E G H722512338ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional107
HP:0003073HP:0003073Hypoalbuminemia0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003073HP:0003073Hypoalbuminemia0UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040281 - Very frequent116
HP:0003073HP:0003073Hypoalbuminemia0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040282 - Frequent1
HP:0003073HP:0003073Hypoalbuminemia0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0003073HP:0003073Hypoalbuminemia0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6HP:0040284 - Very rare
HP:0003073HP:0003073Hypoalbuminemia0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0003073HP:0003073Hypoalbuminemia0WT1 CL E G H749012796ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional177
HP:0003073HP:0003073Hypoalbuminemia0XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181


Genes (107) :ACTN4 AHCY ALB ALG1 ALG12 ALG6 ALG8 ANKFY1 ANLN AP1B1 APOL1 APTX ARHGAP24 ARHGDIA ATP7B B2M BMPR1A CCBE1 CD2AP CD55 COL4A3 COL7A1 COQ2 COQ8B CRB2 DAAM2 DGAT1 DGUOK DHCR7 EIF2AK3 EMP2 ERCC4 FARSA FARSB FN1 FOXP3 GAPVD1 GPR35 IFNGR1 IL12A IL12RB1 INF2 IRF5 IRF8 ITGA3 KRT14 KRT5 MAGI2 MICOS13 MMEL1 MPI MST1 MTTP MYO1E MYO5B NLRC4 NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OSGEP PAX2 PDSS2 PET100 PIK3R5 PLCE1 PLVAP PMM2 POU2AF1 PRF1 PTEN PTPRO RNU7-1 SAR1B SEMA4D SETX SGPL1 SH2D1A SKIC3 SLC25A13 SLCO2A1 SMAD4 SPIB STX11 STXBP2 SYK TBC1D8B TCF4 TDP1 TFAM TKFC TNFSF15 TNPO3 TRMU TRPC6 TTC26 UNC13D VPS33A WDR4 WDR73 WT1 XIAP

Diseases (77) :OMIM:603278 ORPHA:656 ORPHA:88618 OMIM:616000 ORPHA:86816 ORPHA:79327 ORPHA:79324 ORPHA:79320 OMIM:608104 OMIM:242150 OMIM:208920 OMIM:615244 OMIM:277900 OMIM:241600 ORPHA:79076 OMIM:174900 OMIM:235510 OMIM:226300 ORPHA:89842 ORPHA:255249 OMIM:615573 OMIM:615863 OMIM:251880 OMIM:270400 ORPHA:1667 OMIM:610965 OMIM:619013 OMIM:613658 ORPHA:84090 ORPHA:37042 ORPHA:171 OMIM:209950 ORPHA:186 OMIM:226990 OMIM:614748 ORPHA:79396 OMIM:617609 OMIM:618329 OMIM:602579 ORPHA:79319 ORPHA:14 OMIM:614131 OMIM:619868 OMIM:616050 OMIM:256300 OMIM:600995 OMIM:616730 OMIM:618349 OMIM:617729 OMIM:619055 ORPHA:64753 OMIM:610725 OMIM:618183 OMIM:212065 ORPHA:79318 ORPHA:540 OMIM:603553 OMIM:614196 OMIM:619487 OMIM:246700 OMIM:617575 OMIM:308240 OMIM:222470 ORPHA:247585 ORPHA:247598 OMIM:614441 OMIM:619381 ORPHA:94124 OMIM:607250 OMIM:617156 OMIM:618805 OMIM:613070 OMIM:619534 ORPHA:505248 OMIM:617303 OMIM:618347 OMIM:251300
 

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