Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Human Phenotype Ontology

Grandparent Node:
Abnormality of metabolism/homeostasis (HP:0001939)

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Parent Node:
Abnormal circulating protein concentration (HP:0010876)

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..Starting node
..Hypoproteinemia (HP:0003075)

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Term ID:

3075

Name:

Hypoproteinemia

Synonym:

Decreased protein levels in blood

Definition:

A decreased concentration of protein in the blood.

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Neonatal hypoproteinemia (HP:0008360)

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Sister Nodes:

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Abnormal B-type natriuretic peptide level (HP:0031138)

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Abnormal circulating albumin concentration (HP:0012116)

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Abnormal circulating apolipoprotein concentration (HP:0025201)

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Abnormal circulating beta globulin level (HP:0025465)

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Abnormal circulating beta-C-terminal telopeptide concentration (HP:0031424)

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Abnormal circulating thyroglobulin level (HP:0025483)

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Abnormal hepcidin level (HP:0031875)

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Abnormal insulin like growth factor binding protein acid labile subunit level (HP:0031034)

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Abnormal levels of alpha-fetoprotein (HP:0045056)

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Abnormal retinol-binding protein level (HP:0031031)

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Abnormality of circulating enzyme level (HP:0011021)

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Abnormality of the kinin-kallikrein system (HP:0005559)

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Decreased prealbumin level (HP:0031085)

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Elevated carcinoembryonic antigen level (HP:0031029)

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Elevated carcinoma antigen 125 level (HP:0031030)

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Elevated circulating C-reactive protein concentration (HP:0011227)

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Elevated prostate-specific antigen level (HP:0025020)

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Hyperpepsinogenemia I (HP:0003238)

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Hyperproteinemia (HP:0002152)

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Increased circulating thyroxine-binding globulin level (HP:0031222)

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Reduced growth-hormone binding protein level (HP:0031036)

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Reduced insulin-like factor 3 level (HP:0031037)

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Reduced sex -hormone binding protein level (HP:0031419)

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Reduced thyroxin-binding globulin (HP:0012509)

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003075	HP:0003075	Hypoproteinemia	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare			200
HP:0003075	HP:0003075	Hypoproteinemia	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040282 - Frequent			104
HP:0003075	HP:0003075	Hypoproteinemia	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43	.			8
HP:0003075	HP:0003075	Hypoproteinemia	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.			9
HP:0003075	HP:0003075	Hypoproteinemia	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.			94
HP:0003075	HP:0003075	Hypoproteinemia	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	HP:0040283 - Occasional			38
HP:0003075	HP:0003075	Hypoproteinemia	0	FOCAD CL E G H	54914	23377	OMIM:619991					3
HP:0003075	HP:0003075	Hypoproteinemia	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.			92
HP:0003075	HP:0003075	Hypoproteinemia	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional			239
HP:0003075	HP:0003075	Hypoproteinemia	0	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22				4
HP:0003075	HP:0003075	Hypoproteinemia	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.			241
HP:0003075	HP:0003075	Hypoproteinemia	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	.			58
HP:0003075	HP:0003075	Hypoproteinemia	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.			127
HP:0003075	HP:0003075	Hypoproteinemia	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.			50
HP:0003075	HP:0003075	Hypoproteinemia	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency				10
HP:0003075	HP:0003075	Hypoproteinemia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent			82
HP:0003075	HP:0003075	Hypoproteinemia	0	TMPRSS15 CL E G H	5651	9490	OMIM:226200	Enterokinase deficiency	.			5
HP:0003075	HP:0003075	Hypoproteinemia	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040282 - Frequent			25
HP:0003075	HP:0008360	Neonatal hypoproteinemia	1	CL E G H

Genes (18) :ACADVL ALB B2M CD55 DCLRE1C DPAGT1 FOCAD LAMB2 LYST NOS1AP NPHS1 PRF1 RAG1 RAG2 RBCK1 SLC25A13 TMPRSS15 UBR1

Diseases (16) :ORPHA:26793 ORPHA:86816 OMIM:241600 OMIM:226300 OMIM:603554 OMIM:608093 OMIM:619991 OMIM:609049 ORPHA:167 OMIM:619155 OMIM:256300 OMIM:603553 OMIM:615895 ORPHA:247585 OMIM:226200 ORPHA:2315

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

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