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

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

Parent Node:
Abnormal circulating porphyrin concentration (HP:0010472)

..Starting node
..Elevated urinary delta-aminolevulinic acid (HP:0003163)

Term ID:

3163

Name:

Elevated urinary delta-aminolevulinic acid

Synonym:

Elevated urinary delta-aminolevulinic acid

Definition:

An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.

Comments:

Reference:

HP:0003163

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased erythrocyte protoporphyrin concentration (HP:0012187)

Increased urinary porphobilinogen (HP:0012217)

Porphyrinuria (HP:0010473)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003163	HP:0003163	Elevated urinary delta-aminolevulinic acid	0	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic	.	62
HP:0003163	HP:0003163	Elevated urinary delta-aminolevulinic acid	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0003163	HP:0003163	Elevated urinary delta-aminolevulinic acid	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040281 - Very frequent	72
HP:0003163	HP:0003163	Elevated urinary delta-aminolevulinic acid	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0003163	HP:0003163	Elevated urinary delta-aminolevulinic acid	0	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata		38
HP:0003163	HP:0003163	Elevated urinary delta-aminolevulinic acid	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040281 - Very frequent	81
HP:0003163	HP:0003163	Elevated urinary delta-aminolevulinic acid	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0003163	HP:0003163	Elevated urinary delta-aminolevulinic acid	0	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata		41
HP:0003163	HP:0003163	Elevated urinary delta-aminolevulinic acid	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040282 - Frequent	41

Genes (6) :ALAD CPOX FAH HFE HMBS PPOX

Diseases (8) :OMIM:612740 OMIM:121300 ORPHA:79273 OMIM:276700 OMIM:176200 ORPHA:79276 OMIM:176000 ORPHA:79473

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