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:
Low APGAR score (HP:0030917)

Parent Node:
Low 1-minute APGAR score (HP:0030918)

..Starting node
..1-minute APGAR score of 1 (HP:0030928)

Term ID:

30928

Name:

1-minute APGAR score of 1

Synonym:

Definition:

Comments:

Reference:

HP:0030928

Genes and Diseases:

Child Nodes:

Sister Nodes:

1-minute APGAR score of 0 (HP:0030927)

1-minute APGAR score of 2 (HP:0030929)

1-minute APGAR score of 3 (HP:0030930)

1-minute APGAR score of 4 (HP:0030931)

1-minute APGAR score of 5 (HP:0030932)

1-minute APGAR score of 6 (HP:0030933)

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:0030928	HP:0030928	1-minute APGAR score of 1	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0030928	HP:0030928	1-minute APGAR score of 1	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27

Genes (2) :FGFR3 USP9X

Diseases (2) :OMIM:187600 ORPHA:480880

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