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:
Aplasia/Hypoplasia of the eyebrow (HP:0100840)

Parent Node:
Sparse eyebrow (HP:0045075)

..Starting node
..Sparse medial eyebrow (HP:0025325)

Term ID:

25325

Name:

Sparse medial eyebrow

Synonym:

Medial thinning of eyebrow

Definition:

Decreased density/number and/or decreased diameter of medial eyebrow hairs.

Comments:

Reference:

HP:0025325

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Sparse and thin eyebrow (HP:0000535)

Sparse lateral eyebrow (HP:0005338)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025325	HP:0025325	Sparse medial eyebrow	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	34
HP:0025325	HP:0025325	Sparse medial eyebrow	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF	4
HP:0025325	HP:0025325	Sparse medial eyebrow	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0025325	HP:0025325	Sparse medial eyebrow	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	146
HP:0025325	HP:0025325	Sparse medial eyebrow	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	241

Genes (5) :KAT6A NUP188 SIAH1 SMARCA2 TCF4

Diseases (5) :OMIM:616268 OMIM:618804 OMIM:619314 OMIM:601358 OMIM:610954

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