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 skin adnexa morphology (HP:0011138)

Parent Node:
Abnormal hair morphology (HP:0001595)

..Starting node
..Trichodysplasia (HP:0002552)

Term ID:

2552

Name:

Trichodysplasia

Synonym:

Generalised trichodysplasia; Generalized trichodysplasia

Definition:

Developmental dysplasia of the hair.

Comments:

Reference:

HP:0002552

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal eyebrow morphology (HP:0000534)

Abnormal eyelash morphology (HP:0000499)

Abnormal hair pattern (HP:0010720)

Abnormal hair quantity (HP:0011362)

Abnormal hairshaft morphology (HP:0003328)

Abnormality of hair growth (HP:0040170)

Abnormality of hair pigmentation (HP:0009887)

Abnormality of hair texture (HP:0010719)

Abnormality of secondary sexual hair (HP:0009888)

Abnormality of the scalp hair (HP:0100037)

obsolete Abnormality of hair density (HP:0011357)

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:0002552	HP:0002552	Trichodysplasia	0	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent	3
HP:0002552	HP:0002552	Trichodysplasia	0	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome	HP:0040281 - Very frequent	1

Genes (2) :PADI3 TGM3

Diseases (1) :ORPHA:1410

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