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:
Generalized abnormality of skin (HP:0011354)

Parent Node:
Ectodermal dysplasia (HP:0000968)

..Starting node
..Hypohidrotic ectodermal dysplasia (HP:0007607)

Term ID:

7607

Name:

Hypohidrotic ectodermal dysplasia

Synonym:

Definition:

Comments:

Reference:

HP:0007607

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anhidrotic ectodermal dysplasia (HP:0007476)

Hair-nail ectodermal dysplasia (HP:0007436)

Hidrotic ectodermal dysplasia (HP:0007529)

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:0007607	HP:0007607	Hypohidrotic ectodermal dysplasia	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0007607	HP:0007607	Hypohidrotic ectodermal dysplasia	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0007607	HP:0007607	Hypohidrotic ectodermal dysplasia	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0007607	HP:0007607	Hypohidrotic ectodermal dysplasia	0	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	.	56

Genes (3) :EDA EDAR EDARADD

Diseases (3) :OMIM:305100 OMIM:224900 OMIM:614940

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