Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 brain morphology (HP:0012443)

Parent Node:
Holoprosencephaly (HP:0001360)

..Starting node
..Ethmocephaly (HP:0030779)

Term ID:

30779

Name:

Ethmocephaly

Synonym:

Definition:

Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears.

Comments:

Reference:

HP:0030779

Genes and Diseases:

Child Nodes:

Sister Nodes:

Alobar holoprosencephaly (HP:0006988)

Lobar holoprosencephaly (HP:0006870)

Semilobar holoprosencephaly (HP:0002507)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030779	HP:0030779	Ethmocephaly	0	CL E G H

Genes (0) :

Diseases (0) :

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

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