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:
Cleft hard palate (HP:0410005)

Parent Node:
Cleft of alveolar ridge of maxilla (HP:0010289)

..Starting node
..Unilateral alveolar cleft of maxilla (HP:0410033)

Term ID:

410033

Name:

Unilateral alveolar cleft of maxilla

Synonym:

Definition:

One sided alveolar cleft of the maxilla.

Comments:

Reference:

HP:0410033

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral alveolar cleft of maxilla (HP:0410034)

Cleft lower alveolar ridge (HP:0009094)

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:0410033	HP:0410033	Unilateral alveolar cleft of maxilla	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101

Genes (1) :NEK1

Diseases (1) :ORPHA:2751

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