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:
Abnormal upper lip morphology (HP:0000177)

Parent Node:
Abnormality of the philtrum (HP:0000288)

..Starting node
..Hypoplastic philtrum (HP:0005326)

Term ID:

5326

Name:

Hypoplastic philtrum

Synonym:

Small philtrum

Definition:

Underdevelopment of the philtrum.

Comments:

Reference:

HP:0005326

Genes and Diseases:

Child Nodes:

Sister Nodes:

Broad philtrum (HP:0000289)

Deep philtrum (HP:0002002)

Long philtrum (HP:0000343)

Malaligned philtral ridges (HP:0011827)

Midline sinus of philtrum (HP:0011828)

Narrow philtrum (HP:0011829)

Philtrum with midline raphe (HP:0011826)

Short philtrum (HP:0000322)

Smooth philtrum (HP:0000319)

Tented philtrum (HP:0011825)

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:0005326	HP:0005326	Hypoplastic philtrum	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0005326	HP:0005326	Hypoplastic philtrum	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.	102
HP:0005326	HP:0005326	Hypoplastic philtrum	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0005326	HP:0005326	Hypoplastic philtrum	0	PDCD6IP CL E G H	10015	8766	OMIM:620047

Genes (4) :ATRX EXT2 MAP1B PDCD6IP

Diseases (4) :OMIM:309580 OMIM:616682 OMIM:618918 OMIM:620047

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