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 hair quantity (HP:0011362)

Parent Node:
Hypertrichosis (HP:0000998)

..Starting node
..Lumbar hypertrichosis (HP:0011913)

Term ID:

11913

Name:

Lumbar hypertrichosis

Synonym:

Definition:

Excessive, increased hair growth located in the lumbar region.

Comments:

Reference:

HP:0011913

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior cervical hypertrichosis (HP:0004535)

Congenital, generalized hypertrichosis (HP:0004540)

Elbow hypertrichosis (HP:0004780)

Facial hypertrichosis (HP:0002219)

Generalized hypertrichosis (HP:0004554)

Sacral hypertrichosis (HP:0004532)

Thoracic hypertrichosis (HP:0011914)

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:0011913	HP:0011913	Lumbar hypertrichosis	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0011913	HP:0011913	Lumbar hypertrichosis	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7

Genes (2) :SMPD4 UBE2A

Diseases (2) :OMIM:618622 ORPHA:163956

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