Human Phenotype Ontology 
Grandparent Node:
expandAbnormal hair quantity (HP:0011362)help
Parent Node:
expandHypertrichosis (HP:0000998)help
..Starting node
..expandAnterior cervical hypertrichosis (HP:0004535)help
Term ID: 4535
Name: Anterior cervical hypertrichosis
Synonym: Congenital cervical hypertrichosis; Hypertrichosis, congenital anterior cervical
Definition: Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence.
Comments:
Reference: HP:0004535
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCongenital, generalized hypertrichosis (HP:0004540) help
..expandElbow hypertrichosis (HP:0004780) help
..expandFacial hypertrichosis (HP:0002219) help
..expandGeneralized hypertrichosis (HP:0004554) help
..expandLumbar hypertrichosis (HP:0011913) help
..expandSacral hypertrichosis (HP:0004532) help
..expandThoracic hypertrichosis (HP:0011914) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004535HP:0004535Anterior cervical hypertrichosis0 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.