Human Phenotype Ontology 
Grandparent Node:
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Abnormal hair quantity (HP:0011362)help
Parent Node:
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Hypertrichosis (HP:0000998)help
..Starting node
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Congenital, generalized hypertrichosis (HP:0004540)help
Term ID: 4540
Name: Congenital, generalized hypertrichosis
Synonym: Congenital generalised hypertrichosis; Congenital generalized hypertrichosis; Congenital, generalised hypertrichosis; Hypertrichosis universalis
Definition: A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.
Comments:
Reference: HP:0004540
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAnterior cervical hypertrichosis (HP:0004535) 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:0004540HP:0004540Congenital, generalized hypertrichosis0ABCA5 CL E G H2346135OMIM:135400Hypertrichosis terminalis, generalized, with or without gingival hyperplasia.1
HP:0004540HP:0004540Congenital, generalized hypertrichosis0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0004540HP:0004540Congenital, generalized hypertrichosis0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91


Genes (3) :ABCA5 ABCC9 KMT2A

Diseases (3) :OMIM:135400 OMIM:239850 ORPHA:319182
 

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