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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Generalized hypertrichosis (HP:0004554)help
Term ID: 4554
Name: Generalized hypertrichosis
Synonym: Generalised hypertrichosis
Definition: Generalized excessive, abnormal hairiness.
Comments:
Reference: HP:0004554
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAnterior cervical hypertrichosis (HP:0004535) help
..expandCongenital, generalized hypertrichosis (HP:0004540) help
..expandElbow hypertrichosis (HP:0004780) help
..expandFacial hypertrichosis (HP:0002219) 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:0004554HP:0004554Generalized hypertrichosis0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent5
HP:0004554HP:0004554Generalized hypertrichosis0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent13
HP:0004554HP:0004554Generalized hypertrichosis0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040282 - Frequent7
HP:0004554HP:0004554Generalized hypertrichosis0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 2HP:0040284 - Very rare43
HP:0004554HP:0004554Generalized hypertrichosis0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040283 - Occasional43
HP:0004554HP:0004554Generalized hypertrichosis0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040282 - Frequent143
HP:0004554HP:0004554Generalized hypertrichosis0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138


Genes (6) :ATP6V1B2 KCNH1 KCNN3 NEU1 SETBP1 SRCAP

Diseases (5) :ORPHA:3473 ORPHA:93400 ORPHA:93399 ORPHA:798 OMIM:136140
 

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