Human Phenotype Ontology 
Grandparent Node:
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Hirsutism (HP:0001007)help
Parent Node:
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Localized hirsutism (HP:0009889)help
..Starting node
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Facial hirsutism (HP:0009937)help
Term ID: 9937
Name: Facial hirsutism
Synonym: Excessive face hair
Definition: Excess facial hair.
Comments:
Reference: HP:0009937
Genes and Diseases:
 
       Child Nodes:
........expandFrontal hirsutism (HP:0011335) help

 Sister Nodes: 
..expandLumbosacral hirsutism (HP:0009747) 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:0009937HP:0009937Facial hirsutism0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0009937HP:0009937Facial hirsutism0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome7
HP:0009937HP:0009937Facial hirsutism0CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyriaHP:0040283 - Occasional72
HP:0009937HP:0009937Facial hirsutism0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0009937HP:0009937Facial hirsutism0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0009937HP:0009937Facial hirsutism0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0009937HP:0009937Facial hirsutism0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome493
HP:0009937HP:0009937Facial hirsutism0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0009937HP:0009937Facial hirsutism0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0009937HP:0009937Facial hirsutism0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0009937HP:0009937Facial hirsutism0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0009937HP:0009937Facial hirsutism0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009937HP:0009937Facial hirsutism0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0009937HP:0009937Facial hirsutism0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0009937HP:0009937Facial hirsutism0TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0009937HP:0009937Facial hirsutism0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0009937HP:0009937Facial hirsutism0WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenismHP:0040281 - Very frequent4
HP:0009937HP:0011335Frontal hirsutism1CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome.7
HP:0009937HP:0011335Frontal hirsutism1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0009937HP:0011335Frontal hirsutism1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0009937HP:0011335Frontal hirsutism1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0009937HP:0011335Frontal hirsutism1FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0009937HP:0011335Frontal hirsutism1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0009937HP:0011335Frontal hirsutism1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0009937HP:0011335Frontal hirsutism1SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0009937HP:0011335Frontal hirsutism1TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS


Genes (17) :AFF4 CKAP2L CPOX CREBBP DLK1 EP300 FLNA GNS MEG3 PEPD PPP1R21 RTL1 SLC25A12 TASP1 TBX15 TP63 WNT4

Diseases (14) :ORPHA:444077 OMIM:272440 ORPHA:79273 OMIM:180849 ORPHA:96334 OMIM:309350 OMIM:252940 OMIM:170100 OMIM:619383 OMIM:612949 OMIM:618950 OMIM:260660 OMIM:604292 ORPHA:247768
 

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