Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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:
Hirsutism (HP:0001007)

..Starting node
..Localized hirsutism (HP:0009889)

Term ID:

9889

Name:

Localized hirsutism

Synonym:

Localised abnormal hair growth; Localised hirsutism; Localized abnormal hair growth

Definition:

Abnormally increased hair growth with a localized distribution.

Comments:

Reference:

HP:0009889

Genes and Diseases:

Child Nodes:

........

Lumbosacral hirsutism (HP:0009747)

........

Facial hirsutism (HP:0009937)

................... HP:0011335 Frontal hirsutism

Sister Nodes:

Generalized hirsutism (HP:0002230)

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:0009889	HP:0009889	Localized hirsutism	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0009889	HP:0009889	Localized hirsutism	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0009889	HP:0009889	Localized hirsutism	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome		7
HP:0009889	HP:0009889	Localized hirsutism	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria		72
HP:0009889	HP:0009889	Localized hirsutism	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0009889	HP:0009889	Localized hirsutism	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009889	HP:0009889	Localized hirsutism	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0009889	HP:0009889	Localized hirsutism	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0009889	HP:0009889	Localized hirsutism	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0009889	HP:0009889	Localized hirsutism	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009889	HP:0009889	Localized hirsutism	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0009889	HP:0009889	Localized hirsutism	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0009889	HP:0009889	Localized hirsutism	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0009889	HP:0009889	Localized hirsutism	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009889	HP:0009889	Localized hirsutism	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0009889	HP:0009889	Localized hirsutism	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0009889	HP:0009889	Localized hirsutism	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0009889	HP:0009889	Localized hirsutism	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0009889	HP:0009889	Localized hirsutism	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0009889	HP:0009889	Localized hirsutism	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism		4
HP:0009889	HP:0009937	Facial hirsutism	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0009889	HP:0009747	Lumbosacral hirsutism	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0009889	HP:0009937	Facial hirsutism	1	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome		7
HP:0009889	HP:0009937	Facial hirsutism	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional	72
HP:0009889	HP:0009937	Facial hirsutism	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0009889	HP:0009937	Facial hirsutism	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009889	HP:0009937	Facial hirsutism	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0009889	HP:0009937	Facial hirsutism	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0009889	HP:0009937	Facial hirsutism	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0009889	HP:0009937	Facial hirsutism	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0009889	HP:0009937	Facial hirsutism	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency		66
HP:0009889	HP:0009937	Facial hirsutism	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0009889	HP:0034042	Dorsal hirsutism	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0009889	HP:0009937	Facial hirsutism	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0009889	HP:0009937	Facial hirsutism	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0009889	HP:0009937	Facial hirsutism	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0009889	HP:0009937	Facial hirsutism	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0009889	HP:0009937	Facial hirsutism	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0009889	HP:0034042	Dorsal hirsutism	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0009889	HP:0009937	Facial hirsutism	1	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4
HP:0009889	HP:0011335	Frontal hirsutism	2	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.	7
HP:0009889	HP:0011335	Frontal hirsutism	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0009889	HP:0011335	Frontal hirsutism	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0009889	HP:0011335	Frontal hirsutism	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0009889	HP:0011335	Frontal hirsutism	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0009889	HP:0011335	Frontal hirsutism	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent	1
HP:0009889	HP:0011335	Frontal hirsutism	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0009889	HP:0011335	Frontal hirsutism	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0009889	HP:0011335	Frontal hirsutism	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS

Genes (20) :AFF4 ARID1B CKAP2L CPOX CREBBP DLK1 EP300 FLNA GNS MEG3 PEPD PPP1R21 RPL10 RTL1 SLC25A12 TASP1 TBX15 TP63 WASHC4 WNT4

Diseases (17) :ORPHA:444077 OMIM:135900 OMIM:272440 ORPHA:79273 OMIM:180849 ORPHA:96334 OMIM:309350 OMIM:252940 OMIM:170100 OMIM:619383 OMIM:300998 OMIM:612949 OMIM:618950 OMIM:260660 OMIM:604292 OMIM:615817 ORPHA:247768

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen