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	hypertrichosis

Disease ID	336
Disease	hypertrichosis
Definition	Excessive hair growth at inappropriate locations, such as on the extremities, the head, and the back. It is caused by genetic or acquired factors, and is an androgen-independent process. This concept does not include HIRSUTISM which is an androgen-dependent excess hair growth in WOMEN and CHILDREN.
Synonym	excessive hair growth (disorder) excessive hair growth (finding) hirsutism - hypertrichosis hypertrichiasis hypertrichiasis, nos hypertrichoses hypertrichosis (disorder) hypertrichosis (hirsutism) hypertrichosis [disease/finding] hypertrichosis nos hypertrichosis nos (disorder) hypertrichosis, nos polytrichia, nos polytrichosis polytrichosis, nos
Orphanet	ORPHANET:79365
DOID	DOID:420
UMLS	C0020555
MeSH	D006983
SNOMED-CT	SNOMEDCT_US_2016_09_01:29966009;SNOMEDCT_US_2016_09_01:271607001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:16) C0011847 \| diabetes \| 5 C0011849 \| diabetes mellitus \| 3 C0011854 \| insulin dependent diabetes \| 3 C0020676 \| hypothyroidism \| 2 C0011854 \| insulin-dependent diabetes mellitus \| 2 C0011854 \| insulin-dependent diabetes \| 2 C0334082 \| epidermal nevus \| 1 C0010273 \| craniofacial dysostosis \| 1 C1153706 \| endometrial adenocarcinoma \| 1 C0002170 \| alopecia \| 1 C0040188 \| tic disorders \| 1 C0032460 \| polycystic ovary \| 1 C0029401 \| paget's disease \| 1 C0011854 \| insulin dependent diabetes mellitus \| 1 C0263505 \| alopecia universalis \| 1 C0010308 \| congenital hypothyroidism \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 55315 \| SLC29A3 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:58) 23461 \| ABCA5 \| 2.811 \| DISEASES 10257 \| ABCC4 \| 1.154 \| DISEASES 6833 \| ABCC8 \| 2.41 \| DISEASES 10555 \| AGPAT2 \| 2.464 \| DISEASES 8289 \| ARID1A \| 2.46 \| DISEASES 57492 \| ARID1B \| 4.283 \| DISEASES 171023 \| ASXL1 \| 1.117 \| DISEASES 8706 \| B3GALNT1 \| 2.382 \| DISEASES 54880 \| BCOR \| 1.54 \| DISEASES 617 \| BCS1L \| 1.106 \| DISEASES 26580 \| BSCL2 \| 2.214 \| DISEASES 55799 \| CACNA2D3 \| 2.763 \| DISEASES 55636 \| CHD7 \| 1.107 \| DISEASES 387836 \| CLEC2A \| 2.991 \| DISEASES 91522 \| COL23A1 \| 3.674 \| DISEASES 57703 \| CWC22 \| 1.518 \| DISEASES 1589 \| CYP21A2 \| 1.758 \| DISEASES 1798 \| DPAGT1 \| 1.287 \| DISEASES 51013 \| EXOSC1 \| 2.211 \| DISEASES 2131 \| EXT1 \| 2.045 \| DISEASES 54757 \| FAM20A \| 2.516 \| DISEASES 2200 \| FBN1 \| 3.259 \| DISEASES 8811 \| GALR2 \| 1.971 \| DISEASES 3481 \| IGF2 \| 1.99 \| DISEASES 100423062 \| IGLL5 \| 1.559 \| DISEASES 3767 \| KCNJ11 \| 2.356 \| DISEASES 7403 \| KDM6A \| 1.583 \| DISEASES 54900 \| LAX1 \| 2.177 \| DISEASES 3980 \| LIG3 \| 1.08 \| DISEASES 100885779 \| LINC-ROR \| 1.269 \| DISEASES 5608 \| MAP2K6 \| 1.984 \| DISEASES 55777 \| MBD5 \| 2.694 \| DISEASES 51360 \| MBTPS2 \| 1.892 \| DISEASES 2315 \| MLANA \| 1.36 \| DISEASES 345778 \| MTX3 \| 2.581 \| DISEASES 4773 \| NFATC2 \| 1.441 \| DISEASES 50814 \| NSDHL \| 2.815 \| DISEASES 8481 \| OFD1 \| 1.99 \| DISEASES 9124 \| PDLIM1 \| 3.422 \| DISEASES 84295 \| PHF6 \| 2.804 \| DISEASES 5449 \| POU1F1 \| 1.658 \| DISEASES 5618 \| PRLR \| 1.032 \| DISEASES 22827 \| PUF60 \| 2.483 \| DISEASES 22930 \| RAB3GAP1 \| 2.181 \| DISEASES 135250 \| RAET1E \| 1.882 \| DISEASES 6462 \| SHBG \| 1.761 \| DISEASES 55315 \| SLC29A3 \| 5.519 \| DISEASES 6597 \| SMARCA4 \| 2.371 \| DISEASES 6605 \| SMARCE1 \| 3.791 \| DISEASES 6654 \| SOS1 \| 1.165 \| DISEASES 6658 \| SOX3 \| 1.891 \| DISEASES 6834 \| SURF1 \| 4.542 \| DISEASES 6888 \| TALDO1 \| 2.701 \| DISEASES 6949 \| TCOF1 \| 1.629 \| DISEASES 26136 \| TES \| 1.28 \| DISEASES 7227 \| TRPS1 \| 4.172 \| DISEASES 117581 \| TWIST2 \| 1.737 \| DISEASES 7390 \| UROS \| 4.979 \| DISEASES
Locus	(Waiting for update.)

Disease ID	336
Disease	hypertrichosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:27) HP:0000819 \| Diabetes mellitus \| 4 HP:0000212 \| Gingival overgrowth \| 4 HP:0000821 \| Underactive thyroid \| 3 HP:0000169 \| Gingival fibrous nodules \| 2 HP:0000851 \| Congenital hypothyroidism \| 2 HP:0010301 \| Spinal dysraphism \| 1 HP:0000147 \| Sclerocystic ovaries \| 1 HP:0002208 \| Coarse hair texture \| 1 HP:0000989 \| pruritis \| 1 HP:0001596 \| Hair loss \| 1 HP:0000845 \| Acromegalic growth \| 1 HP:0100033 \| Tic disorder \| 1 HP:0000870 \| Hyperprolactinemia \| 1 HP:0001065 \| Purplish striae \| 1 HP:0012500 \| Papillomatous papule \| 1 HP:0000832 \| Primary hypothyroidism \| 1 HP:0000771 \| Gynaecomastia \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0012531 \| Pain \| 1 HP:0002290 \| Poliosis \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0010816 \| Epidermal nevus \| 1 HP:0004439 \| Crouzon syndrome \| 1 HP:0003764 \| Naevus \| 1 HP:0002289 \| Alopecia, complete \| 1 HP:0001249 \| Mental retardation \| 1 HP:0200034 \| Papule \| 1

Disease ID	336
Disease	hypertrichosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0426768 \| o sign C0263409 \| linear scleroderma C0016048 \| fibromatosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0016048 \| fibromatosis \| 3

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs63749090	15126570	9790	BMS1	umls:C0020555	BeFree	By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.	0.000271442	2004	NA	NA	NA	NA	NA
rs63749090	15126570	31	ACACA	umls:C0020555	BeFree	By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.	0.000271442	2004	NA	NA	NA	NA	NA
rs63749090	15126570	1589	CYP21A2	umls:C0020555	BeFree	By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.	0.000271442	2004	NA	NA	NA	NA	NA
rs63749090	15126570	94081	SFXN1	umls:C0020555	BeFree	By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.	0.000271442	2004	NA	NA	NA	NA	NA
rs9378251	15126570	9790	BMS1	umls:C0020555	BeFree	By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.	0.000271442	2004	CYP21A2	6	32038514	C	T
rs9378251	15126570	94081	SFXN1	umls:C0020555	BeFree	By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.	0.000271442	2004	CYP21A2	6	32038514	C	T
rs9378251	15126570	1589	CYP21A2	umls:C0020555	BeFree	By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.	0.000271442	2004	CYP21A2	6	32038514	C	T
rs9378251	15126570	31	ACACA	umls:C0020555	BeFree	By CYP21 gene analysis, we identified a chimeric CYP21P/CYP21 gene with the fusion breakpoint downstream of the common P30L mutation as well as a GCC to ACC change at codon 15 (A15T) in two subjects with classical CAH and a CCC to TCC change at codon 482 (P482S) in seven subjects referred for nonclassical CAH, precocious pubarche, menstrual irregularities, or hypertrichosis.	0.000271442	2004	CYP21A2	6	32038514	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	336
Disease	hypertrichosis
Case	(Waiting for update.)

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