Hypertrichosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 79365
OMIM Id:
ICD-10:
UMLs: C0020555
MeSH: D006983
MedDRA: 10020864
Snomed: 29966009

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hair anomaly
 -Rare genetic disease
Hair anomaly
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000168) Abnormality of the gingiva Occasional [Orphanet] 51 / 7739
2
 (HPO:0000153) Abnormality of the mouth Frequent [Orphanet] 60 / 7739
3
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
4
 (HPO:0000366) Abnormality of the nose Frequent [Orphanet] 56 / 7739
5
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
6
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
7
 (HPO:0002558) Supernumerary nipple Frequent [Orphanet] 40 / 7739
8
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
9
 (HPO:0001010) Hypopigmentation of the skin Frequent [Orphanet] 46 / 7739
10
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
11
 (HPO:0012905) Euryblepharon Frequent [Orphanet] 12 / 7739
12
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: