ORPHA:79365
Rare disorder with hypertrichosis
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare disorder with hypertrichosis | |
| fr | Maladie rare avec hypertrichose | |
| de | Seltene Krankheit mit Hypertrichose | |
| es | Trastorno raro con hipertricosis | |
| it | Ipertricosi | |
| nl | Zeldzame stoornis met hypertrichose | |
| pt | Hipertricose | |
| pl | Hipertrichoza | |
| cs | Hypertrichózy | |
| uk | Рідкісне захворювання з гіпертрихозом | |
| zh | 伴有多毛症的罕见疾病 | |
| tr | Hipertrikoz ile seyreden nadir bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 19280 | E | validated | |
| MeSH | D006983 | E | validated | |
| UMLS | C5681488 | E | validated | |
| MedDRA | 10020864 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183450Genetic hair anomaly
rare genetic diseases - ORPHA:79363Hair anomaly
rare skin diseases
Children (14):
- ORPHA:2221Acquired hypertrichosis lanuginosa
- ORPHA:694946Alazami-Yuan syndrome
- ORPHA:1021Amaurosis-hypertrichosis syndrome
- ORPHA:476119Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
- ORPHA:1231Barber-Say syndrome
- ORPHA:1375Cataract-hypertrichosis-intellectual disability syndrome
- ORPHA:2218Cervical hypertrichosis-peripheral neuropathy syndrome
- ORPHA:508Donohue syndrome
- ORPHA:598603Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
- ORPHA:2026Gingival fibromatosis-hypertrichosis syndrome
- ORPHA:2220Hypertrichosis cubiti
- ORPHA:2222Hypertrichosis lanuginosa congenita
- ORPHA:3387Isolated anterior cervical hypertrichosis
- ORPHA:769Rabson-Mendenhall syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:98595OBSOLETE: Eyebrow/eyelashes hypertrichosis referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79365
- This record as JSON: /data/d/79365.json