Yemenite deaf-blind hypopigmentation syndrome

Preferred Label : Yemenite deaf-blind hypopigmentation syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 601706;

Details

Origin ID

601706;

UMLS CUI

C1866425;

Currated CISMeF NLP mapping
- Deaf blind hypopigmentation syndrome, Yemenite type [ORDO Disease]
- Yemenite deaf-blind hypopigmentation syndrome [MeSH concept]
- yemenite deaf-blind hypopigmentation syndrome [Disease (Nov.)]
- yemenite deaf-blind hypopigmentation syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Chorioretinal coloboma [HPO term]
- Iris coloboma [HPO term]
- Microcornea [HPO term]
- Numerous pigmented freckles [HPO term]
- Nystagmus [HPO term]
- Patchy hypo- and hyperpigmentation [HPO term]
- Severe early sensorineural hearing loss [HPO term]
- Severe sensorineural hearing impairment [HPO term]
- White forelock [HPO term]
ORDO concept(s)
- Deaf blind hypopigmentation syndrome, Yemenite type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deaf blind hypopigmentation syndrome Yemenite type (disorder) [SNOMED CT concept]
- Deaf blind hypopigmentation syndrome, Yemenite type [ORDO Disease]
- Yemenite deaf-blind hypopigmentation syndrome [MeSH concept]
- yemenite deaf-blind hypopigmentation syndrome [MeSH Supplementary Concept]
- yemenite deaf-blind hypopigmentation syndrome [Disease (Nov.)]

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