Ptosis, hereditary congenital 1

Preferred Label : Ptosis, hereditary congenital 1;

Symbol : PTOS1;

CISMeF acronym : PTOS1;

Type : Phenotype or locus, molecular basis unknown;

Description : Hereditary congenital ptosis occurs in 3 main forms: simple; with external ophthalmoplegia; and with blepharophimosis. See PTOS2 (300245) for description of an X-linked form of congenital bilateral isolated ptosis.;

Inheritance : Autosomal dominant;

Prefixed ID : %178300;

Details

Origin ID

178300;

UMLS CUI

C1867438;

Broader ORDO disease(s)
- Congenital ptosis [ORDO Disease]
Currated CISMeF NLP mapping
- ptosis, hereditary congenital 1 [MeSH concept]
- ptosis, hereditary congenital 1 [MeSH Supplementary Concept]
DO Cross reference
- congenital ptosis [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital ptosis [HPO term]
ORDO concept(s)
- Congenital ptosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ptosis, hereditary congenital 1 [MeSH Supplementary Concept]
- ptosis, hereditary congenital 1 [MeSH concept]
Validated automatic mappings to NTBT
- Congenital ptosis [ORDO Disease]

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