Ptosis, hereditary congenital 2

Preferred Label : Ptosis, hereditary congenital 2;

CISMeF acronym : PTOSX; PTOS2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Ptosis, X-linked; PTOS2; PTOSX;

Description : See PTOS1 (178300) for a form of ptosis that has been linked to chromosome 1p.;

Inheritance : X-linked dominant;

Prefixed ID : %300245;

Details

Origin ID

300245;

UMLS CUI

C1846128;

Broader ORDO disease(s)
- Congenital ptosis [ORDO Disease]
Currated CISMeF NLP mapping
- ptosis, hereditary congenital 2 [MeSH concept]
- ptosis, hereditary congenital 2 [MeSH Supplementary Concept]
DO Cross reference
- congenital ptosis [DO Concept]
HPO term(s)
- Compensatory chin elevation [HPO term]
- Ptosis [HPO term]
- X-linked dominant inheritance [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 2 [MeSH Supplementary Concept]
- ptosis, hereditary congenital 2 [MeSH concept]
Validated automatic mappings to NTBT
- Congenital ptosis [ORDO Disease]

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