Nasopalpebral lipoma-coloboma syndrome

Preferred Label : Nasopalpebral lipoma-coloboma syndrome;

Symbol : NPLCS;

CISMeF acronym : NPLCS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Palpebral coloboma-lipoma syndrome;

Description : Nasopalpebral lipoma-coloboma syndrome is an autosomal dominant condition characterized by upper eyelid and nasopalpebral lipomas, colobomas of upper and lower eyelids, telecanthus, and maxillary hypoplasia (summary by Suresh et al., 2011).;

Inheritance : Autosomal dominant;

Prefixed ID : %167730;

Détails

Origin ID

167730;

UMLS CUI

C1868660;

Currated CISMeF NLP mapping
- Nasopalpebral lipoma coloboma syndrome [MeSH concept]
- Nasopalpebral lipoma coloboma syndrome (disorder) [SNOMED CT concept]
- Nasopalpebral lipoma-coloboma syndrome [ORDO Disease]
- nasopalpebral lipoma coloboma syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Absent lacrimal punctum [HPO term]
- Aplasia or malposition of lacrimal puncta [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coloboma of upper and lower eyelids [HPO term]
- Conjunctival hyperemia [HPO term]
- Cupped ear [HPO term]
- Depressed nasal bridge [HPO term]
- Dolichocephaly [HPO term]
- Ectopic lacrimal punctum [HPO term]
- Epiphora [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Lipomas of eyelids [HPO term]
- Low-set ears [HPO term]
- Lower eyelid coloboma [HPO term]
- Microphthalmia [HPO term]
- Multiple lipomas [HPO term]
- Telecanthus [HPO term]
- Upper eyelid coloboma [HPO term]
- Wide nasal bridge [HPO term]
- Widow's peak [HPO term]
ORDO concept(s)
- Nasopalpebral lipoma-coloboma syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nasopalpebral lipoma coloboma syndrome [MeSH concept]
- Nasopalpebral lipoma coloboma syndrome (disorder) [SNOMED CT concept]
- Nasopalpebral lipoma-coloboma syndrome [ORDO Disease]
- nasopalpebral lipoma coloboma syndrome [MeSH Supplementary Concept]

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