Acromegaloid changes, cutis verticis gyrata, and corneal leukoma

Preferred Label : Acromegaloid changes, cutis verticis gyrata, and corneal leukoma;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Rosenthal-kloepfer syndrome;

Inheritance : Autosomal dominant;

Prefixed ID : %102100;

Details

Origin ID

102100;

UMLS CUI

C1321495;

Currated CISMeF NLP mapping
- Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) [SNOMED CT concept]
- Acromegaly-cutis verticis gyrata-corneal leukoma syndrome [ORDO Disease]
- Rosenthal-Kloepfer syndrome [MeSH concept]
- Rosenthal-Kloepfer syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the eye [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cutis gyrata of scalp [HPO term]
- Large hands [HPO term]
- Large hands and feet [HPO term]
- Long foot [HPO term]
- Mandibular prognathia [HPO term]
- Periostosis [HPO term]
- Soft skin [HPO term]
- Tall stature [HPO term]
ORDO concept(s)
- Acromegaly-cutis verticis gyrata-corneal leukoma syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) [SNOMED CT concept]
- Acromegaly-cutis verticis gyrata-corneal leukoma syndrome [ORDO Disease]
- Rosenthal-Kloepfer syndrome [MeSH Supplementary Concept]
- Rosenthal-Kloepfer syndrome [MeSH concept]

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