Piebald trait - CISMeF

Preferred Label : Piebald trait;

Symbol : PBT;

CISMeF acronym : PBT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PIEBALDISM;

Description : Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004).;

Inheritance : Autosomal dominant (4q11-q12);

Prefixed ID : #172800;

Details

Origin ID

172800;

UMLS CUI

C0080024;

Automatic exact mappings (from CISMeF team)
- Mast/Stem Cell Growth Factor Receptor Kit [NCIt concept]
- Oncogene KIT [NCIt concept]
- symbol withdrawn PBT [HGNC gene]
Currated CISMeF NLP mapping
- Partial albinism [HPO term]
- Partial albinism (disorder) [SNOMED CT concept]
- Piebaldism [HPO term]
- Piebaldism [ICD-11 More detail]
- Piebaldism [MedDRA Preferred Term]
- Piebaldism [NCIt concept]
- Piebaldism [ORDO Disease]
- Piebaldism (disorder) [SNOMED CT concept]
- partial albinism [SNOMED Notion]
- piebaldism [Disease (Nov.)]
- piebaldism [DO Concept]
- piebaldism [MeSH Descriptor]
- piebaldism [MeSH concept]
DO Cross reference
- piebaldism [DO Concept]
Genes related to phenotype
- Kit protooncogene, receptor tyrosine kinase [OMIM gene]
HPO term(s)
- Abnormality of the ear [HPO term]
- Absent pigmentation of the ventral chest [HPO term]
- Aganglionic megacolon [HPO term]
- Autosomal dominant inheritance [HPO term]
- Heterochromia iridis [HPO term]
- Neoplasm [HPO term]
- Partial albinism [HPO term]
- Piebaldism [HPO term]
- White forelock [HPO term]
ORDO concept(s)
- Piebaldism [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Partial albinism [HPO term]
- Partial albinism (disorder) [SNOMED CT concept]
- Piebaldism [ORDO Disease]
- Piebaldism [NCIt concept]
- Piebaldism [HPO term]
- Piebaldism [MedDRA Preferred Term]
- Piebaldism (disorder) [SNOMED CT concept]
- partial albinism [SNOMED Notion]
- piebaldism [MeSH Descriptor]
- piebaldism [MeSH concept]
- piebaldism [DO Concept]
- piebaldism [Disease (Nov.)]

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