ZFIN Human Disease: ADULT syndrome

OBO ID: DOID:0050601

Term Name:	ADULT syndrome		Search Ontology:
Synonyms:	acro-dermato-ungual-lacrimal-tooth syndrome
Definition:	A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63. https://pubmed.ncbi.nlm.nih.gov/16114047/
References:	GARD:384 OMIM:103285
Ontology:	Human Disease ( DOID:0050601 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER ADULT syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TP63	tp63	ADULT syndrome	103285

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None