ZFIN Human Disease: Van Maldergem syndrome

OBO ID: DOID:0060238

Term Name:	Van Maldergem syndrome		Search Ontology:
Synonyms:	cerebro-facio-articular syndrome
Definition:	A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. https://www.ncbi.nlm.nih.gov/pubmed/1633641
References:	GARD:5456 MESH:C536530 OMIM:PS601390 ORDO:314679 SNOMEDCT_US_2023_03_01:763353000 UMLS_CUI:C1832390
Ontology:	Human Disease ( DOID:0060238 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms
has subtype:	Van Maldergem syndrome 1 Van Maldergem syndrome 2 Van Maldergem syndrome 1 Van Maldergem syndrome 2 Show first 5 Terms

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)