ZFIN Human Disease: postaxial acrofacial dysostosis

OBO ID: DOID:0111259

Term Name:	postaxial acrofacial dysostosis		Search Ontology:
Synonyms:	acrofacial dysostosis, Genee-Wiedmann type mandibulfacial dysostosis with postaxial limb anomalies Miller syndrome POADS Postaxial acrodysostosis
Definition:	A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2. (2)
References:	GARD:8410 MESH:C537680 OMIM:263750 ORDO:246 SNOMEDCT_US_2023_03_01:66038001 UMLS_CUI:C0265257
Ontology:	Human Disease ( DOID:0111259 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DHODH	dhodh	Miller syndrome	263750

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None