ZFIN Human Disease: Frank-Ter Haar syndrome

OBO ID: DOID:0111789

Term Name:	Frank-Ter Haar syndrome		Search Ontology:
Synonyms:	autosomal recessive Melnick-Needles syndrome Borrone dermatocardioskeletal syndrome FTHS megalocornea, multiple skeletal anomalies, and developmental delay Ter Haar syndrome
Definition:	An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. (2)
References:	GARD:5138 MESH:C537274 OMIM:249420 ORDO:137834 SNOMEDCT_US_2023_03_01:720958002 UMLS_CUI:C1855305
Ontology:	Human Disease ( DOID:0111789 )

Relationships

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

OTHER Frank-Ter Haar syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SH3PXD2B	sh3pxd2b	Frank-ter Haar syndrome	249420

ZEBRAFISH MODELS

Fish	Conditions	Citations
sh3pxd2b^{zf3422/zf3422} (AB)	standard conditions	de Vos et al., 2020

PHENOTYPE No data available

CITATIONS (1)