Frank-Ter Haar syndrome

Summary

DOID:0111789 - Frank-Ter Haar syndrome

Disease Ontology 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.

Synonyms: autosomal recessive Melnick-Needles syndrome, Borrone dermatocardioskeletal syndrome, FTHS, megalocornea, multiple skeletal anomalies, and developmental delay, Ter Haar syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: sh3pxd2b

MIM:

MIM:249420 - FRANK-TER HAAR SYNDROME; FTHS

MIM:249420 - FRANK-TER HAAR SYNDROME; FTHS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), otopalatodigital syndrome spectrum disorder (is_a)