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Metadata
ID DOID:0111789
Name Frank-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.
https://www.ncbi.nlm.nih.gov/pubmed/15523657, https://www.ncbi.nlm.nih.gov/pubmed/20137777
Xrefs

GARD:5138

MESH:C537274

OMIM:249420

ORDO:137834

SNOMEDCT_US_2023_03_01:720958002

UMLS_CUI:C1855305

Subsets

DO_rare_slim

Synonyms

autosomal recessive Melnick-Needles syndrome [EXACT]

Borrone dermatocardioskeletal syndrome [EXACT]

FTHS [EXACT]

megalocornea, multiple skeletal anomalies, and developmental delay [EXACT]

Ter Haar syndrome [EXACT]

Parent Relationships

is_a otopalatodigital syndrome spectrum disorder

is_a autosomal recessive disease

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