Bamforth-Lazarus syndrome

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Echinobase

Summary

Literature (0)

DOID:0050655 - Bamforth-Lazarus syndrome

Disease Ontology Definition:A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22.

Synonyms: HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE

Echinobase 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

MIM:

MIM:241850 - hypothyroidism, athyroidal, with spiky hair and cleft palate

MIM:241850 - hypothyroidism, athyroidal, with spiky hair and cleft palate

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

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

Parent(s): hypothyroidism (is_a)