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ulnar-mammary syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0060614

A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/8923944 url:https://www.ncbi.nlm.nih.gov/pubmed/8595424 ]

Synonyms: Schinzel syndrome Pallister ulnar-mammary syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS_CUI:C1866994
  • GARD:118
  • SNOMEDCT_US_2023_03_01:700211007
  • MIM:181450
  • ORDO:3138
  • MESH:C536937
Subsets

DO_rare_slim

has obo namespace

disease_ontology

id

DOID:0060614