loading...| Preferred Name |
ulnar-mammary syndrome |
| Synonyms |
Schinzel syndrome |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0060614 |
| database_cross_reference |
GARD:118 OMIM:181450 ORDO:3138 MESH:C536937 SNOMEDCT_US_2022_09_01:700211007 UMLS_CUI:C1866994 |
| definition |
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. |
| has exact synonym |
Schinzel syndrome Pallister ulnar-mammary syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0060614 |
| in_subset | |
| label |
ulnar-mammary syndrome |
| notation |
DOID:0060614 |
| prefLabel |
ulnar-mammary syndrome |
| subClassOf |