| Metadata | |
|---|---|
| ID | DOID:0060614 |
| Name | ulnar-mammary syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/8923944, https://www.ncbi.nlm.nih.gov/pubmed/8595424 |
| Xrefs |
SNOMEDCT_US_2023_03_01:700211007 |
| Subsets |
DO_rare_slim |
| Synonyms |
Pallister ulnar-mammary syndrome [EXACT] Schinzel syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |