ulnar-mammary syndrome
Information
- Disease name
- ulnar-mammary syndrome
- Disease ID
- DOID:0060614
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/8595424, url:https\://www.ncbi.nlm.nih.gov/pubmed/8923944]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:118
- Cross Reference ID (Disease Ontology)
- MESH:C536937
- Cross Reference ID (Disease Ontology)
- MIM:181450
- Cross Reference ID (Disease Ontology)
- ORDO:3138
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:700211007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1866994
- Exact Synonym (Disease Ontology)
- Pallister ulnar-mammary syndrome
- Exact Synonym (Disease Ontology)
- Schinzel syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 3138
- MedGen concept unique identifier (MedGen Concept name)
- C1866994
- MedGen unique identifier (MedGen Concept name)
- 357886