Ulnar-mammary syndrome

Preferred Label : Ulnar-mammary syndrome;

Symbol : UMS;

CISMeF acronym : UMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Schinzel syndrome; Pallister ulnar-mammary syndrome;

Description : The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the T-Box 3 gene (TBX3, 601621.0001);

Prefixed ID : #181450;

Détails

Origin ID

181450;

UMLS CUI

C1866994;

Automatic exact mappings (from CISMeF team)
- Schinzel syndrome [MedDRA Preferred Term]
- TBX3 wt Allele [NCIt concept]
- symbol withdrawn UMS [HGNC gene]
CISMeF manual mappings
- Ulnar mammary syndrome [PASCAL descriptor]
- Ulnar mammary syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Ulnar-mammary syndrome [ICD-11 More detail]
- Ulnar-mammary syndrome [MeSH concept]
- Ulnar-mammary syndrome [ORDO Disease]
- ulnar-mammary syndrome [DO Concept]
- ulnar-mammary syndrome [MeSH Supplementary Concept]
DO Cross reference
- ulnar-mammary syndrome [DO Concept]
False automatic mappings
- Micrometer (qualifier value) [SNOMED CT concept]
- Micromole/liter (qualifier value) [SNOMED CT concept]
- Micron [NCIt concept]
- United States Minor Outlying Islands [NCIt concept]
Genes related to phenotype
- T-box transcription factor 3 [OMIM gene]
HPO term(s)
- Absent radius [HPO term]
- Anal atresia [HPO term]
- Anal stenosis [HPO term]
- Anterior pituitary hypoplasia [HPO term]
- Aplasia of the 3rd finger [HPO term]
- Aplasia of the 3rd metacarpal [HPO term]
- Aplasia of the 4th finger [HPO term]
- Aplasia of the 4th metacarpal [HPO term]
- Aplasia of the 5th finger [HPO term]
- Aplasia of the 5th metacarpal [HPO term]
- Aplasia of the ulna [HPO term]
- Arrhythmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axillary apocrine gland hypoplasia [HPO term]
- Bicornuate uterus [HPO term]
- Breast hypoplasia [HPO term]
- Congenital onset [HPO term]
- Deformed radius [HPO term]
- Delayed puberty [HPO term]
- Ectopic posterior pituitary [HPO term]
- Elbow flexion contracture [HPO term]
- Hypodontia [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the ulna [HPO term]
- Hypoplastic clavicles [HPO term]
- Hypoplastic nipples [HPO term]
- Hypoplastic scapulae [HPO term]
- Hypoplastic/absent/deformed ulna [HPO term]
- Imperforate hymen [HPO term]
- Inguinal hernia [HPO term]
- Inverted nipples [HPO term]
- Micropenis [HPO term]
- Obesity [HPO term]
- Postaxial hand polydactyly [HPO term]
- Pyloric stenosis [HPO term]
- Shawl scrotum [HPO term]
- Short 4th toe [HPO term]
- Short 5th finger [HPO term]
- Short 5th toe [HPO term]
- Short clavicles [HPO term]
- Short humerus [HPO term]
- Small scrotum [HPO term]
- Sparse axillary hair [HPO term]
- Sparse lateral eyebrow [HPO term]
- Stiff elbow [HPO term]
- Subglottic stenosis [HPO term]
- Ventricular septal defect [HPO term]
- Young adult onset [HPO term]
- hypoplastic/absent/deformed radius [HPO term]
ORDO concept(s)
- Ulnar-mammary syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Schinzel syndrome [MedDRA Preferred Term]
- Ulnar mammary syndrome [PASCAL descriptor]
- Ulnar mammary syndrome (disorder) [SNOMED CT concept]
- Ulnar-mammary syndrome [ORDO Disease]
- Ulnar-mammary syndrome [MeSH concept]
- ulnar-mammary syndrome [MeSH Supplementary Concept]
- ulnar-mammary syndrome [DO Concept]

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