Tetraamelia syndrome 1

Preferred Label : Tetraamelia syndrome 1;

Symbol : TETAMS1;

CISMeF acronym : TETAMS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tetraamelia syndrome, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the wingless-type MMTV integration site family, member 3 gene (WNT3, 165330.0001);

Prefixed ID : #273395;

Details

Origin ID

273395;

UMLS CUI

C4012268;

Automatic exact mappings (from CISMeF team)
- Tetraamelia-multiple malformations syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Tetra-amelia autosomal recessive [MeSH concept]
- tetra-amelia autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- tetraamelia syndrome 1 [DO Concept]
Genes related to phenotype
- Wingless-type mmtv integration site family, member 3 [OMIM gene]
HPO term(s)
- Abnormal clavicle morphology [HPO term]
- Abnormal scapula morphology [HPO term]
- Absent external genitalia [HPO term]
- Adrenal gland agenesis [HPO term]
- Anal atresia [HPO term]
- Asplenia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Fetal onset [HPO term]
- Gastroschisis [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of the fallopian tube [HPO term]
- Hypoplastic pelvis [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Peripheral pulmonary vessel aplasia [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal agenesis [HPO term]
- Single naris [HPO term]
- Single umbilical artery [HPO term]
- Tetraamelia [HPO term]
- Urethral atresia [HPO term]
- Vaginal atresia [HPO term]
Narrower ORDO disease(s)
- Tetraamelia-multiple malformations syndrome [ORDO Disease]
ORDO concept(s)
- Tetraamelia-multiple malformations syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Isolated tetra-amelia [ORDO Disease]

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