Ayme-gripp syndrome

Preferred Label : Ayme-gripp syndrome;

Symbol : AYGRP;

CISMeF acronym : AYGRP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the MAF bZIP transcription factor gene (MAF, 177075.0005);

Prefixed ID : #601088;

Details

Origin ID

601088;

UMLS CUI

C1832812;

Automatic exact mappings (from CISMeF team)
- Aymé-Gripp syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Ayme-Gripp syndrome [DO Concept]
- cataracts, congenital, with sensorineural deafness, down Syndrome-Like facial appearance, short stature, and mental retardation [MeSH concept]
- cataracts, congenital, with sensorineural deafness, down Syndrome-Like facial appearance, short stature, and mental retardation [MeSH Supplementary Concept]
DO Cross reference
- Ayme-Gripp syndrome [DO Concept]
Genes related to phenotype
- Maf bzip transcription factor [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Broad eyebrow [HPO term]
- Broad philtrum [HPO term]
- Camptodactyly [HPO term]
- Cerebral atrophy [HPO term]
- Chiari type I malformation [HPO term]
- Congenital sensorineural deafness [HPO term]
- Craniofacial asymmetry [HPO term]
- Delayed cranial suture closure [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental cataract [HPO term]
- Downslanted palpebral fissures [HPO term]
- Flat face [HPO term]
- Hearing impairment [HPO term]
- High forehead [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Microtia [HPO term]
- Midface retrusion [HPO term]
- Nail dystrophy [HPO term]
- Narrow mouth [HPO term]
- Pectus excavatum [HPO term]
- Pericarditis [HPO term]
- Posteriorly rotated ears [HPO term]
- Ptosis [HPO term]
- Radioulnar synostosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Sparse scalp hair [HPO term]
- Tapered finger [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide nasal bridge [HPO term]
- long, broad, and smooth philtrum [HPO term]
ORDO concept(s)
- Aymé-Gripp syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ayme-Gripp syndrome [DO Concept]
- cataracts, congenital, with sensorineural deafness, down Syndrome-Like facial appearance, short stature, and mental retardation [MeSH Supplementary Concept]
- cataracts, congenital, with sensorineural deafness, down Syndrome-Like facial appearance, short stature, and mental retardation [MeSH concept]

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