Abcd syndrome - CISMeF

Preferred Label : Abcd syndrome;

Symbol : ABCDS;

CISMeF acronym : ABCDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness;

Inheritance : Autosomal recessive;

Prefixed ID : #600501;

Details

Origin ID

600501;

UMLS CUI

C1838099;

Automatic exact mappings (from CISMeF team)
- EDNRB wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- ABCD syndrome [DO Concept]
- ABCD syndrome [MeSH concept]
- ABCD syndrome [MeSH Supplementary Concept]
- ABCD syndrome [ORDO Disease]
- Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural deafness [ICD-11 More detail]
DO Cross reference
- ABCD syndrome [DO Concept]
Genes related to phenotype
- Endothelin receptor, type b [OMIM gene]
HPO term(s)
- Abnormal auditory evoked potentials [HPO term]
- Aganglionic megacolon [HPO term]
- Albinism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Hearing impairment [HPO term]
- Hypopigmentation of the fundus [HPO term]
- Large for gestational age [HPO term]
- Retinal depigmentation [HPO term]
ORDO concept(s)
- ABCD syndrome [ORDO Disease]
See also inter- (CISMeF)
- Waardenburg Shah syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ABCD syndrome [ORDO Disease]
- ABCD syndrome [MeSH Supplementary Concept]
- ABCD syndrome [MeSH concept]
- ABCD syndrome [DO Concept]
- Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural deafness [ICD-11 More detail]

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