Cone-rod dystrophy 1

Preferred Label : Cone-rod dystrophy 1;

Symbol : CORD1;

CISMeF acronym : CORD1; CRD1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : CRD1;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970.;

Inheritance : Autosomal dominant (18q21.1-qter); heterogeneous, also a form at 19q13.1-13.2;

Prefixed ID : %600624;

Details

Origin ID

600624;

UMLS CUI

C1833564;

Automatic exact mappings (from CISMeF team)
- cone rod dystrophy 1 (autosomal dominant) [HGNC gene]
Broader ORDO disease(s)
- Cone rod dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Cone-Rod dystrophy 1 [MeSH concept]
- Cone-Rod dystrophy 1 [MeSH Supplementary Concept]
- cone-rod dystrophy 1 [DO Concept]
DO Cross reference
- cone-rod dystrophy 1 [DO Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the ear [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Cone-rod dystrophy by electrophysiology [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Hearing impairment [HPO term]
- Hypogonadism [HPO term]
- Intellectual disability [HPO term]
- Juvenile onset [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cone-Rod dystrophy 1 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 1 [MeSH concept]
- cone-rod dystrophy 1 [DO Concept]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]

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