Cataract 40 - CISMeF

Preferred Label : Cataract 40;

Symbol : CTRCT40;

CISMeF acronym : CCT; CTRCT40; CXN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CCT; Cataract 40 with or without microcornea; Cataract, congenital, X-linked; Cataract, congenital total, with posterior sutural opacities in heterozygotes; CXN;

Inheritance : X-linked; heterozygote expression;

Prefixed ID : #302200;

Details

Origin ID

302200;

UMLS CUI

C4049004;

Automatic exact mappings (from CISMeF team)
- Cardiothoracic surgery (qualifier value) [SNOMED CT concept]
- Cataract, congenital, with microcornea or slight microphthalmia [MeSH concept]
- Early-onset non-syndromic cataract [ORDO Disease]
- FLVCR heme transporter 2 [ORDO Gene]
- cataract, congenital, with microcornea or slight microphthalmia [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- cataract 40 [DO Concept]
DO Cross reference
- cataract 40 [DO Concept]
Genes related to phenotype
- Nhs actin remodeling regulator [OMIM gene]
HPO term(s)
- Congenital nuclear cataract in males [HPO term]
- Nuclear cataract [HPO term]
- Severe visual impairment in males [HPO term]
- Severely reduced visual acuity [HPO term]
- Sutural cataract [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Early-onset non-syndromic cataract [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cataract 40 [DO Concept]

Keyword's position in hierarchy(ies) :

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