Microcephaly and chorioretinopathy, autosomal recessive, 1

Preferred Label : Microcephaly and chorioretinopathy, autosomal recessive, 1;

Symbol : MCCRP1;

CISMeF acronym : MCCRP1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tubulin-gamma complex-associated protein 6 gene (TUBGCP6, 610053.0001);

Prefixed ID : #251270;

Details

Origin ID

251270;

UMLS CUI

C3278481;

Currated CISMeF NLP mapping
- Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 [NCIt concept]
- microcephaly and chorioretinopathy 1 [DO Concept]
DO Cross reference
- microcephaly and chorioretinopathy 1 [DO Concept]
Genes related to phenotype
- Tubulin-gamma complex-associated protein 6 [OMIM gene]
HPO term(s)
- Abnormality of retinal pigmentation [HPO term]
- Abnormality of skin pigmentation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Chorioretinal dysplasia [HPO term]
- Congenital onset [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Pachygyria [HPO term]
- Retinal detachment [HPO term]
- Retinal dystrophy [HPO term]
- Retinal fold [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Simplified gyral pattern [HPO term]
- Sloping forehead [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Autosomal recessive chorioretinopathy-microcephaly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 [NCIt concept]
Validated automatic mappings to NTBT
- Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) [SNOMED CT concept]
- Autosomal recessive chorioretinopathy-microcephaly syndrome [ORDO Disease]
- Chorioretinopathy - microcephaly, autosomal recessive [ICD-11 More detail]
- microcephaly with chorioretinopathy, autosomal recessive [MeSH Supplementary Concept]
- microcephaly with chorioretinopathy, autosomal recessive [MeSH concept]

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