De sanctis-cacchione syndrome

Preferred Label : De sanctis-cacchione syndrome;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Prefixed ID : #278800;

Details

Origin ID

278800;

UMLS CUI

C0265201;

Currated CISMeF NLP mapping
- De Sanctis Cacchione syndrome [PASCAL descriptor]
- De Sanctis Cacchione syndrome [Disease (Nov.)]
- De Sanctis-Cacchione Syndrome [NCIt concept]
- De Sanctis-Cacchione syndrome [MeSH concept]
- De Sanctis-Cacchione syndrome [ORDO Disease]
- Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) [Inactive SNOMED CT concept]
- de Sanctis-Cacchione syndrome [MeSH Supplementary Concept]
- desanctis-cacchione syndrome [SNOMED Notion]
Genes related to phenotype
- Ercc excision repair 6, chromatin remodeling factor [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal degeneration [HPO term]
- Babinski sign [HPO term]
- Basal ganglia calcification [HPO term]
- Bilateral coxa valga [HPO term]
- Bilateral cryptorchidism [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebral and olivopontocerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Childhood onset [HPO term]
- Choreoathetosis [HPO term]
- Conjunctivitis [HPO term]
- Cutaneous photosensitivity [HPO term]
- Decreased CSF 5-hydroxyindolacetic acid [HPO term]
- Defective DNA repair after ultraviolet radiation damage [HPO term]
- Dermal atrophy [HPO term]
- Dwarfism [HPO term]
- Ectropion [HPO term]
- Entropion [HPO term]
- Equinovarus deformity [HPO term]
- Global brain atrophy [HPO term]
- Global developmental delay [HPO term]
- Gonadal hypoplasia [HPO term]
- Hypermelanotic macule [HPO term]
- Hypertonia [HPO term]
- Hyporeflexia [HPO term]
- Intellectual disability [HPO term]
- Keratitis [HPO term]
- Leukodystrophy [HPO term]
- Low intelligence [HPO term]
- Melanoma [HPO term]
- Mental deterioration [HPO term]
- Microcephaly [HPO term]
- Olivopontocerebellar atrophy [HPO term]
- Optic atrophy [HPO term]
- Parakeratosis [HPO term]
- Peripheral neuropathy [HPO term]
- Poikiloderma [HPO term]
- Scissor gait [HPO term]
- Sensorineural hearing impairment [HPO term]
- Severe short stature [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Telangiectasia [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- De Sanctis-Cacchione syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- De Sanctis Cacchione syndrome [PASCAL descriptor]
- De Sanctis Cacchione syndrome [Disease (Nov.)]
- De Sanctis-Cacchione Syndrome [NCIt concept]
- De Sanctis-Cacchione syndrome [ORDO Disease]
- De Sanctis-Cacchione syndrome [MeSH concept]
- De Sanctis-Cacchione syndrome [DO Concept]
- Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) [Inactive SNOMED CT concept]
- de Sanctis-Cacchione syndrome [MeSH Supplementary Concept]
- desanctis-cacchione syndrome [SNOMED Notion]

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