Nance-horan syndrome

Preferred Label : Nance-horan syndrome;

Symbol : NHS;

CISMeF acronym : NHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract-dental syndrome; Mesiodens-cataract syndrome; Cataract, X-linked, with hutchinsonian teeth;

Description : Nance-Horan syndrome is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation (summary by Burdon et al., 2003).;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutations in the NHS gene (NHS, 300457.0001);

Prefixed ID : #302350;

Details

Origin ID

302350;

UMLS CUI

C0796085;

Automatic exact mappings (from CISMeF team)
- NHS actin remodeling regulator [HGNC gene]
- NHS actin remodeling regulator [ORDO Gene]
- National Health Systems [DeCS]
- Serum, Horse [NCIt concept]
Currated CISMeF NLP mapping
- Nance-Horan syndrome [DO Concept]
- Nance-Horan syndrome [ICD-11 More detail]
- Nance-Horan syndrome [MeSH concept]
- Nance-Horan syndrome [MeSH Supplementary Concept]
- Nance-Horan syndrome [ORDO Disease]
- Nance-Horan syndrome (disorder) [SNOMED CT concept]
- cataract dental syndrome [Disease (Nov.)]
DO Cross reference
- Nance-Horan syndrome [DO Concept]
Genes related to phenotype
- Nhs actin remodeling regulator [OMIM gene]
HPO term(s)
- Autism [HPO term]
- Broad finger [HPO term]
- Developmental cataract [HPO term]
- Diastema [HPO term]
- Glaucoma [HPO term]
- Intellectual disability, moderate [HPO term]
- Long face [HPO term]
- Long, narrow facies [HPO term]
- Macrotia [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Mulberry molar [HPO term]
- Narrow face [HPO term]
- Nystagmus [HPO term]
- Posterior Y-sutural cataract [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent nose [HPO term]
- Screwdriver-shaped incisors [HPO term]
- Short phalanx of finger [HPO term]
- Supernumerary maxillary incisor [HPO term]
- Visual loss [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Nance-Horan syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nance-Horan syndrome [ORDO Disease]
- Nance-Horan syndrome [MeSH Supplementary Concept]
- Nance-Horan syndrome [MeSH concept]
- Nance-Horan syndrome [DO Concept]
- Nance-Horan syndrome (disorder) [SNOMED CT concept]
- cataract dental syndrome [Disease (Nov.)]

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