Split-hand with congenital nystagmus, fundal changes, and cataracts

Preferred Label : Split-hand with congenital nystagmus, fundal changes, and cataracts;

CISMeF acronym : KNS;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : KNS; Nystagmus-split hand syndrome; Karsch-neugebauer syndrome;

Inheritance : Autosomal dominant;

Prefixed ID : 183800;

Details

Origin ID

183800;

UMLS CUI

C1866740;

Automatic exact mappings (from CISMeF team)
- KIF5B wt Allele [NCIt concept]
- Karsch-Neugebauer syndrome [MedDRA LLT]
Currated CISMeF NLP mapping
- Karsch Neugebauer syndrome (disorder) [SNOMED CT concept]
- Karsch-Neugebauer syndrome [ORDO Disease]
- Split hand split foot nystagmus [MeSH concept]
- split hand split foot nystagmus [MeSH Supplementary Concept]
False automatic mappings
- CR1 wt Allele [NCIt concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Congenital nystagmus [HPO term]
- Hand monodactyly [HPO term]
- Nystagmus [HPO term]
- Retinopathy [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Karsch-Neugebauer syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Karsch Neugebauer syndrome (disorder) [SNOMED CT concept]
- Karsch-Neugebauer syndrome [ORDO Disease]
- Karsch-Neugebauer syndrome [MedDRA LLT]
- Split hand nystagmus syndrome [MedDRA Preferred Term]
- Split hand split foot nystagmus [MeSH concept]
- split hand split foot nystagmus [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Saint Kitts and Nevis [NCIt concept]

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