Perching syndrome

Preferred Label : Perching syndrome;

Symbol : PERCHING;

CISMeF acronym : CISS3; PERCHING;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CISS3; Crisponi/cold-induced sweating syndrome 3;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the KELCH-like 7 gene (KLHL7, 611119.0004);

Prefixed ID : #617055;

Détails

Origin ID

617055;

UMLS CUI

C4310742;

Automatic exact mappings (from CISMeF team)
- Perch [NCIt concept]
- perch [MeSH concept]
- perches [MeSH concept]
- perches [MeSH Descriptor]
Currated CISMeF NLP mapping
- cold-induced sweating syndrome 3 [DO Concept]
DO Cross reference
- cold-induced sweating syndrome 3 [DO Concept]
False automatic mappings
- Square Rod [NCIt concept]
Genes related to phenotype
- Kelch-like 7 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Depressed nasal bridge [HPO term]
- Dysphagia [HPO term]
- Feeding difficulties [HPO term]
- Fever [HPO term]
- Flexion contracture [HPO term]
- Full cheeks [HPO term]
- High palate [HPO term]
- Infantile onset [HPO term]
- Respiratory distress [HPO term]
- Rod-cone dystrophy [HPO term]
ORDO concept(s)
- Cold-induced sweating syndrome [ORDO Disease]
See also inter- (CISMeF)
- KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Cold-induced sweating syndrome [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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