Seckel syndrome 6

Preferred Label : Seckel syndrome 6;

Symbol : SCKL6;

CISMeF acronym : SCKL6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the centrosomal protein, 63-KD gene (CEP63, 614724.0001);

Prefixed ID : #614728;

Détails

Origin ID

614728;

UMLS CUI

C3553582;

Currated CISMeF NLP mapping
- Seckel syndrome 6 [DO Concept]
DO Cross reference
- Seckel syndrome 6 [DO Concept]
Genes related to phenotype
- Centrosomal protein, 63-kd [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Seckel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Seckel syndrome 6 [DO Concept]

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

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