Seckel syndrome 5

Preferred Label : Seckel syndrome 5;

Symbol : SCKL5;

CISMeF acronym : SCKL5;

Type : Phenotype, molecular basis known;

Description : Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see 210600.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the centrosomal protein, 152kD gene (CEP152, 613529.0003);

Prefixed ID : #613823;

Détails

Origin ID

613823;

UMLS CUI

C3151187;

Automatic exact mappings (from CISMeF team)
- Seckel syndrome [ORDO Disease]
- centrosomal protein 152 [ORDO Gene]
- centrosomal protein 152 [HGNC gene]
Currated CISMeF NLP mapping
- Seckel syndrome 5 [DO Concept]
DO Cross reference
- Seckel syndrome 5 [DO Concept]
Genes related to phenotype
- Centrosomal protein, 152-kd [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Abnormal cortical gyration [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Clitoral hypertrophy [HPO term]
- Convex nasal ridge [HPO term]
- Cryptorchidism [HPO term]
- Delayed skeletal maturation [HPO term]
- Downslanted palpebral fissures [HPO term]
- High palate [HPO term]
- Hypodontia [HPO term]
- Intellectual disability [HPO term]
- Large beaked nose [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Oligodontia [HPO term]
- Pes planus [HPO term]
- Prominent nasal bridge [HPO term]
- Retrognathia [HPO term]
- Selective tooth agenesis [HPO term]
- Short stature [HPO term]
- Sloping forehead [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Seckel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Seckel syndrome 5 [DO Concept]

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

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