Rothmund-thomson syndrome, type 1

Preferred Label : Rothmund-thomson syndrome, type 1;

Symbol : RTS1;

CISMeF acronym : RTS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Poikiloderma atrophicans and cataract;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the anaphase-promoting complex, subunit-1 gene (ANAPC1, 608473.0001);

Prefixed ID : #618625;

Détails

Origin ID

618625;

UMLS CUI

C5231433;

Currated CISMeF NLP mapping
- Rothmund Thomson syndrome type 1 (disorder) [SNOMED CT concept]
- Rothmund-Thomson Syndrome Type 1 [NCIt concept]
- Rothmund-Thomson syndrome type 1 [ORDO Disease]
- Rothmund-Thomson syndrome type 1 [ICD-11 More detail]
Genes related to phenotype
- Anaphase-promoting complex, subunit 1 [OMIM gene]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Absent eyebrow [HPO term]
- Absent eyelashes [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cafe-au-lait spot [HPO term]
- Conical tooth [HPO term]
- Delayed skeletal maturation [HPO term]
- Global developmental delay [HPO term]
- Hyperkeratosis [HPO term]
- Hypothyroidism [HPO term]
- Juvenile cataract [HPO term]
- Male hypogonadism [HPO term]
- Nail dystrophy [HPO term]
- Osteoporosis [HPO term]
- Poikiloderma [HPO term]
- Premature ovarian insufficiency [HPO term]
- Recurrent otitis media [HPO term]
- Short stature [HPO term]
- Sparse hair [HPO term]
- Thin nail [HPO term]
ORDO concept(s)
- Rothmund-Thomson syndrome type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rothmund Thomson syndrome type 1 (disorder) [SNOMED CT concept]
- Rothmund-Thomson Syndrome Type 1 [NCIt concept]
Validated automatic mappings to NTBT
- rothmund-thomson syndrome [MeSH Descriptor]

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