Ohdo syndrome, X-linked

Preferred Label : Ohdo syndrome, X-linked;

Symbol : OHDOX;

CISMeF acronym : OHDOX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Blepharophimosis-mental retardation syndrome, maat-kievit-brunner type;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the homolog of the S. cerevisiae mediator of RNA polymerase II transcription, subunit 12 (MED12, 300188.0003);

Prefixed ID : #300895;

Détails

Origin ID

300895;

UMLS CUI

C3698541;

CISMeF manual mappings
- Blepharophimosis-intellectual disability syndrome, MKB type [ORDO Disease]
Currated CISMeF NLP mapping
- Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder) [SNOMED CT concept]
DO Cross reference
- Ohdo syndrome [DO Concept]
Genes related to phenotype
- Mediator complex subunit 12 [OMIM gene]
HPO term(s)
- Blepharophimosis [HPO term]
- Bulbous nose [HPO term]
- Cafe-au-lait spot [HPO term]
- Clinodactyly [HPO term]
- Coarse facial features [HPO term]
- Cryptorchidism [HPO term]
- Decreased body weight [HPO term]
- Depressed nasal bridge [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Long philtrum [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Prominent nose [HPO term]
- Ptosis [HPO term]
- Small scrotum [HPO term]
- Smooth philtrum [HPO term]
- Thin vermilion border [HPO term]
- Wide nasal bridge [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Blepharophimosis-intellectual disability syndrome, MKB type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder) [SNOMED CT concept]
- Blepharophimosis-intellectual disability syndrome, MKB type [ORDO Disease]

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