Frontometaphyseal dysplasia 2

Preferred Label : Frontometaphyseal dysplasia 2;

Symbol : FMD2;

CISMeF acronym : FMD2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mitogen-activated protein kinase kinase kinase-7 gene (MAP3K7, 602614.0001);

Prefixed ID : #617137;

Details

Origin ID

617137;

UMLS CUI

C4310697;

Automatic exact mappings (from CISMeF team)
- frontometaphyseal dysplasia 2 [DO Concept]
DO Cross reference
- frontometaphyseal dysplasia 2 [DO Concept]
Genes related to phenotype
- Mitogen-activated protein kinase kinase kinase 7 [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Bifid uvula [HPO term]
- Blue sclerae [HPO term]
- Broad nasal tip [HPO term]
- Camptodactyly [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital hip dislocation [HPO term]
- Cryptorchidism [HPO term]
- Decreased muscle mass [HPO term]
- Deep philtrum [HPO term]
- Delayed puberty [HPO term]
- Depressed nasal bridge [HPO term]
- Dislocated radial head [HPO term]
- Downslanted palpebral fissures [HPO term]
- Feeding difficulties in infancy [HPO term]
- Finger clinodactyly [HPO term]
- Full cheeks [HPO term]
- Fused cervical vertebrae [HPO term]
- Gastroesophageal reflux [HPO term]
- High palate [HPO term]
- Hip contracture [HPO term]
- Hirsutism [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability, mild [HPO term]
- Low anterior hairline [HPO term]
- Low-set ears [HPO term]
- Neurogenic bladder [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Pectus excavatum [HPO term]
- Pierre-Robin sequence [HPO term]
- Pointed chin [HPO term]
- Prominent supraorbital ridges [HPO term]
- Pulmonic stenosis [HPO term]
- Pyloric stenosis [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short philtrum [HPO term]
- Stridor [HPO term]
- Subglottic stenosis [HPO term]
- Talipes equinovarus [HPO term]
- Thick eyebrow [HPO term]
- Tracheal stenosis [HPO term]
- Ulcerative colitis [HPO term]
- Ulnar deviation of the hand [HPO term]
- Webbed neck [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Frontometaphyseal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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