Noonan syndrome-like disorder with loose anagen hair 2

Preferred Label : Noonan syndrome-like disorder with loose anagen hair 2;

Symbol : NSLH2;

CISMeF acronym : NSLH2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein phosphatase 1, catalytic subunit, beta isoform gene (PPP1CB, 600590.0001);

Prefixed ID : #617506;

Details

Origin ID

617506;

UMLS CUI

C4479577;

Automatic exact mappings (from CISMeF team)
- PPP1CB wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 [NCIt concept]
- Noonan syndrome-like disorder with loose anagen hair 2 [DO Concept]
DO Cross reference
- Noonan syndrome-like disorder with loose anagen hair 2 [DO Concept]
Genes related to phenotype
- Protein phosphatase 1, catalytic subunit, beta isoform [OMIM gene]
HPO term(s)
- Anxiety [HPO term]
- Aortic root aneurysm [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Broad neck [HPO term]
- Cafe-au-lait spot [HPO term]
- Chiari type I malformation [HPO term]
- Chronic constipation [HPO term]
- Coarctation of aorta [HPO term]
- Coarse hair [HPO term]
- Congenital onset [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Curly hair [HPO term]
- Dandy-Walker malformation [HPO term]
- Deep philtrum [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Dermal translucency [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Facial hemangioma [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Fetal onset [HPO term]
- Freckling [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High anterior hairline [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic aortic arch [HPO term]
- Hypotonia [HPO term]
- Joint hypermobility [HPO term]
- Lacrimal duct stenosis [HPO term]
- Long philtrum [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Mitral regurgitation [HPO term]
- Narrow forehead [HPO term]
- Nystagmus [HPO term]
- Optic nerve hypoplasia [HPO term]
- Overfolded helix [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Pectus carinatum [HPO term]
- Pectus excavatum [HPO term]
- Peripheral pulmonary artery stenosis [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Preauricular pit [HPO term]
- Prominent forehead [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Relative macrocephaly [HPO term]
- Right bundle branch block [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Slow-growing hair [HPO term]
- Smooth philtrum [HPO term]
- Sparse hair [HPO term]
- Sparse lateral eyebrow [HPO term]
- Thickened helices [HPO term]
- Thin skin [HPO term]
- Thin upper lip vermilion [HPO term]
- Triangular mouth [HPO term]
- Tricuspid regurgitation [HPO term]
- Underdeveloped nasal alae [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Webbed neck [HPO term]
- Wide intermamillary distance [HPO term]
- Wide nose [HPO term]
- Widely spaced teeth [HPO term]
Not associated HPO term(s)
- Hypertrophic cardiomyopathy [HPO term]
ORDO concept(s)
- Noonan syndrome-like disorder with loose anagen hair [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 [NCIt concept]

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