Noonan syndrome-like disorder with loose anagen hair 1

Preferred Label : Noonan syndrome-like disorder with loose anagen hair 1;

Symbol : NSLH1;

CISMeF acronym : NSLH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tosti syndrome; NSLH; Mazzanti syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in homolog of the C. elegans suppressor of clear gene (SHOC2, 602775.0001);

Prefixed ID : #607721;

Details

Origin ID

607721;

UMLS CUI

C4478716;

Automatic exact mappings (from CISMeF team)
- SHOC2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 [NCIt concept]
- Noonan syndrome like disorder with loose anagen hair [Disease (Nov.)]
- Noonan syndrome-like disorder with loose anagen hair [ORDO Disease]
- Noonan syndrome-like disorder with loose anagen hair (disorder) [SNOMED CT concept]
- Noonan syndrome-like disorder with loose anagen hair 1 [DO Concept]
- Noonan-Like syndrome with loose anagen hair [MeSH Supplementary Concept]
- Noonan-Like syndrome with loose anagen hair [MeSH concept]
DO Cross reference
- Noonan syndrome-like disorder with loose anagen hair 1 [DO Concept]
Genes related to phenotype
- Shoc2 leucine-rich repeat scaffold protein [OMIM gene]
HPO term(s)
- Abnormal sternum morphology [HPO term]
- Abnormality of coagulation [HPO term]
- Aortic regurgitation [HPO term]
- Astigmatism [HPO term]
- Atrial septal defect [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Cafe-au-lait spot [HPO term]
- Cryptorchidism [HPO term]
- Cubitus valgus [HPO term]
- Curly hair [HPO term]
- Deep palmar crease [HPO term]
- Delayed ability to walk [HPO term]
- Downslanted palpebral fissures [HPO term]
- Duplicated collecting system [HPO term]
- Eczema [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hemangioma [HPO term]
- High palate [HPO term]
- Hoarse voice [HPO term]
- Hyperactivity [HPO term]
- Hyperextensible skin [HPO term]
- Hyperkeratosis [HPO term]
- Hypermetropia [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypertelorism [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Ichthyosis [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Keratosis pilaris [HPO term]
- Large for gestational age [HPO term]
- Long eyelashes [HPO term]
- Loose anagen hair [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Multiple lentigines [HPO term]
- Myelofibrosis [HPO term]
- Myopia [HPO term]
- Narrow forehead [HPO term]
- Nasal speech [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent forehead [HPO term]
- Ptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Relative macrocephaly [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Sparse hair [HPO term]
- Sparse scalp hair [HPO term]
- Strabismus [HPO term]
- Ventricular septal defect [HPO term]
- Webbed neck [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 1 [NCIt concept]
- Noonan syndrome like disorder with loose anagen hair [Disease (Nov.)]
Validated automatic mappings to NTBT
- Noonan Syndrome-Like Disorder with Loose Anagen Hair [NCIt concept]

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