Nail-patella syndrome

Preferred Label : Nail-patella syndrome;

Symbol : NPS;

CISMeF acronym : NPS; NPS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NPS1; Fong disease; ONYCHOOSTEODYSPLASIA; Turner-kieser syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the LIM homeo box transcription factor 1, beta gene (LMX1B, 602575.0001);

Laboratory abnormalities : Proteinuria; Hematuria;

Prefixed ID : #161200;

Details

Origin ID

161200;

UMLS CUI

C0027341;

Automatic exact mappings (from CISMeF team)
- Do Not Substitute [NCIt concept]
- LMX1B wt Allele [NCIt concept]
- Nail-patella syndrome [ICD-11 Sub-sub category]
- Neuropathic Pain Scale Questionnaire [NCIt concept]
- No past history of (contextual qualifier) (qualifier value) [SNOMED CT concept]
- PNP Gene [NCIt concept]
- Purine Nucleoside Phosphorylase [NCIt concept]
- neuropeptide S [HGNC gene]
Currated CISMeF NLP mapping
- Nail-Patella Syndrome [NCIt concept]
- Nail-Patella syndrome [MeSH concept]
- Nail-patella syndrome [MedDRA Preferred Term]
- Nail-patella syndrome [ORDO Disease]
- Nail-patella syndrome [ACR pathology]
- Nail-patella syndrome (disorder) [SNOMED CT concept]
- nail patella syndrome [Disease (Nov.)]
- nail-patella syndrome [DO Concept]
- nail-patella syndrome [MeSH Descriptor]
- nail-patella syndrome [SNOMED Notion]
DO Cross reference
- nail-patella syndrome [DO Concept]
False automatic mappings
- Nepal [NCIt concept]
- designer drugs [MeSH Descriptor]
Genes related to phenotype
- Lim homeobox transcription factor 1, beta [OMIM gene]
HPO term(s)
- Absence of pectoralis minor muscle [HPO term]
- Absent distal interphalangeal creases [HPO term]
- Anonychia [HPO term]
- Antecubital pterygium [HPO term]
- Autosomal dominant inheritance [HPO term]
- Back pain [HPO term]
- Biceps aplasia [HPO term]
- Cataract [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Concave nail [HPO term]
- Disproportionate prominence of the femoral medial condyle [HPO term]
- Elongated radius [HPO term]
- Glaucoma [HPO term]
- Glenoid fossa hypoplasia [HPO term]
- Glomerulonephritis [HPO term]
- Hematuria [HPO term]
- Hypoplasia of first ribs [HPO term]
- Hypoplastic radial head [HPO term]
- Iliac horns [HPO term]
- Keratoconus [HPO term]
- Lester's sign [HPO term]
- Limited elbow extension [HPO term]
- Longitudinal ridging [HPO term]
- Lumbar hyperlordosis [HPO term]
- Microcornea [HPO term]
- Microphakia [HPO term]
- Nephrotic syndrome [HPO term]
- Patellar aplasia [HPO term]
- Patellar dislocation [HPO term]
- Patellar hypoplasia [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Proteinuria [HPO term]
- Ptosis [HPO term]
- Quadriceps aplasia [HPO term]
- Renal insufficiency [HPO term]
- Ridged nail [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Spina bifida [HPO term]
- Talipes equinovarus [HPO term]
- Thickening of the lateral border of the scapula [HPO term]
- Triceps aplasia [HPO term]
ORDO concept(s)
- Nail-patella syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary onycho-osteodysplasia [MedDRA LLT]
- Nail patella syndrome [PASCAL descriptor]
- Nail-Patella Syndrome [NCIt concept]
- Nail-Patella syndrome [MeSH concept]
- Nail-patella syndrome [ORDO Disease]
- Nail-patella syndrome [MedDRA Preferred Term]
- Nail-patella syndrome [ACR pathology]
- Nail-patella syndrome (disorder) [SNOMED CT concept]
- nail patella syndrome [Disease (Nov.)]
- nail-patella syndrome [SNOMED Notion]
- nail-patella syndrome [MeSH Descriptor]
- nail-patella syndrome [DO Concept]

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