Schaaf-yang syndrome

Preferred Label : Schaaf-yang syndrome;

Symbol : SHFYNG;

CISMeF acronym : PWLS; SHFYNG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PWLS; Prader-willi-like syndrome; Chitayat-hall syndrome; Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mage-like 2 gene (MAGEL2, 605283.0001);

Prefixed ID : #615547;

Détails

Origin ID

615547;

UMLS CUI

C5575066;

Automatic exact mappings (from CISMeF team)
- Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies [MeSH concept]
- arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- MAGEL2-related Prader-Willi-like syndrome [ORDO Disease]
- Prader-Willi-like syndrome [ORDO Disease]
- Prader-Willi-like syndrome (disorder) [SNOMED CT concept]
- Schaaf-Yang syndrome [DO Concept]
- Schaaf-Yang syndrome [MeSH Supplementary Concept]
DO Cross reference
- Schaaf-Yang syndrome [DO Concept]
Genes related to phenotype
- Mage-like 2 [OMIM gene]
HPO term(s)
- Abnormality of the philtrum [HPO term]
- Absent speech [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Camptodactyly [HPO term]
- Clinodactyly [HPO term]
- Coarse facial features [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Decreased fetal movement [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Esotropia [HPO term]
- Failure to thrive in infancy [HPO term]
- Feeding difficulties [HPO term]
- Fetal akinesia sequence [HPO term]
- Flexion contracture [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hypogonadism [HPO term]
- Impulsivity [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Low-set ears [HPO term]
- Mandibular prognathia [HPO term]
- Micropenis [HPO term]
- Myopia [HPO term]
- Narrow forehead [HPO term]
- Narrow palm [HPO term]
- Neonatal hypotonia [HPO term]
- Obesity [HPO term]
- Open mouth [HPO term]
- Polyphagia [HPO term]
- Retrognathia [HPO term]
- Rocker bottom foot [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Short palpebral fissure [HPO term]
- Short stature [HPO term]
- Sleep apnea [HPO term]
- Small hand [HPO term]
- Tapered finger [HPO term]
- Thick eyebrow [HPO term]
ORDO concept(s)
- MAGEL2-related Prader-Willi-like syndrome [ORDO Disease]
- Prader-Willi syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MAGE family member L2-related Prader-Willi-like syndrome (disorder) [SNOMED CT concept]
- Prader-Willi-like syndrome (disorder) [SNOMED CT concept]
- Schaaf-Yang syndrome [DO Concept]
- Schaaf-Yang syndrome [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- MAGE family member L2-related Prader-Willi-like syndrome (disorder) [SNOMED CT concept]

Position du mot-clé dans l'(les) arborescence(s) :

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