Dubowitz syndrome

Preferred Label : Dubowitz syndrome;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Neoplasia : Neuroblastoma; Aplastic anemia; Acute lymphatic leukemia; Lymphoma;

Prefixed ID : %223370;

Details

Origin ID

223370;

UMLS CUI

C0175691;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category]
- Congenital malformation syndromes predominantly associated with short stature [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Dubowitz Syndrome [NCIt concept]
- Dubowitz syndrome [PASCAL descriptor]
- Dubowitz syndrome [DO Concept]
- Dubowitz syndrome [ICD-11 More detail]
- Dubowitz syndrome [MedDRA Preferred Term]
- Dubowitz syndrome [MeSH concept]
- Dubowitz syndrome [ORDO Disease]
- Dubowitz's syndrome (disorder) [SNOMED CT concept]
- dubowitz syndrome [MeSH Supplementary Concept]
- dubowitz's syndrome [SNOMED Notion]
DO Cross reference
- Dubowitz syndrome [DO Concept]
HPO term(s)
- Acute lymphoblastic leukemia [HPO term]
- Agenesis of permanent teeth [HPO term]
- Aplastic anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Broad nasal tip [HPO term]
- Carious teeth [HPO term]
- Chronic diarrhea [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cryptorchidism [HPO term]
- Decreased circulating IgA level [HPO term]
- Decreased circulating IgG level [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Dysplastic ears [HPO term]
- Eczema [HPO term]
- Epicanthus [HPO term]
- Episodic vomiting [HPO term]
- Facial asymmetry [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- High pitched voice [HPO term]
- High, sloping forehead [HPO term]
- High-arched palate [HPO term]
- Hyperactivity [HPO term]
- Hypermetropia [HPO term]
- Hypoplasia of the iris [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Iris coloboma [HPO term]
- Low-set ears [HPO term]
- Lymphoma [HPO term]
- Megalocornea [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Neuroblastoma [HPO term]
- Otitis media [HPO term]
- Pes planus [HPO term]
- Postnatal growth failure [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent ears [HPO term]
- Protruding ear [HPO term]
- Ptosis [HPO term]
- Recurrent infections [HPO term]
- Rod-cone dystrophy [HPO term]
- Sacral dimple [HPO term]
- Shallow orbital ridges [HPO term]
- Short attention span [HPO term]
- Short palpebral fissure [HPO term]
- Sloping forehead [HPO term]
- Small face [HPO term]
- Sparse lateral eyebrow [HPO term]
- Sparse scalp hair [HPO term]
- Speech delay [HPO term]
- Strabismus [HPO term]
- Submucous cleft hard palate [HPO term]
- Syndactyly [HPO term]
- Telecanthus [HPO term]
- Underdeveloped supraorbital ridges [HPO term]
- Velopharyngeal insufficiency [HPO term]
- Wide nasal bridge [HPO term]
- obsolete Tapetoretinal degeneration [HPO term]
ORDO concept(s)
- Dubowitz syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dubowitz Syndrome [NCIt concept]
- Dubowitz syndrome [MedDRA Preferred Term]
- Dubowitz syndrome [ORDO Disease]
- Dubowitz syndrome [MeSH concept]
- Dubowitz syndrome [DO Concept]
- Dubowitz syndrome [PASCAL descriptor]
- Dubowitz syndrome [ICD-11 More detail]
- Dubowitz's syndrome (disorder) [SNOMED CT concept]
- dubowitz syndrome [MeSH Supplementary Concept]
- dubowitz's syndrome [SNOMED Notion]

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