Short-rib thoracic dysplasia 12

Preferred Label : Short-rib thoracic dysplasia 12;

Symbol : SRTD12;

CISMeF acronym : SRPS4; SRTD12;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Short rib syndrome, beemer type; Short rib-polydactyly syndrome, type iv; Srps iv; Beemer-langer syndrome; SRPS4;

Description : Short rib-polydactyly syndromes (SRPS) constitute a group of autosomal recessive disorders characterized by short limb dwarfism and complicated by thoracic hypoplasia (short ribs), polydactyly, and different anomalies of major organs. SRPS type IV may be distinguished from the other SRPSs by frontal bossing, smooth metaphyses, and nonovoid tibiae longer than fibulae (summary by Kovacs et al., 2006).;

Inheritance : Autosomal recessive;

Prefixed ID : %269860;

Details

Origin ID

269860;

UMLS CUI

C0432198;

Currated CISMeF NLP mapping
- Beemer-Langer syndrome [DO Concept]
- Short rib-polydactyly syndrome, Beemer type [MeSH concept]
- Short rib-polydactyly syndrome, Beemer-Langer type [ORDO Disease]
- Short rib-polydactyly syndrome, Beemer-Langer type [ICD-11 More detail]
- Type IV short rib polydactyly syndrome (disorder) [SNOMED CT concept]
- short rib-polydactyly syndrome, beemer type [MeSH Supplementary Concept]
DO Cross reference
- Beemer-Langer syndrome [DO Concept]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Ambiguous genitalia [HPO term]
- Anencephaly [HPO term]
- Ascites [HPO term]
- Atelectasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bowing of the arm [HPO term]
- Bowing of the legs [HPO term]
- Brachydactyly [HPO term]
- Broad foot [HPO term]
- Broad palm [HPO term]
- Cystic renal dysplasia [HPO term]
- Edema [HPO term]
- Epicanthus [HPO term]
- Flat face [HPO term]
- Genu varus [HPO term]
- Hamartoma of tongue [HPO term]
- Hepatomegaly [HPO term]
- High forehead [HPO term]
- Holoprosencephaly [HPO term]
- Horizontal ribs [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic nipples [HPO term]
- Hypoplastic scapulae [HPO term]
- Inguinal hernia [HPO term]
- Intestinal malrotation [HPO term]
- Intrauterine growth retardation [HPO term]
- Limb undergrowth [HPO term]
- Lobulated tongue [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Median cleft lip [HPO term]
- Median cleft lip and palate [HPO term]
- Narrow chest [HPO term]
- Natal tooth [HPO term]
- Neonatal death [HPO term]
- Omphalocele [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Periportal fibrosis [HPO term]
- Polyhydramnios [HPO term]
- Posteriorly rotated ears [HPO term]
- Protuberant abdomen [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal hypoplasia [HPO term]
- Respiratory insufficiency [HPO term]
- Short finger [HPO term]
- Short foot [HPO term]
- Short long bone [HPO term]
- Short neck [HPO term]
- Short palm [HPO term]
- Short ribs [HPO term]
- Short thorax [HPO term]
- Short toe [HPO term]
- Short, bowed limbs [HPO term]
- Splenomegaly [HPO term]
- Thoracic dysplasia [HPO term]
- Ventricular septal defect [HPO term]
- Wide intermamillary distance [HPO term]
ORDO concept(s)
- Short rib-polydactyly syndrome, Beemer-Langer type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beemer-Langer syndrome [DO Concept]
- Short rib-polydactyly syndrome, Beemer type [MeSH concept]
- Short rib-polydactyly syndrome, Beemer-Langer type [ORDO Disease]
- Short rib-polydactyly syndrome, Beemer-Langer type [ICD-11 More detail]
- Type IV short rib polydactyly syndrome (disorder) [SNOMED CT concept]
- short rib-polydactyly syndrome, beemer type [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- short rib-polydactyly syndrome [MeSH Descriptor]

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