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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:SULEIMAN-EL-HATTAB SYNDROME
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Accession:DOID:9000991 term browser browse the term
Definition:This is an autosomal recessive multisystem developmental disorder characterized by hypotonia and feeding difficulties soon after birth, global developmental delay with impaired intellectual development and poor expressive speech, and a general happy demeanor. There is a distinctive facial appearance with microcephaly, thick arched eyebrows with synophrys, hypertelorism, epicanthal folds, low-set ears, broad nasal bridge, and thin upper lip.
Synonyms:exact_synonym: SULEHS
 primary_id: MIM:618950


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SULEIMAN-EL-HATTAB SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff2 ALF transcription elongation factor 2 ISO ClinVar Annotator: match by term: Suleiman-El-Hattab syndrome ClinVar PMID:25741868 NCBI chr  X:147,928,130...148,432,484
Ensembl chr  X:147,928,407...148,429,995 		JBrowse link
G Tasp1 taspase 1 ISO ClinVar Annotator: match by term: Suleiman-El-Hattab syndrome OMIM
ClinVar		 PMID:25741868 PMID:29633245 PMID:31209944 NCBI chr 3:127,176,416...127,408,039
Ensembl chr 3:127,176,692...127,399,600 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      SULEIMAN-EL-HATTAB SYNDROME 2
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        Congenital Abnormalities 7780
          Multiple Abnormalities 3835
            SULEIMAN-EL-HATTAB SYNDROME 2
paths to the root