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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:macrocephaly-autism syndrome
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Accession:DOID:0060867 term browser browse the term
Definition:A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. (DO)
Synonyms:exact_synonym: autism spectrum disorder (ASD) with macrocephaly;   autism spectrum disorder and macrocephaly;   macrocephaly-intellectual disability-autism syndrome
 primary_id: MESH:C565342
 alt_id: OMIM:605309
 xref: ORDO:210548
For additional species annotation, visit the Alliance of Genome Resources.


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macrocephaly-autism syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Macrocephaly/autism syndrome ClinVar PMID:25741868, PMID:27535533 NCBI chr 1:251,417,849...251,420,794 JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Macrocephaly/autism syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.H93R, p.D252G, p.F241S (human)
OMIM
ClinVar
CTD
PMID:9140396, PMID:9241266, PMID:9259288, PMID:9399897, PMID:9467011, PMID:9598803, PMID:9685848, PMID:9832032, PMID:9856571, PMID:10232405, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10555148, PMID:10606430, PMID:10749983, PMID:10848731, PMID:10866302, PMID:10920277, PMID:10923032, PMID:11238682, PMID:11274365, PMID:11504908, PMID:11685670, PMID:11918710, PMID:12372056, PMID:12844284, PMID:12938083, PMID:14518070, PMID:15016963, PMID:15211648, PMID:15254419, PMID:15647370, PMID:15805158, PMID:16773562, PMID:16952599, PMID:17286265, PMID:17392703, PMID:17427195, PMID:17526800, PMID:17526801, PMID:17847000, PMID:17873882, PMID:17954274, PMID:18558293, PMID:18725974, PMID:18767981, PMID:19265751, PMID:19340001, PMID:19351834, PMID:19366826, PMID:19458356, PMID:19668082, PMID:19829307, PMID:19903786, PMID:20018398, PMID:20085938, PMID:20453058, PMID:20619739, PMID:20718038, PMID:20881644, PMID:21194675, PMID:21659347, PMID:21828076, PMID:21956414, PMID:22162582, PMID:22162589, PMID:22252256, PMID:22266152, PMID:22381246, PMID:22479427, PMID:22491738, PMID:22505997, PMID:22595938, PMID:22628360, PMID:22703879, PMID:23160955, PMID:23315997, PMID:23335809, PMID:23349303, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23555315, PMID:23695273, PMID:23764071, PMID:23825907, PMID:23934601, PMID:24033266, PMID:24052722, PMID:24088041, PMID:24123798, PMID:24136893, PMID:24345843, PMID:24468202, PMID:24763289, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25288137, PMID:25326635, PMID:25326637, PMID:25525159, PMID:25527629, PMID:25647146, PMID:25669429, PMID:25741868, PMID:25756585, PMID:25910213, PMID:25980754, PMID:26229595, PMID:26443266, PMID:26467025, PMID:26579216, PMID:26633545, PMID:26773036, PMID:26800850, PMID:27426521, PMID:27428751, PMID:27477328, PMID:27535533, PMID:28086757, PMID:28286253, PMID:28475857, PMID:28492532, PMID:28526761, PMID:28655553, PMID:28677221, PMID:29373119, PMID:29706350, PMID:29706633, PMID:29785012, PMID:29874181, PMID:30287823, PMID:30311381, PMID:32238909, PMID:32860008, PMID:15805158 RGD:12832751 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      macrocephaly-autism syndrome 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              developmental disorder of mental health 3136
                pervasive developmental disorder 1813
                  autism spectrum disorder 1807
                    autistic disorder 1660
                      macrocephaly-autism syndrome 2
paths to the root

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