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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Arthrogryposis (D001176)
Parent Node: Encephalocele (D004677)
..Starting node ..Podder-Tolmie syndrome (C537518)
Child Nodes:
Sister Nodes:
..Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)
..Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant (C567185)
..DK Phocomelia Syndrome (C565618)
..Fronto-facio-nasal dysplasia (C538063)
..Knobloch syndrome (C537209)
..Knobloch Syndrome Type II (C548030)
..Knobloch Syndrome Type III (C548031)
..Laryngeal Atresia, Encephalocele, and Limb Deformities (C564620)
..Meckel syndrome type 1 (C536133)
..Meckel syndrome type 2 (C536131)
..Meckel syndrome type 3 (C536132)
..Meckel Syndrome, Type 4 (C567003)
..Meckel Syndrome, Type 5 (C566915)
..Meckel Syndrome, Type 6 (C567365)
..Meckel-Like Cerebrorenodigital Syndrome (C567004)
..Parietal Foramina (C566826)
..Parietal Foramina 1 (C566827)
..Parietal Foramina 2 (C566510)
..Parietal Foramina 3 (C563697)
..Parietal Foramina With Cleidocranial Dysplasia (C566825)
..Podder-Tolmie syndrome (C537518)
..Sakoda Complex (C567055)
..Zechi-Ceide Syndrome (C567865)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9043
Name:	Podder-Tolmie syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D001176\|MESH:D004677
TreeNumbers:	C05.550.150/C537518 \|C05.651.102/C537518 \|C05.660.077/C537518 \|C10.500.680.488/C537518 \|C16.131.077/C537518 \|C16.131.621.077/C537518 \|C16.131.666.680.488/C537518 \|C23.300.707.186/C537518
Synonyms:	Meningoencephalocele, arthrogryposis and hypoplastic thumbs
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease\|Nervous system disease\|Pathology (anatomical condition)
Reference:	MedGen: C537518 MeSH: C537518 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants