Disease browser and phenotype portal

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MSeqDR-LSDB
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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cleidocranial Dysplasia (D002973)
Parent Node: Encephalocele (D004677)
..Starting node ..Parietal Foramina With Cleidocranial Dysplasia (C566825)
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:

8648

Name:

Parietal Foramina With Cleidocranial Dysplasia

Definition:

Alternative IDs:

OMIM:168550

ParentIDs:

MESH:D002973|MESH:D004677

TreeNumbers:

C05.116.099.708.207/C566825 |C05.660.207.207/C566825 |C10.500.680.488/C566825 |C16.131.621.207.207/C566825 |C16.131.666.680.488/C566825 |C23.300.707.186/C566825

Synonyms:

Cleidocranial Dysplasia With Parietal Foramina |PFMCCD

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)

Reference:

MedGen: C566825
MeSH: C566825
OMIM: 168550;

Genes: MSX2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0025247	Dermoid cyst
3	HP:0000256	Macrocephaly
4	HP:0008551	Microtia
5	HP:0002697	Parietal foramina
6	HP:0000894	Short clavicles
7	HP:0002695	Symmetrical, oval parietal bone defects
8	HP:0004492	Widely patent fontanelles and sutures

Disease Causing ClinVar Variants