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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Ciliary Motility Disorders (D002925)
Parent Node: Ectodermal Dysplasia (D004476)
Parent Node: Hypohidrosis (D007007)
Parent Node: Hypothyroidism (D007037)
..Starting node ..Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia (C565604)
Child Nodes:
Sister Nodes:
..Bamforth syndrome (C537901)
..Congenital Hypothyroidism (D003409) 17
..Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia (C565604)
..Johanson Blizzard syndrome (C535880)
..Jung Wolff Back Stahl syndrome (C537694)
..Myxedema (D009230)
..Pituitary Hormone Deficiency, Combined, 1 (C567803)
..Pituitary Hormone Deficiency, Combined, 4 (C567492)
..Thyroid Dyshormonogenesis 3 (C562769)
..Thyroid Dyshormonogenesis 5 (C562771)
..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..Thyrotropin-Releasing Hormone Resistance, Generalized (C566049)
..Zadik Barak Levin syndrome (C536721)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3615

Name:

Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia

Definition:

Alternative IDs:

ParentIDs:

MESH:D002925|MESH:D004476|MESH:D007007|MESH:D007037

TreeNumbers:

C08.200/C565604 |C09.150/C565604 |C16.131.077.350/C565604 |C16.131.831.350/C565604 |C16.320.850.250/C565604 |C17.800.804.350/C565604 |C17.800.827.250/C565604 |C17.800.946.370/C565604 |C19.874.482/C565604

Synonyms:

Slim Mappings:

Reference:

MedGen: C565604
MeSH: C565604
OMIM: 225050;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0005938	Abnormal respiratory motile cilium morphology
3	HP:0001000	Abnormality of skin pigmentation
4	HP:0012265	Ciliary dyskinesia
5	HP:0007607	Hypohidrotic ectodermal dysplasia
6	HP:0002164	Nail dysplasia
7	HP:0000832	Primary hypothyroidism
8	HP:0002719	Recurrent infections
9	HP:0000535	Sparse and thin eyebrow
10	HP:0002209	Sparse scalp hair
11	HP:0001025	Urticaria

Disease Causing ClinVar Variants