MCID: CNG263
MIFTS: 14

Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs

Categories: Endocrine diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Summaries for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

MalaCards based summary : Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs Affiliated tissues include heart, thyroid and skin, and related phenotypes are congenital hypothyroidism and primary hypothyroidism

Related Diseases for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Symptoms & Phenotypes for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Human phenotypes related to Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital hypothyroidism 58 31 obligate (100%) Obligate (100%) HP:0000851
2 primary hypothyroidism 58 31 obligate (100%) Obligate (100%) HP:0000832
3 sleep disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0002360
4 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
5 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
6 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
9 hoarse cry 58 31 frequent (33%) Frequent (79-30%) HP:0001615
10 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
11 palpebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0100540
12 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
13 large fontanelles 58 31 frequent (33%) Frequent (79-30%) HP:0000239
14 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
15 prolonged neonatal jaundice 58 31 frequent (33%) Frequent (79-30%) HP:0006579
16 delayed epiphyseal ossification 58 31 frequent (33%) Frequent (79-30%) HP:0002663
17 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
18 hypothermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002045
19 hypotension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002615
20 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
21 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
22 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
23 dry skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000958
24 abnormal pericardium morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001697
25 goiter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000853
26 intestinal obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005214
27 abnormality of epiphysis morphology 58 Occasional (29-5%)
28 edema 58 Occasional (29-5%)
29 congenital malformation of the left heart 58 Excluded (0%)

Drugs & Therapeutics for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Search Clinical Trials , NIH Clinical Center for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs

Genetic Tests for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Anatomical Context for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

MalaCards organs/tissues related to Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs:

40
Heart, Thyroid, Skin

Publications for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Variations for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Expression for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Search GEO for disease gene expression data for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs.

Pathways for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

GO Terms for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

Sources for Congenital Hypothyroidism Due to Maternal Intake of Antithyroid...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
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57 OMIM via Orphanet
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68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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