MCID: CNG263
MIFTS: 17

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 skin, heart and thyroid, and related phenotypes are macrocephaly and constipation

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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
3 hypothermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002045
4 sleep disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0002360
5 hypotension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002615
6 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
7 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
8 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
9 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
10 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
11 hoarse cry 59 32 frequent (33%) Frequent (79-30%) HP:0001615
12 dry skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000958
13 reduced tendon reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001315
14 goiter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000853
15 intestinal obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005214
16 palpebral edema 59 32 frequent (33%) Frequent (79-30%) HP:0100540
17 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
18 large fontanelles 59 32 frequent (33%) Frequent (79-30%) HP:0000239
19 lethargy 59 32 frequent (33%) Frequent (79-30%) HP:0001254
20 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
21 prolonged neonatal jaundice 59 32 frequent (33%) Frequent (79-30%) HP:0006579
22 generalized hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001290
23 abnormal pericardium morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001697
24 congenital hypothyroidism 59 32 obligate (100%) Obligate (100%) HP:0000851
25 delayed epiphyseal ossification 59 32 frequent (33%) Frequent (79-30%) HP:0002663
26 primary hypothyroidism 59 32 obligate (100%) Obligate (100%) HP:0000832
27 abnormality of epiphysis morphology 59 Occasional (29-5%)
28 edema 59 Occasional (29-5%)
29 congenital malformation of the left heart 59 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:

41
Skin, Heart, Thyroid

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....