eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| congenital hypothyroidism | ||||
| Disease ID | 135 |
|---|---|
| Disease | congenital hypothyroidism |
| Definition | condition due to congenital lack of thyroid hormone, marked by arrested physical and mental development, dystrophy of the bones and soft parts, and lowered basal metabolism; it is the congenital form of thyroid deficiency, while myxedema is the acquired form. |
| Synonym | cht - congenital hypothyroidism congen hypothyroidism congenital goiter congenital goitre congenital hypothyroidism (disorder) congenital hypothyroidism [disease/finding] congenital hypothyroidism nos congenital hypothyroidism nos (disorder) congenital hypothyroidism not due to iodine deficiency congenital hypothyroidism: [cretinism] or [nos] congenital hypothyroidism: [cretinism] or [nos] (disorder) congenital hypothyroidsm congenital thyroid insufficiency cretinism cretinism (disorder) cretinism (disorder) [ambiguous] cretinism, infantile cretinism, nos goitrous cretinism hypothyroidism congenital hypothyroidism, congenital hypothyroidism, infantile infantile hypothyroidism |
| Orphanet | |
| DOID | |
| UMLS | C0010308 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:28) C0018021 | goiter | 6 C0020676 | hypothyroidism | 4 C0549473 | thyroid carcinoma | 3 C0007115 | thyroid ca | 3 C0025362 | mental retardation | 2 C1263846 | attention deficit hyperactivity disorder | 1 C0342199 | iodine deficiency | 1 C0175702 | williams syndrome | 1 C0019284 | diaphragmatic hernia | 1 C0018799 | heart disease | 1 C0019569 | hirschsprung's disease | 1 C0008925 | cleft palate | 1 C0011847 | diabetes | 1 C0028754 | obesity | 1 C0040137 | thyroid nodules | 1 C0014850 | esophageal atresia | 1 C0152021 | congenital heart disease | 1 C1145670 | respiratory failure | 1 C0342208 | multinodular goiter | 1 C0018799 | cardiac disease | 1 C0020550 | hyperthyroidism | 1 C1258215 | ileus | 1 C0007570 | coeliac disease | 1 C0020555 | hypertrichosis | 1 C0018023 | nodular goiter | 1 C0265246 | townes-brocks syndrome | 1 C0266463 | lissencephaly | 1 C0040137 | thyroid nodule | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:16) 7038 | TG | UniProtKB-KW;GHR 50506 | DUOX2 | CTD_human;GHR;UNIPROT;UniProtKB-KW 1482 | NKX2-5 | UniProtKB-KW 6528 | SLC5A5 | GHR;UNIPROT;UniProtKB-KW 7067 | THRA | UniProtKB-KW 7253 | TSHR | CTD_human;GHR;UNIPROT;UniProtKB-KW 2304 | FOXE1 | UniProtKB-KW 7173 | TPO | CTD_human;GHR;UNIPROT;UniProtKB-KW 7200 | TRH | UNIPROT 169792 | GLIS3 | UniProtKB-KW 3547 | IGSF1 | CTD_human;UniProtKB-KW 405753 | DUOXA2 | UniProtKB-KW;UNIPROT 7849 | PAX8 | GHR;UNIPROT;UniProtKB-KW 389434 | IYD | UniProtKB-KW;UNIPROT 7252 | TSHB | GHR;UNIPROT 7080 | NKX2-1 | UniProtKB-KW;UNIPROT |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:55) 174 | AFP | 1.463 | DISEASES 309 | ANXA6 | 1.169 | DISEASES 10092 | ARPC5 | 3.426 | DISEASES 9774 | BCLAF1 | 1.586 | DISEASES 796 | CALCA | 2.007 | DISEASES 26586 | CKAP2 | 4.025 | DISEASES 51428 | DDX41 | 1.49 | DISEASES 1734 | DIO2 | 3.233 | DISEASES 50506 | DUOX2 | 6.214 | DISEASES 377841 | ENTPD8 | 1.969 | DISEASES 80712 | ESX1 | 2.816 | DISEASES 2274 | FHL2 | 1.411 | DISEASES 2304 | FOXE1 | 7.603 | DISEASES 169792 | GLIS3 | 4.735 | DISEASES 2778 | GNAS | 3.505 | DISEASES 160897 | GPR180 | 1.298 | DISEASES 3105 | HLA-A | 1.357 | DISEASES 3214 | HOXB4 | 1.387 | DISEASES 3486 | IGFBP3 | 1.924 | DISEASES 3547 | IGSF1 | 4.161 | DISEASES 8022 | LHX3 | 2.622 | DISEASES 51562 | MBIP | 2.719 | DISEASES 4689 | NCF4 | 1.127 | DISEASES 10725 | NFAT5 | 1.072 | DISEASES 25983 | NGDN | 1.149 | DISEASES 7080 | NKX2-1 | 5.403 | DISEASES 1482 | NKX2-5 | 4.421 | DISEASES 54413 | NLGN3 | 2.316 | DISEASES 22854 | NTNG1 | 1.992 | DISEASES 84628 | NTNG2 | 1.885 | DISEASES 5053 | PAH | 1.629 | DISEASES 7849 | PAX8 | 6.225 | DISEASES 5449 | POU1F1 | 4.287 | DISEASES 5456 | POU3F4 | 1.015 | DISEASES 51334 | PRR16 | 1.394 | DISEASES 1104 | RCC1 | 1.209 | DISEASES 256987 | SERINC5 | 2.307 | DISEASES 6906 | SERPINA7 | 5.181 | DISEASES 253970 | SFTA3 | 2.093 | DISEASES 6439 | SFTPB | 2.051 | DISEASES 117247 | SLC16A10 | 2.24 | DISEASES 160728 | SLC5A8 | 1.253 | DISEASES 53919 | SLCO1C1 | 1.477 | DISEASES 50485 | SMARCAL1 | 1.206 | DISEASES 6658 | SOX3 | 1.103 | DISEASES 10617 | STAMBP | 3.035 | DISEASES 51347 | TAOK3 | 1.2 | DISEASES 6899 | TBX1 | 2.117 | DISEASES 284486 | THEM5 | 1.27 | DISEASES 7068 | THRB | 2.653 | DISEASES 140803 | TRPM6 | 1.136 | DISEASES 10587 | TXNRD2 | 1.598 | DISEASES 11169 | WDHD1 | 1.427 | DISEASES 26137 | ZBTB20 | 1.546 | DISEASES 6935 | ZEB1 | 1.788 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 135 |
|---|---|
| Disease | congenital hypothyroidism |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:21) C2681938 | beckwith-wiedemann syndrome C2203646 | jaundice C1839141 | thyroxine-binding globulin deficiency C1563716 | thyroid dysgenesis C1384666 | hearing impairment C1253937 | pericardial effusion C0877169 | neonatal hyponatremia C0859974 | neonatal intestinal obstruction C0796095 | c syndrome C0599750 | hormone deficiency C0581883 | deafness C0342199 | iodine deficiency C0342194 | iodotyrosyl coupling defect C0040128 | thyroid disorders C0025362 | mental retardation C0020625 | hyponatremia C0020565 | macromastia C0020514 | hyperprolactinaemia C0007570 | celiac disease C0004245 | atrioventricular heart block C0001430 | adenoma |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0025362 | mental retardation | 3 C1563716 | thyroid dysgenesis | 2 C0599750 | hormone deficiency | 1 C1384666 | hearing impairment | 1 C0238421 | selenium deficiency | 1 C0020550 | hyperthyroidism | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:19) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893656 | 11502839 | 7849 | PAX8 | umls:C0010308 | BeFree | A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. | 0.013430135 | 2001 | PAX8;PAX8-AS1 | 2 | 113246826 | T | G |
| rs119472026 | 24127536 | 50506 | DUOX2 | umls:C0010308 | BeFree | A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism. | 0.131420422 | 2013 | DUOX2 | 15 | 45108887 | G | A |
| rs121908866 | 12629076 | 7253 | TSHR | umls:C0010308 | BeFree | In conclusion, CH in the siblings is due to the missense mutation, W546X, in their TSHR gene. | 0.138054579 | 2003 | TSHR;LOC101928462 | 14 | 81143695 | G | A |
| rs121917893 | 20615874 | 7038 | TG | umls:C0010308 | BeFree | By incorporating the R451C mutation found in neuroligin (NLGN) and associated with autism and the thyroglobulin G2320R (G221R in NLGN) mutation responsible for congenital hypothyroidism into NLGN3, we show that mutations in the alpha/beta-hydrolase fold domain influence folding and biosynthetic processing of neuroligin3 as determined by in vitro susceptibility to proteases, glycosylation processing, turnover, and processing rates. | 0.020920887 | 2010 | NLGN3 | X | 71167508 | C | T |
| rs121917893 | 20615874 | 54413 | NLGN3 | umls:C0010308 | BeFree | By incorporating the R451C mutation found in neuroligin (NLGN) and associated with autism and the thyroglobulin G2320R (G221R in NLGN) mutation responsible for congenital hypothyroidism into NLGN3, we show that mutations in the alpha/beta-hydrolase fold domain influence folding and biosynthetic processing of neuroligin3 as determined by in vitro susceptibility to proteases, glycosylation processing, turnover, and processing rates. | 0.000271442 | 2010 | NLGN3 | X | 71167508 | C | T |
| rs189261858 | 25928756 | 7253 | TSHR | umls:C0010308 | BeFree | He needed levothyroxine (l-T4) replacement therapy to keep serum TSH levels within normal limits; l-T4 dose of 2.01-2.65 μg/kg/day corresponded to the dose taken by children homozygous for R450H-TSHR and by children with permanent congenital hypothyroidism. | 0.138054579 | 2014 | TSHR;LOC101928462 | 14 | 81143407 | G | A |
| rs189261858 | 21714469 | 7253 | TSHR | umls:C0010308 | BeFree | The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism. | 0.138054579 | 2010 | TSHR;LOC101928462 | 14 | 81143407 | G | A |
| rs1991517 | 21714469 | 7253 | TSHR | umls:C0010308 | BeFree | The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism. | 0.138054579 | 2010 | TSHR;LOC101928462 | 14 | 81144239 | G | C |
| rs1991517 | 21714466 | 7253 | TSHR | umls:C0010308 | BeFree | High frequency of D727E polymorphisms in exon 10 of the TSHR gene in Brazilian patients with congenital hypothyroidism. | 0.138054579 | 2010 | TSHR;LOC101928462 | 14 | 81144239 | G | C |
| rs2076738 | 10199792 | 7038 | TG | umls:C0010308 | BeFree | Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter. | 0.020920887 | 1999 | TG | 8 | 132906843 | T | C |
| rs2076738 | 15171721 | 7038 | TG | umls:C0010308 | BeFree | We have studied UPR development in two similar ERSDs, human congenital goiter caused by the C1264R and C1996S mutations in the thyroglobulin (Tg) gene and non-goitrous congenital hypothyroidism in rdw dwarf rats determined by the G2320R Tg mutation. | 0.020920887 | 2004 | TG | 8 | 132906843 | T | C |
| rs2076738 | 9790265 | 7038 | TG | umls:C0010308 | BeFree | Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport. | 0.020920887 | 1998 | TG | 8 | 132906843 | T | C |
| rs2076738 | 10199792 | 7038 | TG | umls:C0349476 | BeFree | Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter. | 0.008143256 | 1999 | TG | 8 | 132906843 | T | C |
| rs2076738 | 9790265 | 7038 | TG | umls:C0349476 | BeFree | Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport. | 0.008143256 | 1998 | TG | 8 | 132906843 | T | C |
| rs2076739 | 10199792 | 7038 | TG | umls:C0349476 | BeFree | Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter. | 0.008143256 | 1999 | TG | 8 | 132971804 | T | A |
| rs2076739 | 10199792 | 7038 | TG | umls:C0010308 | BeFree | Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter. | 0.020920887 | 1999 | TG | 8 | 132971804 | T | A |
| rs2076739 | 15171721 | 7038 | TG | umls:C0010308 | BeFree | We have studied UPR development in two similar ERSDs, human congenital goiter caused by the C1264R and C1996S mutations in the thyroglobulin (Tg) gene and non-goitrous congenital hypothyroidism in rdw dwarf rats determined by the G2320R Tg mutation. | 0.020920887 | 2004 | TG | 8 | 132971804 | T | A |
| rs4774518 | 21367925 | 405753 | DUOXA2 | umls:C0010308 | BeFree | Biallelic loss-of-function mutations of DUOX2 result in congenital hypothyroidism (CH), whereas a single reported case of homozygous DUOXA2 mutation (Y246X) has been associated with mild CH. | 0.001357209 | 2011 | DUOXA1;DUOXA2 | 15 | 45117274 | C | G,T |
| rs4774518 | 21367925 | 50506 | DUOX2 | umls:C0010308 | BeFree | Biallelic loss-of-function mutations of DUOX2 result in congenital hypothyroidism (CH), whereas a single reported case of homozygous DUOXA2 mutation (Y246X) has been associated with mild CH. | 0.131420422 | 2011 | DUOXA1;DUOXA2 | 15 | 45117274 | C | G,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0000830 | Anterior hypopituitarism | MP:0003348 | hypopituitarism | reduction or cessation of secretion of one or more hormones from the anterior pituitary gland; this may result from ablation, tumors, infarction, or other trauma |
| HP:0000492 | Abnormality of the eyelid | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0000457 | Depressed nasal ridge | MP:0004872 | absent nasal septum | absence of the structure that separates the two nasal cavities |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000202 | Oral cleft | MP:0009890 | cleft secondary palate | congenital fissure of the tissues normally uniting to form the secondary palate |
| HP:0000478 | Abnormality of the eye | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0100540 | Palpebral edema | MP:0001786 | skin edema | accumulation of an excessive amount of fluid in the skin layers or just underneath the skin |
| HP:0000820 | Abnormality of the thyroid gland | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0001595 | Abnormality of the hair | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0000504 | Abnormality of vision | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0006579 | Prolonged neonatal jaundice | MP:0011087 | neonatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0) |
| HP:0000280 | Coarse facial features | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0005214 | Intestinal obstruction | MP:0003587 | ureter obstruction | a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic |
| HP:0001537 | Umbilical hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0000080 | Abnormality of reproductive system physiology | MP:0004502 | decreased incidence of tumors by chemical induction | lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0002575 | Tracheoesophageal fistula | MP:0003321 | tracheoesophageal fistula | an abnormal passage is present between the esophagus and the trachea; may be acquired or congenital, and is often associated with esophageal atresia |
| HP:0000271 | Abnormality of the face | MP:0009889 | persistence of medial edge epithelium during palatal shelf fusion | palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam |
Mapped by homologous gene(Total Items:50) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001595 | Abnormality of the hair | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0000820 | Abnormality of the thyroid gland | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0003401 | Paresthesia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000135 | Hypogonadism | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0001615 | Hoarse cry | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000271 | Abnormality of the face | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000239 | Large fontanelles | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001071 | Angiokeratoma corporis diffusum | MP:0011516 | aspartylglucosaminuria | high urinary levels of aspartylglucosamine, a derivative of aspartic acid; caused by deficient activity of the enzyme N-aspartyl-beta-glucosaminidase (aspartylglucosaminidase) which normally cleaves long sugar chains known as oligosaccharides in the lysos |
| HP:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000158 | Macroglossia | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000853 | Goiter | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000457 | Depressed nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005214 | Intestinal obstruction | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002045 | Hypothermia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0003270 | Abdominal distention | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001697 | Abnormality of the pericardium | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000246 | Sinusitis | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0010864 | Intellectual disability, severe | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0008188 | Thyroid dysgenesis | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0100540 | Palpebral edema | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004491 | Large posterior fontanelle | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002575 | Tracheoesophageal fistula | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000458 | Anosmia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000492 | Abnormality of the eyelid | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0006579 | Prolonged neonatal jaundice | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001537 | Umbilical hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000202 | Oral cleft | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000504 | Abnormality of vision | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0002615 | Hypotension | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002019 | Constipation | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000080 | Abnormality of reproductive system physiology | MP:0011160 | dermal-epidermal separation | the appearance of gaps or clefts in the normally continuous junctional interface between the dermis and epidermis |
| HP:0000830 | Anterior hypopituitarism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000648 | Optic atrophy | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001315 | Reduced tendon reflexes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 135 |
|---|---|
| Disease | congenital hypothyroidism |
| Case | (Waiting for update.) |