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encyclopedia of Rare Disease Annotation for Precision Medicine

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	growth hormone deficiency

Disease ID	1245
Disease	growth hormone deficiency
Definition	Abnormally low levels of circulating somatotropin.
Synonym	deficiency growth hormone ghd ghd - growth hormone deficiency growth hormone deficiency (disorder) growth hormone deficiency, nos growth hormone insufficiency growth hormones insufficiency hormone growth deficiency somatotropin deficiency somatotropin deficiency (disorder) somatotropin deficiency, nos sth deficiency
UMLS	C0271561
SNOMED-CT	SNOMEDCT_US_2016_09_01:397827003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:30) C0020635 \| hypopituitarism \| 3 C0020598 \| hypoglycemia \| 2 C0271623 \| hypogonadotrophic hypogonadism \| 1 C0751651 \| mitochondrial disease \| 1 C0023895 \| liver disease \| 1 C0020635 \| pituitary insufficiency \| 1 C0018801 \| heart failure \| 1 C0265962 \| netherton syndrome \| 1 C0238402 \| pycnodysostosis \| 1 C0041408 \| turner syndrome \| 1 C0264716 \| chronic heart failure \| 1 C0006840 \| candidiasis \| 1 C0221026 \| x-linked agammaglobulinemia \| 1 C0013421 \| dystonia \| 1 C0268450 \| gitelman syndrome \| 1 C0221406 \| cushing's disease \| 1 C0004775 \| bartter syndrome \| 1 C0004135 \| ataxia telangiectasia \| 1 C0012236 \| 22q11.2 deletion syndrome \| 1 C0175693 \| silver-russell syndrome \| 1 C1275081 \| cardio-facio-cutaneous syndrome \| 1 C0917713 \| becker muscular dystrophy \| 1 C0022596 \| palmoplantar keratoderma \| 1 C0677607 \| hashimoto's thyroiditis \| 1 C0342388 \| adrenocorticotropic hormone deficiency \| 1 C0004134 \| ataxia \| 1 C0026850 \| muscular dystrophy \| 1 C0035934 \| rubinstein-taybi syndrome \| 1 C0001768 \| agammaglobulinemia \| 1 C0031090 \| periodontal disease \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2690 \| GHR \| CIPHER
Text Mined Gene	(Waiting for update.)
Locus	(Waiting for update.)

Disease ID	1245
Disease	growth hormone deficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:29) HP:0004322 \| Stature below 3rd percentile \| 15 HP:0001510 \| Growth deficiency \| 5 HP:0040075 \| Hypopituitarism \| 4 HP:0000855 \| Insulin resistance \| 3 HP:0001943 \| Hypoglycemia \| 2 HP:0011755 \| Ectopic posterior pituitary \| 1 HP:0004349 \| Reduced bone mineral density \| 1 HP:0011748 \| Adrenocorticotropic hormone deficiency \| 1 HP:0000044 \| Hypogonadotrophic hypogonadism \| 1 HP:0012342 \| Macroprolactinoma \| 1 HP:0003560 \| Muscular dystrophy \| 1 HP:0100842 \| Septo-optic dysplasia \| 1 HP:0001988 \| hypoglycemia, recurrent \| 1 HP:0012734 \| Ketotic hypoglycemia \| 1 HP:0001252 \| Hypotonia \| 1 HP:0000089 \| Small kidneys \| 1 HP:0001251 \| Ataxia \| 1 HP:0000612 \| Iris coloboma \| 1 HP:0008244 \| Congenital adrenal gland hypoplasia \| 1 HP:0002750 \| Delayed bone maturation \| 1 HP:0000871 \| Panhypopituitarism \| 1 HP:0004432 \| Agammaglobulinaemia \| 1 HP:0007099 \| Arnold Chiari type I malformation \| 1 HP:0001332 \| Dystonia \| 1 HP:0200055 \| Small hand \| 1 HP:0000835 \| Hypoplastic adrenal glands \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0000872 \| Hashimoto's thyroiditis \| 1 HP:0000982 \| Palmoplantar keratoderma \| 1

Disease ID	1245
Disease	growth hormone deficiency
Manually Symptom	UMLS \| Name(Total Manually Symptoms:28) C2108077 \| atrioventricular block C1522133 \| hypercholesterolemia C1416765 \| kearns-sayre syndrome C0878787 \| growth failure C0856169 \| endothelial dysfunction C0399440 \| hereditary gingival fibromatosis C0272170 \| schwachman-diamond syndrome C0271708 \| fasting hypoglycemia C0271583 \| isolated adrenocorticotropic hormone deficiency C0265240 \| goldenhar syndrome C0205969 \| malignant thymoma C0162538 \| iga deficiency C0041408 \| turner's syndrome C0034013 \| precocious puberty C0032357 \| poland's syndrome C0029408 \| osteoarthritis C0026709 \| maroteaux-lamy syndrome C0026709 \| maroteaux-lamy disease C0025237 \| melnick-needles syndrome C0025164 \| megaesophagus C0021051 \| immunodeficiency C0020635 \| hypopituitarism C0020615 \| hypoglycemia C0018552 \| hamartoma C0017097 \| gardner's syndrome C0013264 \| benign duchenne muscular dystrophy C0007193 \| dilated cardiomyopathy C0004153 \| atherosclerosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0020635 \| hypopituitarism \| 4 C0878787 \| growth failure \| 3 C0020598 \| hypoglycemia \| 2 C0856169 \| endothelial dysfunction \| 2

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs2291340	25157616	6557	SLC12A1	umls:C0271561	BeFree	At baseline, after adjustment for sex and BMI, SNP rs2291340 in the SLC12A1 gene was associated with ECW volume in GHD patients (p = 0.039).	0.000271442	2014	SLC12A1	15	48255779	T	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1245
Disease	growth hormone deficiency
Case	(Waiting for update.)

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