PedAM

Pediatric Disease Annotations & Medicines


	homozygous familial hypercholesterolemia

Disease ID	1672
Disease	homozygous familial hypercholesterolemia
UMLS	C0342881
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0003499 \| supravalvular aortic stenosis \| 2 C0003507 \| aortic stenosis \| 2 C0003507 \| valvular aortic stenosis \| 2 C0003486 \| aortic aneurysm \| 1 C0162871 \| abdominal aortic aneurysm \| 1 C0026269 \| mitral stenosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) APOB \| 338 \| ORPHANET PCSK9 \| 255738 \| ORPHANET LDLR \| 3949 \| ORPHANET LDLRAP1 \| 26119 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:4) PCSK9 \| 1p32.3 APOB \| 2p24.1 LDLR \| 19p13.2 LDLRAP1 \| 1p36.11

Disease ID	1672
Disease	homozygous familial hypercholesterolemia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:33) HP:0003077 \| Hyperlipidemia HP:0100261 \| Abnormal tendon morphology HP:0002829 \| Arthralgia HP:0000799 \| Renal steatosis HP:0003141 \| Hyperbetalipoproteinemia HP:0004929 \| Coronary atherosclerosis HP:0004381 \| Supravalvular aortic stenosis HP:0007201 \| Cerebral artery atherosclerosis HP:0012638 \| Abnormality of nervous system physiology HP:0000822 \| Hypertension HP:0010874 \| Tendon xanthomatosis HP:0005162 \| Left ventricular failure HP:0005181 \| Premature coronary artery disease HP:0002094 \| Dyspnea HP:0003124 \| Hypercholesterolemia HP:0004928 \| Peripheral arterial stenosis HP:0001645 \| Sudden cardiac death HP:0001397 \| Hepatic steatosis HP:0005177 \| Premature arteriosclerosis HP:0030148 \| Heart murmur HP:0001138 \| Optic neuropathy HP:0000991 \| Xanthomatosis HP:0012397 \| Aortic atherosclerosis HP:0004963 \| Calcification of the aorta HP:0001920 \| Renal artery stenosis HP:0001653 \| Mitral regurgitation HP:0001658 \| Myocardial infarction HP:3000062 \| Abnormality of internal carotid artery HP:0004416 \| Precocious atherosclerosis HP:0030882 \| Coronary artery dilation HP:0006693 \| Myocardial steatosis HP:0001681 \| Angina pectoris HP:0012373 \| Abnormal eye physiology
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0004381 \| Supravalvular aortic stenosis \| 2 HP:0001650 \| Valvular aortic stenosis \| 2 HP:0001031 \| Subcutaneous lipoma \| 1 HP:0004953 \| Abdominal aortic aneurysm \| 1 HP:0004942 \| Aortic aneurysm \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0001695 \| Cardiac arrest \| 1 HP:0001718 \| Mitral stenosis \| 1

Disease ID	1672
Disease	homozygous familial hypercholesterolemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:15) C2632116 \| stenosis C1956346 \| coronary artery disease C1555754 \| cardiovascular disease C1546654 \| granuloma C1313980 \| ischemic heart disease C1304249 \| cutaneous xanthoma C0302314 \| xanthomas C0242339 \| dyslipidemia C0155733 \| aortic atherosclerosis C0027709 \| nephrocalcinosis C0010054 \| coronary atherosclerosis C0010054 \| coronary artery atherosclerosis C0004153 \| atherosclerosis C0003864 \| arthritis C0003507 \| valvular aortic stenosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0009814 \| stenosis \| 3 C0302314 \| xanthomas \| 2 C0003507 \| valvular aortic stenosis \| 2

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

All Snps(Total Genotypes:0)
(Waiting for update.)

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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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