calcium ion import into sarcoplasmic reticulum


Lewy body core

biolink:CellularComponent biolink:AnatomicalEntity biolink:PhysicalEssence biolink:OrganismalEntity biolink:SubjectOfInvestigation biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent


protein localization to lipid droplet

biolink:BiologicalProcess biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent


cellular response to nerve growth factor stimulus


ribosome-associated ubiquitin-dependent protein catabolic process


biolink:Pathway biolink:OntologyClass biolink:BiologicalProcess biolink:Occurrent biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

B cell receptor apoptotic signaling pathway


intrinsic apoptotic signaling pathway in response to hypoxia


protein localization to site of double-strand break


G protein-coupled receptor catabolic process


histone methyltransferase binding

biolink:MolecularActivity biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent


N6-methyladenosine-containing RNA reader activity


anti-Mullerian hormone receptor signaling pathway


response to transition metal nanoparticle


cellular response to insulin-like growth factor stimulus


gap junction-mediated intercellular transport


lipid transport across blood-brain barrier


calcitonin gene-related peptide receptor signaling pathway


adrenomedullin receptor signaling pathway


replication-born double-strand break repair via sister chromatid exchange


cellular response to brain-derived neurotrophic factor stimulus


response to insulin-like growth factor stimulus


mitotic recombination-dependent replication fork processing


CSL-Notch-Mastermind transcription factor complex


intrinsic apoptotic signaling pathway in response to nitrosative stress


Parkin-FBXW7-Cul1 ubiquitin ligase complex


L-type voltage-gated calcium channel complex


mitochondrion-endoplasmic reticulum membrane tethering


mitotic DNA replication maintenance of fidelity


mitochondrial ATP transmembrane transport


mitochondrial coenzyme A transmembrane transport


I(KACh) inward rectifier potassium channel complex


potassium ion import across plasma membrane


mitochondrial L-ornithine transmembrane transport


3' overhang single-stranded DNA endodeoxyribonuclease activity


mitotic spindle assembly checkpoint MAD1-MAD2 complex


regulation of vascular associated smooth muscle cell membrane depolarization


response to manganese-induced endoplasmic reticulum stress


ubiquitin-like ligase-substrate adaptor activity


small intestine smooth muscle contraction


response to water-immersion restraint stress


negative regulation of hh target transcription factor activity


thyroid gland epithelial cell proliferation


ligand-gated ion channel signaling pathway


basic amino acid transmembrane transport


cellular response to leukemia inhibitory factor


sequence-specific double-stranded DNA binding


vascular associated smooth muscle cell proliferation


double-strand break repair involved in meiotic recombination


mRNA N6-methyladenosine dioxygenase activity


vascular associated smooth muscle cell dedifferentiation


xenobiotic detoxification by transmembrane export across the plasma membrane


xenobiotic transport across blood-brain barrier


positive regulation of DNA damage checkpoint


regulation of protein localization to cell surface


negative regulation of protein localization to cell surface


positive regulation of protein localization to cell surface


regulation of adaxial/abaxial pattern formation


regulation of determination of dorsal identity


negative regulation of male gonad development


positive regulation of male gonad development


regulation of multicellular organismal development


regulation of animal organ morphogenesis


regulation of stem cell population maintenance


negative regulation of double-strand break repair via homologous recombination


regulation of G1/S transition of mitotic cell cycle


regulation of cell-cell adhesion mediated by cadherin


negative regulation of cell-cell adhesion mediated by cadherin


positive regulation of cell-cell adhesion mediated by cadherin


regulation of non-canonical Wnt signaling pathway


positive regulation of non-canonical Wnt signaling pathway


regulation of ubiquitin-dependent protein catabolic process


negative regulation of ubiquitin-dependent protein catabolic process


positive regulation of ubiquitin-dependent protein catabolic process


regulation of cortisol biosynthetic process


negative regulation of cortisol biosynthetic process


positive regulation of cortisol biosynthetic process


regulation of type B pancreatic cell development


negative regulation of type B pancreatic cell development


positive regulation of type B pancreatic cell development


regulation of L-ascorbic acid biosynthetic process


negative regulation of L-ascorbic acid biosynthetic process


regulation of Wnt signaling pathway, planar cell polarity pathway


positive regulation of Wnt signaling pathway, planar cell polarity pathway


regulation of smooth muscle cell-matrix adhesion


negative regulation of smooth muscle cell-matrix adhesion


negative regulation of DNA-templated DNA replication


positive regulation of DNA-templated DNA replication


regulation of leukocyte apoptotic process


negative regulation of leukocyte apoptotic process


positive regulation of leukocyte apoptotic process


regulation of macrophage apoptotic process


negative regulation of macrophage apoptotic process


positive regulation of macrophage apoptotic process


regulation of establishment of cell polarity


regulation of sodium-dependent phosphate transport


positive regulation of sodium-dependent phosphate transport


regulation of removal of superoxide radicals


regulation of endocannabinoid signaling pathway


positive regulation of octopamine signaling pathway


negative regulation of G1/S transition of mitotic cell cycle


regulation of cell proliferation involved in heart morphogenesis


negative regulation of cell proliferation involved in heart morphogenesis


regulation of DNA-templated transcription initiation


negative regulation of DNA-templated transcription initiation


positive regulation of DNA-templated transcription initiation


positive regulation of cilium-dependent cell motility


positive regulation of peptidyl-cysteine S-nitrosylation


regulation of neural precursor cell proliferation


negative regulation of neural precursor cell proliferation


positive regulation of neural precursor cell proliferation


negative regulation of androgen biosynthetic process


negative regulation of blood vessel morphogenesis


regulation of progesterone biosynthetic process


negative regulation of progesterone biosynthetic process


positive regulation of progesterone biosynthetic process


positive regulation of phosphate transmembrane transport


negative regulation of fatty acid transport


positive regulation of fatty acid transport


negative regulation of female gonad development


positive regulation of female gonad development


regulation of ribonucleoprotein complex localization


regulation of glutamate metabolic process


negative regulation of glutamate metabolic process


positive regulation of proline metabolic process


regulation of testosterone biosynthetic process


negative regulation of testosterone biosynthetic process


negative regulation of pancreatic A cell differentiation


negative regulation of reproductive process


positive regulation of reproductive process


regulation of male germ cell proliferation


negative regulation of male germ cell proliferation


positive regulation of male germ cell proliferation


regulation of blood coagulation, common pathway


positive regulation of blood coagulation, common pathway


positive regulation of blood coagulation, extrinsic pathway


positive regulation of blood coagulation, intrinsic pathway


regulation of fibroblast apoptotic process


negative regulation of fibroblast apoptotic process


positive regulation of fibroblast apoptotic process


negative regulation of signaling receptor activity


positive regulation of oxidative phosphorylation uncoupler activity


negative regulation of DNA biosynthetic process


positive regulation of myoblast proliferation


negative regulation of hydrogen peroxide catabolic process


regulation of Rho-dependent protein serine/threonine kinase activity


negative regulation of Rho-dependent protein serine/threonine kinase activity


regulation of synaptic vesicle exocytosis


positive regulation of synaptic vesicle exocytosis


regulation of ceramide biosynthetic process


positive regulation of ceramide biosynthetic process


regulation of tumor necrosis factor (ligand) superfamily member 11 production


positive regulation of tumor necrosis factor (ligand) superfamily member 11 production


regulation of T-helper 17 type immune response


negative regulation of T-helper 17 type immune response


positive regulation of T-helper 17 type immune response


regulation of T-helper 17 cell differentiation


negative regulation of T-helper 17 cell differentiation


positive regulation of T-helper 17 cell differentiation


regulation of nuclear receptor-mediated glucocorticoid signaling pathway


negative regulation of nuclear receptor-mediated glucocorticoid signaling pathway


positive regulation of nuclear receptor-mediated glucocorticoid signaling pathway


regulation of T-helper 17 cell lineage commitment


negative regulation of T-helper 17 cell lineage commitment


positive regulation of T-helper 17 cell lineage commitment


regulation of blood microparticle formation


positive regulation of blood microparticle formation


positive regulation of endothelial microparticle formation


regulation of chemokine (C-X-C motif) ligand 1 production


positive regulation of chemokine (C-X-C motif) ligand 1 production


regulation of chemokine (C-X-C motif) ligand 2 production


negative regulation of chemokine (C-X-C motif) ligand 2 production


positive regulation of chemokine (C-X-C motif) ligand 2 production


positive regulation of acrosome reaction


negative regulation of hepatocyte proliferation


positive regulation of hepatocyte proliferation


regulation of endothelial cell apoptotic process


negative regulation of endothelial cell apoptotic process


positive regulation of endothelial cell apoptotic process


regulation of ovarian follicle development


negative regulation of ovarian follicle development


regulation of clathrin-dependent endocytosis


positive regulation of clathrin-dependent endocytosis


negative regulation of oxygen metabolic process


positive regulation of oxygen metabolic process


regulation of reactive oxygen species metabolic process


negative regulation of reactive oxygen species metabolic process


positive regulation of reactive oxygen species metabolic process


negative regulation of mesoderm development


positive regulation of ovarian follicle development


regulation of antral ovarian follicle growth


positive regulation of antral ovarian follicle growth


negative regulation of neutrophil extravasation


positive regulation of neutrophil extravasation


regulation of lamellipodium morphogenesis


negative regulation of lymphocyte migration


positive regulation of lymphocyte migration


negative regulation of T cell extravasation


positive regulation of T cell extravasation


positive regulation of thymocyte migration


positive regulation of eosinophil migration


positive regulation of eosinophil extravasation


positive regulation of eosinophil chemotaxis


positive regulation of apoptotic cell clearance


negative regulation of monocyte extravasation


positive regulation of monocyte extravasation


regulation of macrophage migration inhibitory factor signaling pathway


positive regulation of macrophage migration inhibitory factor signaling pathway


regulation of CD8-positive, alpha-beta T cell extravasation


regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation


positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation


positive regulation of T-helper 17 cell extravasation


positive regulation of excitatory postsynaptic potential


regulation of glycogen (starch) synthase activity


negative regulation of glycogen (starch) synthase activity


positive regulation of peroxidase activity


regulation of cAMP-dependent protein kinase activity


negative regulation of cAMP-dependent protein kinase activity


positive regulation of cAMP-dependent protein kinase activity


regulation of hepatic stellate cell activation


negative regulation of hepatic stellate cell activation


positive regulation of hepatic stellate cell activation


regulation of natural killer cell chemotaxis


positive regulation of natural killer cell chemotaxis


positive regulation of blood vessel remodeling


negative regulation of dendritic cell chemotaxis


positive regulation of dendritic cell chemotaxis


regulation of CD4-positive, alpha-beta T cell activation


negative regulation of CD4-positive, alpha-beta T cell activation


positive regulation of CD4-positive, alpha-beta T cell activation


negative regulation of T-helper 1 cell activation


positive regulation of T-helper 1 cell activation


positive regulation of myeloid dendritic cell chemotaxis


regulation of entry of bacterium into host cell


negative regulation of entry of bacterium into host cell


positive regulation of B cell chemotaxis


positive regulation of protein geranylgeranylation


regulation of endothelial cell chemotaxis to fibroblast growth factor


negative regulation of endothelial cell chemotaxis to fibroblast growth factor


positive regulation of endothelial cell chemotaxis to fibroblast growth factor


regulation of dendritic cell dendrite assembly


regulation of T-helper 2 cell cytokine production


negative regulation of T-helper 2 cell cytokine production


positive regulation of T-helper 2 cell cytokine production


regulation of T-helper 1 cell cytokine production


negative regulation of T-helper 1 cell cytokine production


positive regulation of T-helper 1 cell cytokine production


regulation of CD4-positive, alpha-beta T cell proliferation


negative regulation of CD4-positive, alpha-beta T cell proliferation


positive regulation of CD4-positive, alpha-beta T cell proliferation


regulation of CD8-positive, alpha-beta T cell proliferation


negative regulation of CD8-positive, alpha-beta T cell proliferation


positive regulation of CD8-positive, alpha-beta T cell proliferation


regulation of T-helper 2 cell activation


positive regulation of T-helper 2 cell activation


positive regulation of DNA biosynthetic process


regulation of metanephric mesenchymal cell migration


positive regulation of metanephric mesenchymal cell migration


regulation of thyroid hormone generation


negative regulation of thyroid hormone generation


positive regulation of thyroid hormone generation


regulation of thyroid-stimulating hormone secretion


negative regulation of thyroid-stimulating hormone secretion


positive regulation of thyroid-stimulating hormone secretion


regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay


negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay


negative regulation of miRNA metabolic process


positive regulation of miRNA metabolic process


negative regulation of primary miRNA processing


positive regulation of primary miRNA processing


positive regulation of miRNA-mediated gene silencing


negative regulation of SREBP signaling pathway


regulation of early endosome to late endosome transport


positive regulation of early endosome to late endosome transport


regulation of receptor catabolic process


positive regulation of receptor catabolic process


negative regulation of stem cell proliferation


positive regulation of stem cell proliferation


regulation of interleukin-1-mediated signaling pathway


negative regulation of interleukin-1-mediated signaling pathway


regulation of dendritic cell apoptotic process


negative regulation of dendritic cell apoptotic process


positive regulation of dendritic cell apoptotic process


positive regulation of motor neuron apoptotic process


regulation of type B pancreatic cell apoptotic process


positive regulation of type B pancreatic cell apoptotic process


regulation of transcription regulatory region DNA binding


positive regulation of transcription regulatory region DNA binding


positive regulation of cellular response to X-ray


regulation of epithelial cell differentiation involved in kidney development


negative regulation of epithelial cell differentiation involved in kidney development


positive regulation of epithelial cell differentiation involved in kidney development


regulation of cardiac muscle cell differentiation


negative regulation of cardiac muscle cell differentiation


positive regulation of cardiac muscle cell differentiation


negative regulation of stem cell differentiation


positive regulation of stem cell differentiation


regulation of mesenchymal stem cell differentiation


negative regulation of mesenchymal stem cell differentiation


negative regulation of defecation rhythm


positive regulation of defecation rhythm


positive regulation of peptidyl-lysine acetylation


positive regulation of cytoplasmic translation


positive regulation of nephron tubule epithelial cell differentiation


negative regulation of cellular senescence


positive regulation of cellular senescence


regulation of double-strand break repair


negative regulation of double-strand break repair


positive regulation of double-strand break repair


regulation of establishment of cell polarity regulating cell shape


positive regulation of autophagosome assembly


cell proliferation involved in heart valve development


regulation of epithelial cell proliferation involved in lung morphogenesis


regulation of synaptic vesicle clustering


regulation of bicellular tight junction assembly


negative regulation of mitotic sister chromatid separation


negative regulation of myoblast proliferation


regulation of nucleotide-excision repair


positive regulation of androgen receptor activity


negative regulation of steroid hormone secretion


positive regulation of steroid hormone secretion


negative regulation of androgen secretion


positive regulation of androgen secretion


negative regulation of androstenedione secretion


positive regulation of androstenedione secretion


negative regulation of dehydroepiandrosterone secretion


positive regulation of dehydroepiandrosterone secretion


negative regulation of testosterone secretion


positive regulation of testosterone secretion


regulation of corticosteroid hormone secretion


positive regulation of corticosteroid hormone secretion


positive regulation of glucocorticoid secretion


negative regulation of corticosterone secretion


positive regulation of corticosterone secretion


regulation of mineralocorticoid secretion


negative regulation of aldosterone secretion


positive regulation of aldosterone secretion


negative regulation of estrogen secretion


positive regulation of estrogen secretion


negative regulation of estradiol secretion


positive regulation of estradiol secretion


positive regulation of estrone secretion


negative regulation of progesterone secretion


positive regulation of progesterone secretion


positive regulation of AMPA receptor activity


negative regulation of detection of glucose


regulation of pro-B cell differentiation


negative regulation of pro-B cell differentiation


negative regulation of forebrain neuron differentiation


regulation of inner ear receptor cell differentiation


negative regulation of inner ear receptor cell differentiation


regulation of ATP citrate synthase activity


positive regulation of ATP citrate synthase activity


negative regulation of behavioral fear response


positive regulation of behavioral fear response


epithelial cell proliferation involved in renal tubule morphogenesis


regulation of skeletal muscle cell differentiation


positive regulation of skeletal muscle cell differentiation


regulation of endothelial cell chemotaxis


negative regulation of endothelial cell chemotaxis


positive regulation of endothelial cell chemotaxis


regulation of double-strand break repair via nonhomologous end joining


positive regulation of double-strand break repair via nonhomologous end joining


regulation of tongue muscle cell differentiation


positive regulation of tongue muscle cell differentiation


negative regulation of cellular response to drug


positive regulation of cellular response to drug


regulation of integrin-mediated signaling pathway


positive regulation of integrin-mediated signaling pathway


regulation of mesenchymal cell apoptotic process


negative regulation of mesenchymal cell apoptotic process


positive regulation of mesenchymal cell apoptotic process


reactive nitrogen species metabolic process


positive regulation of phospholipid transport


negative regulation of ATP biosynthetic process


positive regulation of ATP biosynthetic process


regulation of CD8-positive, alpha-beta T cell activation


positive regulation of CD8-positive, alpha-beta T cell activation


positive regulation of gamma-delta T cell activation involved in immune response


regulation of dendritic cell differentiation


positive regulation of dendritic cell differentiation


negative regulation of osteoclast development


positive regulation of osteoclast development


positive regulation of response to gamma radiation


regulation of apoptotic signaling pathway


negative regulation of apoptotic signaling pathway


positive regulation of apoptotic signaling pathway


regulation of extrinsic apoptotic signaling pathway


negative regulation of extrinsic apoptotic signaling pathway


positive regulation of extrinsic apoptotic signaling pathway


regulation of extrinsic apoptotic signaling pathway in absence of ligand


negative regulation of extrinsic apoptotic signaling pathway in absence of ligand


positive regulation of extrinsic apoptotic signaling pathway in absence of ligand


regulation of intrinsic apoptotic signaling pathway


negative regulation of intrinsic apoptotic signaling pathway


positive regulation of intrinsic apoptotic signaling pathway


negative regulation of phosphatidylcholine biosynthetic process


regulation of ammonia assimilation cycle


positive regulation of ammonia assimilation cycle


negative regulation of chromosome organization


positive regulation of chromosome organization


regulation of store-operated calcium entry


negative regulation of cation channel activity


positive regulation of cation channel activity


regulation of unsaturated fatty acid biosynthetic process


positive regulation of unsaturated fatty acid biosynthetic process


negative regulation of caveolin-mediated endocytosis


positive regulation of caveolin-mediated endocytosis


Neurogenic bladder

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


Increased circulating immunoglobulin concentration


Dextrotransposition of the great arteries


Decreased circulating vitamin B1 concentration


Decreased circulating vitamin E concentration


Disturbance during transitions between sleep and wake states


2-amino-6-chloro-alpha-cyano-3-(ethoxycarbonyl)-4H-1-benzopyran-4-acetic acid ethyl ester


efavirenz, lamivudine, tenofovir disoproxil fumarate drug combination


P-glycoprotein inducer and activator TX5


dicyclomine, doxylamine, pyridoxine drug combination


clopamide, dihydroergotoxine, reserpine drug combination


pseudoephedrine, triprolidine drug combination


brompheniramine, pseudoephedrine drug combination


aluminum hydroxide, magnesium hydroxide, simethicone drug combination


fructus schizandrae, radix ginseng, radix ophiopogonis drug combination


gelatin, glycerin, zinc oxide drug combination


camphor, cedar leaf oil, eucalyptus oil, menthol, myristica oil, terebinth oil, thymol drug combination


benzocaine, butyl aminobenzoate, tetracaine drug combination


methanol extraction residue (MER) tubercle bacillus fraction


brallobarbital, hydroxyzine, secobarbital drug combination


Gramicidin, Neomycin Sulfate, Nystatin, Triamcinolone Acetonide Drug Combination


amitriptyline, perphenazine drug combination


dexamethasone, neomycin, polymyxin B drug combination


aspirin, caffeine, phenacetin drug combination


aspirin, caffeine, salicylamide drug combination


benzathine benzylpenicillin, procaine benzylpenicillin, drug combination


eugenol, zinc oxide dental cavity lining


very low density lipoprotein triglyceride


hydrocortisone, neomycin, polymyxin B drug combination


cyclothiazide, triamterene drug combination


atenolol, chlortalidone drug combinations


aluminium hydroxide, magnesium carbonate drug combination


fluorescein isothiocyanate bovine serum albumin


boric acid, nitrofurazone, procaine drug combination


St. Thomas' Hospital cardioplegic solution


poly(methyl vinyl ether-co-maleic anhydride)


alginic acid, nitrofurazone drug combination


streptococcal group A cell wall carbohydrate


captopril, hydrochlorothiazide drug combination


estradiol benzoate, testosterone propionate drug combination


phenazopyridine, sulfamethoxazole drug combinations


papaverine, phentolamine drug combination


dinitrophenyl-human serum albumin conjugate


zinc deuteroporphyrin IX 2,4-bis(glycol)


caffeine, chlorpheniramine, dihydrocodeine, methylephedrine drug combination


cetylpyridinium chloride, zinc acetate drug combination


ethinyl estradiol, levonorgestrel drug combination


algininic acid, mafenide drug combination


acetaminophen, hydrocodone drug combination


allopurinol, benzbromarone drug combination


isoniazid, pyrazinamide, rifampin drug combination


hydrochlorothiazide, lisinopril drug combination


soluble tachyzoite antigen, Toxoplasma gondii


cisplatin-deoxy(guanosine monophosphate guanosine) adduct


theophylline, salbutamol drug combination


polycyclic aromatic hydrocarbons-DNA adduct


mineral acids, trace elements, water, drug combination


polyethylene glycol-recombinant human megakaryocyte growth and development factor


caffeine, codeine, acetaminophen, propyphenazone drug combination


norgestimate, ethinyl estradiol drug combination


acetaminophen, aspirin, caffeine drug combination


ultra-high molecular weight polyethylene


7-(hydroxyimino)cyclopropan(b)chromen-1a-carbxoylic acid ethyl ester


benzyloxycarbonyl-isoleucyl-glutamyl-threonyl-aspartic acid fluoromethyl ketone


N-3-(3-(3-methoxy-4-oxazol-5-ylphenyl)ureido)benzylcarbamic acid tetrahydrofuran-3-yl ester


3-bromoacetylamino benzoic acid ethyl ester


abacavir, lamivudine, and zidovudine drug combination


estradiol, norethindrone drug combination


1-(4-chlorobenzoyl)-5-methoxy-2-1H-indole-3-acetic acid 3-(nitrooxymethyl)phenyl ester


(N-propargyl-(3R) aminoindan-5-yl)-ethyl methyl carbamate


isoleucyl-glutamyl-threonyl-aspartic acid fluoromethyl ketone


2-methyl-3-(2-((4-nitrooxybutyloxy)carbonyl)vinyl)phenyl ursodeoxycholic acid ester


2-(2-oxo-2-((3,7,11-trimethyl-2,6,10-dodecatrienyl)oxy)aminoethyl)phosphonic acid, (2,2-dimethyl-1-oxopropoxy)methyl ester sodium


telmisartan, hydrochlorothiazide drug combination


6,8-diallyl 5,7-dihydroxy 2-(2-allyl 3-hydroxy 4-methoxyphenyl)1-H benzo(b)pyran-4-one


lipopolysaccharide, Escherichia coli O111 B4


3-(4-(4-((1-(2-chlorophenyl)ethoxy)carbonyl amino)-3-methyl-5-isoxazolyl) benzylsulfanyl) propanoic acid


amlodipine, atorvastatin drug combination


2-(acetyloxy)benzoic acid 6-(nitrooxymethyl)-2-phenylmethyl ester


1,2,3,4,4a,5,10,10a-octahydro-6-methoxy-1-methylbenz(g)quinoline-3-carboxylic acid 4-(4-nitrophenyl)piperazine amide


protein-bound polysaccharide K, Basidiomycetes


indapamide, perindopril drug combination


somatotropin releasing hormone (1-29)amide, N-acetyl-Tyr(1),Arg(2)-


N-(4-(3-((4-fluorophenyl)hydroxymethyl)-4-hydroxyphenoxy)-3,5-dimethylphenyl) malonamic acid sodium


acidic oligosaccharide sugar chain, Echlonia Kurome Okam


APETx2 protein, Anthopleura elegantissima


1-(3-(2-(1-benzothiophen-5-yl) ethoxy) propyl)-3-azetidinol maleate


cis-9, trans-11-conjugated linoleic acid


2,3-dimercaptosuccinic acid monocyclohexyl ester


3beta-(4-chlorophenyl) tropane-2beta-(3-(4'-methylphenyl) isoxazol-5-yl) hydrochloride


dextromethorphan - quinidine combination


diethyl 2-phenyl-2 tellurophenyl vinylphosphonate


1-(methylimino-N-oxy)-6-(2-morpholinoethoxy)-3-phenyl-1H-indene-2-carboxylic acid ethyl ester


gp120 protein, Human immunodeficiency virus 1


amodiaquine, artesunate drug combination


technetium 99m tricarbonyl 4-((2-methoxyphenyl)piperazin-1-yl)dithioformate


2-cyano-3,12-dioxooleana-1,9(11)-dien-28-oic acid ethyl amide


manganese tetrakis-(N-ethyl-2 pyridyl) porphyrin


manganese tetrakis-(N-methyl-2 pyridyl) porphyrin


4(4-(5-nitro-furan-2-ylmethylene)-3,5-dioxo-pyrazolidin-1-yl)-benzoic acid ethyl ester


4-(((4-carboxybutyl) (2- (5-fluoro-2-((4'-(trifluoromethyl) biphenyl-4-yl)methoxy)phenyl)ethyl) amino)methyl)benzoic acid


5(S),6(R)-7-trihydroxyheptanoic acid, methyl ester


2-cyano-3,12-dioxooleana-1,9(11)-dien-28-oic acid methyl amide


Shuangling Fuzheng anticancer preparation


N-(3-aminopropyl)-2-(((3-methylphenyl) methyl)oxy)-N-(2-thienylmethyl)benzamide hydrochloride salt


drospirenone and ethinyl estradiol combination


(R)-2-(3-((benzoxazol-2-yl-d4 (3-(4-methoxyphenoxy-d7)propyl)amino)methyl)phenoxy) butanoic acid


N-ethyl perfluorooctane sulfonamido acetate


4,5-dihydropyrazole-1,5-dicarboxylic acid 1-((4-chlorophenyl)-amide) 5-(2-oxo-2H-(1,3')bipyridinyl-6'-yl)-amide


butaphosphan, cyanocobalamin drug combination


2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester


bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)


3-hydroxylup-20(29)-ene-27,28-dioic acid dimethyl ester


cyclohexyl carbonic acid 3'-carbamoyl-3-yl ester


2-(4-isobutylphenyl)propionic acid 4-(diethoxyphosphoryloxy)butyl ester


phosphoric acid mono-(2-(4-(3,3-dimethylbutyrylamino)-3,5-difluorobenzoylimino)thiazol-3-ylmethyl) ester


Derp2 allergen, Dermatophagoides pteronyssinus


APEKTx1 peptide, Anthopleura elegantissima


octanedioic acid (1-(3-azido-5-azidomethylbenzyl)-1H-pyrazol-4-yl)amide hydroxyamide


17,20-((1-methoxyethylidene)bis(oxy))-3-oxo-19-norpregna-4,20-diene-21-carboxylic acid methyl ester


2,2-dimethyl-3-(4-(naphthalen-2-ylamino)phenyl)-3-(1,2,4)triazol-1-yl-propionic acid methyl ester


Efavirenz, Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination


Buprenorphine, Naloxone Drug Combination


Drug Misuse

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


Polylactic Acid-Polyglycolic Acid Copolymer


Hormones, Hormone Substitutes, and Hormone Antagonists


Pituitary Hormone Release Inhibiting Hormones


Myasthenia Gravis, Autoimmune, Experimental


anemia, hypochromic microcytic with iron overload


muscular dystrophy-dystroglycanopathy, type A


microcephaly, short stature, and impaired glucose metabolism 1


striatal degeneration, autosomal dominant


mature T-cell and NK-cell non-Hodgkin lymphoma


autosomal dominant polycystic liver disease


primary cutaneous T-cell non-Hodgkin lymphoma


myopathy, lactic acidosis, and sideroblastic anemia


agenesis of the corpus callosum with peripheral neuropathy


arrhythmogenic right ventricular dysplasia 13


vitamin K deficiency hemorrhagic disease


respiratory syncytial virus infectious disease


hematopoietic and lymphoid system neoplasm


parasitic ectoparasitic infectious disease


autoimmune disorder of the nervous system


inborn mitochondrial metabolism disorder


monoclonal gammopathy of uncertain significance


atypical chronic myeloid leukemia, BCR-ABL1 negative


autosomal dominant polycystic kidney disease


inborn disorder of amino acid metabolism


myelodysplastic syndrome with single lineage dysplasia


attention deficit hyperactivity disorder, inattentive type


myalgic encephalomeyelitis/chronic fatigue syndrome


congenital disorder of glycosylation type II


epilepsy with generalized tonic-clonic seizures


human T-lymphotropic virus 1 infectious disease


Trichomonas vaginitis urogenital infection


growth hormone-producing pituitary gland adenoma


sinus histiocytosis with massive lymphadenopathy


thyroid gland undifferentiated (anaplastic) carcinoma


congenital nonspherocytic hemolytic anemia


chronic inflammatory demyelinating polyradiculoneuropathy


mixed epithelioid and spindle cell melanoma


nasal cavity and paranasal sinus lethal midline granuloma


Yersinia pseudotuberculosis infectious disease


growth hormone secreting pituitary adenoma 1


severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency


hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism


amyotrophic lateral sclerosis-parkinsonism-dementia complex


frontotemporal dementia and/or amyotrophic lateral sclerosis 1


isolated anhidrosis with normal sweat glands


ankyloblepharon-ectodermal defects-cleft lip/palate syndrome


arrhythmogenic right ventricular dysplasia 1


arteriovenous malformations of the brain


arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome


helicoid peripapillary chorioretinal degeneration


diaphyseal medullary stenosis-bone malignancy syndrome


progressive familial heart block, type 1A


hereditary hypercarotenemia and vitamin A deficiency


self-limited epilepsy with centrotemporal spikes


Klippel-Feil syndrome 1, autosomal dominant


uveal coloboma-cleft lip and palate-intellectual disability


posterior polymorphous corneal dystrophy 1


idiopathic spontaneous coronary artery dissection


craniometaphyseal dysplasia, autosomal dominant


mitochondrial complex III deficiency nuclear type 1


autosomal dominant deafness - onychodystrophy syndrome


autosomal dominant nonsyndromic hearing loss 1


congenital unilateral hypoplasia of depressor anguli oris


maturity-onset diabetes of the young type 1


maturity-onset diabetes of the young type 2


early-onset generalized limb-onset dystonia


ectopia lentis 1, isolated, autosomal dominant


Ehlers-Danlos syndrome, arthrochalasia type


Ehlers-Danlos syndrome, spondylodysplastic type


Ehlers-Danlos syndrome, periodontitis type


transient bullous dermolysis of the newborn


generalized dominant dystrophic epidermolysis bullosa


pretibial dystrophic epidermolysis bullosa


epidermolysis bullosa simplex 5A, Ogna type


epidermolysis bullosa simplex 2F, with mottled pigmentation


epidermolysis bullosa with congenital localized absence of skin and deformity of nails


multiple epiphyseal dysplasia, Beighton type


primary familial polycythemia due to EPO receptor mutation


TNF receptor 1-associated periodic fever syndrome


spondyloepiphyseal dysplasia with congenital joint dislocations


cholesterol-ester transfer protein deficiency


hyperlipidemia, familial combined, LPL related


hyperpigmentation with or without hypopigmentation, familial progressive


malignant hyperthermia, susceptibility to, 1


selective pituitary resistance to thyroid hormone


hypogonadotropic hypogonadism 7 with or without anosmia


solitary median maxillary central incisor syndrome


palmoplantar keratoderma-esophageal carcinoma syndrome


palmoplantar keratoderma i, striate, focal, or diffuse


Noonan syndrome with multiple lentigines


microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability


Bernard-Soulier syndrome, type A2, autosomal dominant


benign concentric annular macular dystrophy


intellectual disability, autosomal dominant 1


metaphyseal chondrodysplasia, Jansen type


migraine with or without aura, susceptibility to, 1


autosomal dominant progressive external ophthalmoplegia


neuronopathy, distal hereditary motor, type 7A


neuronopathy, distal hereditary motor, type 2A


facioscapulohumeral muscular dystrophy 1


facioscapulohumeral muscular dystrophy 2


spinal muscular atrophy-progressive myoclonic epilepsy syndrome


congenital myopathy 2a, typical, autosomal dominant


familial juvenile hyperuricemic nephropathy type 1


neuropathy, hereditary sensory and autonomic, type 1A


hereditary neuropathy with liability to pressure palsies


congenital stationary night blindness autosomal dominant 2


sick sinus syndrome 2, autosomal dominant


multicentric carpo-tarsal osteolysis with or without nephropathy


inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1


parietal foramina with cleidocranial dysplasia


pigmented paravenous retinochoroidal atrophy


isolated growth hormone deficiency type II


autosomal dominant medullary cystic kidney disease with or without hyperuricemia


brain small vessel disease 1 with or without ocular anomalies


porokeratosis 3, disseminated superficial actinic type


contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A


pulmonary edema of mountaineers, susceptibility to


neurogenic scapuloperoneal syndrome, Kaeser type


scapuloperoneal spinal muscular atrophy, autosomal dominant


congenital myopathy 7A, myosin storage, autosomal dominant


scoliosis, isolated, susceptibility to, 1


adult-onset proximal spinal muscular atrophy, autosomal dominant


spondyloepimetaphyseal dysplasia, Maroteaux type


spondyloepimetaphyseal dysplasia, Strudwick type


spondylometaphyseal dysplasia, Kozlowski type


otospondylomegaepiphyseal dysplasia, autosomal dominant


thrombophilia due to activated protein C resistance


thyroid hormone resistance, generalized, autosomal dominant


thyrotoxic periodic paralysis, susceptibility to, 1


retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations


autosomal dominant hypophosphatemic rickets


acromesomelic dysplasia 2C, Hunter-Thompson type


congenital isolated adrenocorticotropic hormone deficiency


medium chain acyl-CoA dehydrogenase deficiency


short chain acyl-CoA dehydrogenase deficiency


very long chain acyl-CoA dehydrogenase deficiency


adducted thumbs-arthrogryposis syndrome, Christian type


congenital lipoid adrenal hyperplasia due to STAR deficency


Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis


congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency


congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency


congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency


corticosterone methyloxidase type 1 deficiency


amyotrophic lateral sclerosis type 2, juvenile


aniridia-cerebellar ataxia-intellectual disability syndrome


arthrogryposis multiplex congenita 2, neurogenic type


progressive pseudorheumatoid arthropathy of childhood


asthma, nasal polyps, and aspirin intolerance


ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia


3-methylcrotonyl-CoA carboxylase 1 deficiency


3-methylcrotonyl-CoA carboxylase 2 deficiency


Bietti crystalline corneoretinal dystrophy


microcephalic osteodysplastic primordial dwarfism type I


microcephalic osteodysplastic primordial dwarfism type II


bronchiectasis with or without elevated sweat chloride 1


progressive familial intrahepatic cholestasis type 1


hereditary arterial and articular multiple calcification syndrome


predisposition to invasive fungal disease due to CARD9 deficiency


PMM2-congenital disorder of glycosylation


MGAT2-congenital disorder of glycosylation


systemic primary carnitine deficiency disease


colobomatous optic disc-macular atrophy-chorioretinopathy syndrome


autosomal recessive spinocerebellar ataxia 2


peroxisome biogenesis disorder 2A (Zellweger)


Klippel-Feil syndrome 2, autosomal recessive


congenital secretory chloride diarrhea 1


rhizomelic chondrodysplasia punctata type 1


heart defect - tongue hamartoma - polysyndactyly syndrome


corneal dystrophy-perceptive deafness syndrome


congenital hereditary endothelial dystrophy of cornea


craniometaphyseal dysplasia, autosomal recessive


Cushing syndrome due to macronodular adrenal hyperplasia


cutis laxa, autosomal recessive, type 1A


autosomal recessive cutis laxa type 2, classic type


cutis marmorata telangiectatica congenita


congenital lactic acidosis, Saguenay-Lac-Saint-Jean type


autosomal recessive nonsyndromic hearing loss 1A


split hand-foot malformation 1 with sensorineural hearing loss


high myopia-sensorineural deafness syndrome


hearing loss, sensorineural, autosomal-mitochondrial type


non-acquired combined pituitary hormone deficiency with spine abnormalities


polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly


persistent hyperplastic primary vitreous, autosomal recessive


rhizomelic chondrodysplasia punctata type 2


hemolytic anemia due to diphosphoglycerate mutase deficiency


cerebellar ataxia, intellectual disability, and dysequilibrium


Silverman-Handmaker type dyssegmental dysplasia


cleft lip/palate-ectodermal dysplasia syndrome


ectopia lentis 2, isolated, autosomal recessive


hypothyroidism, congenital, nongoitrous, 5


Ehlers-Danlos syndrome, cardiac valvular type


Ehlers-Danlos syndrome, dermatosparaxis type


congenital enteropathy due to enteropeptidase deficiency


junctional epidermolysis bullosa, non-Herlitz type


epidermolysis bullosa simplex 5B, with muscular dystrophy


junctional epidermolysis bullosa with pyloric atresia


factor V and factor VIII, combined deficiency of, type 1


hypogonadotropic hypogonadism 23 with or without anosmia


hypogonadotropic hypogonadism 24 without anosmia


Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome


multiple acyl-CoA dehydrogenase deficiency


glutathione synthetase deficiency without 5-oxoprolinuria


glycogen storage disease due to glucose-6-phosphatase deficiency type IA


glycogen storage disease due to glycogen branching enzyme deficiency


anti-glomerular basement membrane disease


combined immunodeficiency with skin granulomas


granulomatous disease, chronic, autosomal recessive, cytochrome b-negative


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2


hepatic veno-occlusive disease-immunodeficiency syndrome


non-spherocytic hemolytic anemia due to hexokinase deficiency


homocystinuria due to methylene tetrahydrofolate reductase deficiency


encephalopathy due to hydroxykynureninuria


carbamoyl phosphate synthetase I deficiency disease


hyperammonemia due to N-acetylglutamate synthase deficiency


transient familial neonatal hyperbilirubinemia


neonatal severe primary hyperparathyroidism


glycogen storage disorder due to hepatic glycogen synthase deficiency


hypoinsulinemic hypoglycemia and body hemihypertrophy


hypophosphatemic rickets, autosomal recessive, 1


hereditary hypophosphatemic rickets with hypercalciuria


congenital hypothalamic hamartoma syndrome


autosomal recessive congenital ichthyosis 4B


immunodeficiency-centromeric instability-facial anomalies syndrome 1


channelopathy-associated congenital insensitivity to pain, autosomal recessive


oculocerebrofacial syndrome, Kaufman type


autosomal recessive Kenny-Caffey syndrome


succinyl-CoA:3-ketoacid CoA transferase deficiency


metabolic myopathy due to lactate transporter defect


pyruvate dehydrogenase E3-binding protein deficiency


renal hypomagnesemia 5 with ocular involvement


mandibuloacral dysplasia with type A lipodystrophy


thiamine-responsive megaloblastic anemia syndrome


intellectual disability, autosomal recessive 1


blepharophimosis - intellectual disability syndrome, Ohdo type


metachromatic leukodystrophy due to saposin B deficiency


spondylometaphyseal dysplasia, Sedaghatian type


metaphyseal chondrodysplasia, Spahr type


metaphyseal chondrodysplasia-retinitis pigmentosa syndrome


metaphyseal dysplasia without hypotrichosis


methemoglobinemia due to deficiency of methemoglobin reductase


methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency


methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency


microcephaly 1, primary, autosomal recessive


microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma


mitochondrial DNA depletion syndrome 3 (hepatocerebral type)


sulfite oxidase deficiency due to molybdenum cofactor deficiency type B


lethal congenital contracture syndrome 1


autosomal recessive limb-girdle muscular dystrophy type 2A


autosomal recessive limb-girdle muscular dystrophy type 2B


autosomal recessive limb-girdle muscular dystrophy type 2C


autosomal recessive limb-girdle muscular dystrophy type 2H


carnitine palmitoyl transferase II deficiency, myopathic form


carnitine palmitoyl transferase 1A deficiency


hereditary myopathy with lactic acidosis due to ISCU deficiency


myopathy, myosin storage, autosomal recessive


congenital multicore myopathy with external ophthalmoplegia


mitochondrial DNA depletion syndrome 6 (hepatocerebral type)


hereditary sensory and autonomic neuropathy with spastic paraplegia


oculodentodigital dysplasia, autosomal recessive


nonarteritic anterior ischemic optic neuropathy, susceptibility to


chronic recurrent multifocal osteomyelitis


progressive supranuclear palsy-parkinsonism syndrome


phosphoenolpyruvate carboxykinase deficiency, mitochondrial


lethal congenital glycogen storage disease of heart


pituitary hormone deficiency, combined, 2


short stature due to growth hormone qualitative anomaly


short stature-pituitary and cerebellar defects-small sella turcica syndrome


autosomal recessive polycystic kidney disease


pterin-4 alpha-carbinolamine dehydratase 1 deficiency


46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency


autosomal recessive inherited pseudoxanthoma elasticum


surfactant metabolism dysfunction, pulmonary, 1


alveolar capillary dysplasia with misalignment of pulmonary veins


hemolytic anemia due to pyrimidine 5' nucleotidase deficiency


renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss


renal tubular dysgenesis of genetic origin


myoglobinuria, acute recurrent, autosomal recessive


combined immunodeficiency due to ZAP70 deficiency


growth delay due to insulin-like growth factor I resistance


mitochondrial DNA depletion syndrome 7 (hepatocerebral type)


spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures


spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome


succinic semialdehyde dehydrogenase deficiency


thyroid hormone resistance, generalized, autosomal recessive


isolated thyroid-stimulating hormone deficiency


isolated thyrotropin-releasing hormone deficiency


hypothyroidism due to TSH receptor mutations


trichomegaly-retina pigmentary degeneration-dwarfism syndrome


congenital bilateral aplasia of vas deferens from CFTR mutation


autosomal recessive spondylocostal dysostosis


methylmalonic aciduria and homocystinuria type cblF


methylmalonic aciduria and homocystinuria type cblD


vitamin K-dependent clotting factors, combined deficiency of, type 1


familial isolated deficiency of vitamin E


intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked


heterotopia, periventricular, X-linked dominant


X-linked intellectual disability-psychosis-macroorchidism syndrome


developmental and epileptic encephalopathy, 9


intellectual disability, X-linked, with panhypopituitarism


X-linked lissencephaly with abnormal genitalia


spondyloepimetaphyseal dysplasia, Bieganski type


syndromic X-linked intellectual disability Shashi type


terminal osseous dysplasia-pigmentary defects syndrome


syndromic X-linked intellectual disability Lubs type


syndromic X-linked intellectual disability Siderius type


ectodermal dysplasia and immune deficiency


hypoxanthine guanine phosphoribosyltransferase partial deficiency


X-linked intellectual disability, Cabezas type


thrombocytopenia, X-linked, with or without dyserythropoietic anemia


osteopathia striata with cranial sclerosis


T-B+ severe combined immunodeficiency due to gamma chain deficiency


intellectual disability, X-linked, with or without seizures, ARX-related


syndromic X-linked intellectual disability Hedera type


corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome


severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome


X-linked intellectual disability-cerebellar hypoplasia syndrome


X-linked distal spinal muscular atrophy type 3


epilepsy, X-linked 1, with variable learning disabilities and behavior disorders


deafness-intellectual disability, Martin-Probst type syndrome


syndromic X-linked intellectual disability Claes-Jensen type


nephrogenic syndrome of inappropriate antidiuresis


developmental and epileptic encephalopathy, 8


X-linked hereditary sensory and autonomic neuropathy with hearing loss


fragile X-associated tremor/ataxia syndrome


X-linked lymphoproliferative disease due to XIAP deficiency


rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked


X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency


glycogen storage disease due to phosphoglycerate kinase 1 deficiency


developmental and epileptic encephalopathy, 2


severe neonatal-onset encephalopathy with microcephaly


syndromic X-linked intellectual disability 14


X-linked scapuloperoneal muscular dystrophy


syndromic X-linked intellectual disability 94


intellectual disability, X-linked syndromic, Turner type


syndactyly-telecanthus-anogenital and renal malformations syndrome


myopathy, reducing body, X-linked, early-onset, severe


myopathy, reducing body, X-linked, childhood-onset


syndromic X-linked intellectual disability Najm type


surfactant metabolism dysfunction, pulmonary, 4


syndromic X-linked intellectual disability Raymond type


thrombophilia, X-linked, due to factor 9 defect


severe X-linked mitochondrial encephalomyopathy


X-linked dyserythropoetic anemia with abnormal platelets and neutropenia


X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia


syndromic X-linked intellectual disability Nascimento type


X-linked dominant chondrodysplasia, Chassaing-Lacombe type


multiple congenital anomalies-hypotonia-seizures syndrome 2


developmental and epileptic encephalopathy, 36


linear skin defects with multiple congenital anomalies 2


X-linked central congenital hypothyroidism with late-onset testicular enlargement


neurodegeneration with brain iron accumulation 5


SLC35A2-congenital disorder of glycosylation


anemia, nonspherocytic hemolytic, due to G6PD deficiency


X-linked intellectual disability, Cantagrel type


X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome


SSR4-congenital disorder of glycosylation


Diamond-Blackfan anemia 14 with mandibulofacial dysostosis


linear skin defects with multiple congenital anomalies 3


X-linked intellectual disability-short stature-overweight syndrome


intellectual disability, X-linked, syndromic 33


syndromic X-linked intellectual disability 34


intellectual disability, X-linked 99, syndromic, female-restricted


intellectual disability, X-linked, syndromic, Bain type


combined immunodeficiency due to moesin deficiency


midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis


ciliary dyskinesia, primary, 36, X-linked


X-linked sideroblastic anemia with ataxia


infantile-onset X-linked spinal muscular atrophy


Charcot-Marie-Tooth disease X-linked dominant 1


cleft palate with or without ankyloglossia, X-linked


X-linked complicated corpus callosum dysgenesis


syndromic X-linked intellectual disability 5


X-linked mixed hearing loss with perilymphatic gusher


X-linked hypohidrotic ectodermal dysplasia


X-linked hydrocephalus with stenosis of the aqueduct of Sylvius


isolated growth hormone deficiency type III


keratosis follicularis spinulosa decalvans, X-linked


proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis


X-linked intellectual disability with marfanoid habitus


methylmalonic acidemia with homocystinuria, type cblX


severe X-linked intellectual disability, Gustavson type


intellectual disability-hypotonic facies syndrome, X-linked, 1


syndromic X-linked intellectual disability Snyder type


X-linked Emery-Dreifuss muscular dystrophy


X-linked myopathy with excessive autophagy


nephrolithiasis, X-linked recessive, with renal failure


Charcot-Marie-Tooth disease X-linked recessive 4


Charcot-Marie-Tooth disease X-linked recessive 5


early-onset parkinsonism-intellectual disability syndrome


maternally-inherited diabetes and deafness


pancreatic hypoplasia-diabetes-congenital heart disease syndrome


autosomal recessive nonsyndromic hearing loss 2


vitamin D hydroxylation-deficient rickets, type 1B


autosomal dominant nonsyndromic hearing loss 2A


rhizomelic chondrodysplasia punctata type 3


neuronopathy, distal hereditary motor, autosomal dominant 8


multiple cutaneous and mucosal venous malformations


autosomal recessive nonsyndromic hearing loss 3


telangiectasia, hereditary hemorrhagic, type 2


maturity-onset diabetes of the young type 3


autosomal dominant nocturnal frontal lobe epilepsy 1


fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement


carnitine palmitoyl transferase II deficiency, severe infantile form


autosomal dominant nonsyndromic hearing loss 4A


autosomal recessive nonsyndromic hearing loss 4


frontotemporal dementia and/or amyotrophic lateral sclerosis 7


T-B+ severe combined immunodeficiency due to JAK3 deficiency


low phospholipid associated cholelithiasis


hereditary hyperferritinemia with congenital cataracts


obesity due to prohormone convertase I deficiency


diffuse nonepidermolytic palmoplantar keratoderma


autosomal dominant nonsyndromic hearing loss 6


autosomal recessive nonsyndromic hearing loss 6


autosomal recessive nonsyndromic hearing loss 7


cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies


autosomal dominant nonsyndromic hearing loss 5


epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive


autosomal recessive nonsyndromic hearing loss 9


autosomal recessive nonsyndromic hearing loss 8


ALG3-congenital disorder of glycosylation


autosomal recessive congenital ichthyosis 4A


diabetes mellitus, noninsulin-dependent, 1


autosomal recessive limb-girdle muscular dystrophy type 2F


autosomal dominant nonsyndromic hearing loss 10


autosomal dominant nonsyndromic hearing loss 11


intellectual disability-sparse hair-brachydactyly syndrome


autosomal dominant nonsyndromic hearing loss 9


autosomal recessive nonsyndromic hearing loss 12


diabetes mellitus, transient neonatal, 1


autosomal dominant nonsyndromic hearing loss 7


severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive


autosomal dominant nonsyndromic hearing loss 12


autosomal dominant nonsyndromic hearing loss 3A


facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome


congenital hypotrichosis with juvenile macular dystrophy


T-cell immunodeficiency, congenital alopecia, and nail dystrophy


Ehlers-Danlos syndrome, musculocontractural type


acroosteolysis-keloid-like lesions-premature aging syndrome


autosomal dominant nonsyndromic hearing loss 13


autosomal recessive nonsyndromic hearing loss 15


malignant hyperthermia, susceptibility to, 5


keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome


autosomal recessive limb-girdle muscular dystrophy type 2G


infantile convulsions and choreoathetosis


fibrosis of extraocular muscles, congenital, 2


autosomal recessive nonsyndromic hearing loss 18A


spondyloepimetaphyseal dysplasia, Missouri type


progressive familial intrahepatic cholestasis type 3


autosomal recessive congenital ichthyosis 11


severe combined immunodeficiency due to DCLRE1C deficiency


autosomal dominant nonsyndromic hearing loss 15


hyperinsulinism due to glucokinase deficiency


megaconial type congenital muscular dystrophy


MPI-congenital disorder of glycosylation


acromesomelic dysplasia 1, Maroteaux type


ALG6-congenital disorder of glycosylation 1C


arhinia, choanal atresia, and microphthalmia


familial hemophagocytic lymphohistiocytosis 4


familial hemophagocytic lymphohistiocytosis 2


SLC35A1-congenital disorder of glycosylation


autosomal recessive nonsyndromic hearing loss 21


myopathy, myofibrillar, 9, with early respiratory failure


autosomal recessive nonsyndromic hearing loss 16


blepharophimosis - intellectual disability syndrome, SBBYS type


hypercholesterolemia, autosomal dominant, 3


autoimmune lymphoproliferative syndrome type 2A


intervertebral disk degenerative disorder


microvascular complications of diabetes, susceptibility to, 1


megalencephalic leukoencephalopathy with subcortical cysts


dystrophic epidermolysis bullosa pruriginosa


congenital cataracts-facial dysmorphism-neuropathy syndrome


facial paresis, hereditary congenital, 2


familial encephalopathy with neuroserpin inclusion bodies


generalized epilepsy with febrile seizures plus, type 1


short stature due to partial GHR deficiency


mitochondrial complex V (ATP synthase) deficiency, nuclear type 1


autosomal recessive proximal renal tubular acidosis


autosomal recessive limb-girdle muscular dystrophy type 2E


ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3


microcephaly 2, primary, autosomal recessive, with or without cortical malformations


autosomal recessive distal spinal muscular atrophy 1


microcephaly 4, primary, autosomal recessive


cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1


arrhythmogenic right ventricular dysplasia 5


generalized epilepsy with febrile seizures plus, type 2


hereditary motor and sensory neuropathy, Okinawa type


epidermolysis bullosa simplex due to plakophilin deficiency


progressive familial heart block type IB


autosomal dominant nonsyndromic hearing loss 20


catecholaminergic polymorphic ventricular tachycardia 1


autosomal recessive congenital ichthyosis 5


microcephaly 3, primary, autosomal recessive


mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis


diabetes mellitus, congenital autoimmune


autosomal dominant nonsyndromic hearing loss 23


autosomal dominant nocturnal frontal lobe epilepsy 3


autosomal recessive nonsyndromic hearing loss 26


radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome


benign recurrent intrahepatic cholestasis type 2


autosomal dominant nonsyndromic hearing loss 25


deafness, autosomal dominant 39, with dentinogenesis imperfecta 1


arrhythmogenic cardiomyopathy with wooly hair and keratoderma


cerebral amyloid angiopathy, APP-related


autosomal recessive distal spinal muscular atrophy 2


neonatal intrahepatic cholestasis due to citrin deficiency


autosomal recessive early-onset Parkinson disease 6


nephrolithiasis, uric acid, susceptibility to


MOGS-congenital disorder of glycosylation


Charcot-Marie-Tooth disease axonal type 2C


Diamond-Blackfan anemia 15 with mandibulofacial dysostosis


atrioventricular septal defect, susceptibility to, 2


autosomal recessive early-onset Parkinson disease 7


autosomal dominant nonsyndromic hearing loss 22


maturity-onset diabetes of the young type 4


Ehlers-Danlos syndrome due to tenascin-X deficiency


Charcot-Marie-Tooth disease dominant intermediate B


Charcot-Marie-Tooth Disease, axonal, type 2GG


autosomal recessive congenital ichthyosis 3


vitiligo-associated multiple autoimmune disease susceptibility 1


Charcot-Marie-Tooth disease axonal type 2F


muscular dystrophy-dystroglycanopathy type B5


glaucoma, normal tension, susceptibility to


spongiform encephalopathy with neuropsychiatric features


autosomal dominant nonsyndromic hearing loss 36


partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome


distal myopathy with anterior tibial onset


primary intraosseous venous malformation


autosomal dominant nonsyndromic hearing loss 21


autosomal recessive nonsyndromic hearing loss 22


46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome


autosomal recessive nonsyndromic hearing loss 31


myasthenia gravis with thymus hyperplasia


B4GALT1-congenital disorder of glycosylation


autosomal recessive nonsyndromic hearing loss 30


multiple epiphyseal dysplasia, Al-Gazali type


ALG12-congenital disorder of glycosylation


autosomal recessive limb-girdle muscular dystrophy type 2I


infantile-onset ascending hereditary spastic paralysis


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1


asthma-related traits, susceptibility to, 1


horizontal gaze palsy with progressive scoliosis


autosomal recessive cerebellar ataxia-saccadic intrusion syndrome


isolated focal cortical dysplasia type II


intellectual disability, autosomal recessive 2


arrhythmogenic right ventricular dysplasia 8


autosomal dominant nonsyndromic hearing loss 44


sensory ataxic neuropathy, dysarthria, and ophthalmoparesis


vitamin K-dependent clotting factors, combined deficiency of, type 2


GRN-related frontotemporal lobar degeneration with Tdp43 inclusions


lethal congenital contracture syndrome 2


neonatal ichthyosis-sclerosing cholangitis syndrome


neuronopathy, distal hereditary motor, type 7B


Parkinson disease 11, autosomal dominant, susceptibility to


leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism


Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive


Charcot-Marie-Tooth disease dominant intermediate D


autosomal recessive nonsyndromic hearing loss 37


Charcot-Marie-Tooth disease axonal type 2K


autoimmune disease, susceptibility to, 1


autosomal dominant nonsyndromic hearing loss 48


nonimmune chronic idiopathic neutropenia of adults


congenital merosin-deficient muscular dystrophy 1A


microphthalmia with brain and digit anomalies


Spondyloenchondrodysplasia with immune dysregulation


familial acute necrotizing encephalopathy


DPAGT1-congenital disorder of glycosylation


periventricular heterotopia with microcephaly, autosomal recessive


ALG8-congenital disorder of glycosylation


rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome


autosomal dominant nonsyndromic hearing loss 41


chronic myelogenous leukemia, BCR-ABL1 positive


autosomal dominant slowed nerve conduction velocity


autosomal recessive nonsyndromic hearing loss 39


coronary artery disease, autosomal dominant, 1


Charcot-Marie-Tooth disease dominant intermediate C


Charcot-Marie-Tooth disease recessive intermediate A


capillary malformation-arteriovenous malformation syndrome


spondyloepiphyseal dysplasia, Kimberley type


microcephaly 6, primary, autosomal recessive


autosomal dominant limb-girdle muscular dystrophy type 1F


intellectual disability, autosomal recessive 3


ALG1-congenital disorder of glycosylation


autosomal recessive nonsyndromic hearing loss 35


choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome


mandibuloacral dysplasia with type B lipodystrophy


neuronopathy, distal hereditary motor, type 2B


autosomal dominant nonsyndromic hearing loss 28


aromatic L-amino acid decarboxylase deficiency


autosomal recessive nonsyndromic hearing loss 32


hereditary sensory and autonomic neuropathy type 5


Charcot-Marie-Tooth disease axonal type 2L


microcephaly 5, primary, autosomal recessive


spondyloepimetaphyseal dysplasia, matrilin-3 type


growth delay due to insulin-like growth factor type 1 deficiency


ALG9-congenital disorder of glycosylation


COG7-congenital disorder of glycosylation


pyruvate dehydrogenase phosphatase deficiency


congenital disorder of glycosylation type 1E


sudden infant death-dysgenesis of the testes syndrome


familial avascular necrosis of femoral head


autosomal recessive limb-girdle muscular dystrophy type 2J


carnitine palmitoyl transferase II deficiency, neonatal form


Carney complex - trismus - pseudocamptodactyly syndrome


muscular dystrophy-dystroglycanopathy type B6


hereditary cryohydrocytosis with reduced stomatin


familial hemophagocytic lymphohistiocytosis 3


spondylometaphyseal dysplasia-cone-rod dystrophy syndrome


susceptibility to respiratory infections associated with CD8alpha chain mutation


autosomal recessive nonsyndromic hearing loss 36


mitochondrial trifunctional protein deficiency


long chain 3-hydroxyacyl-CoA dehydrogenase deficiency


posterior column ataxia-retinitis pigmentosa syndrome


arrhythmogenic right ventricular dysplasia 9


epidermolysis bullosa simplex 7, with nephropathy and deafness


hepatoencephalopathy due to combined oxidative phosphorylation defect type 1


permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome


autosomal dominant limb-girdle muscular dystrophy type 1G


autosomal dominant auditory neuropathy 1


posterior polymorphous corneal dystrophy 2


posterior polymorphous corneal dystrophy 3


familial hyperthyroidism due to mutations in TSH receptor


spondyloepiphyseal dysplasia with metatarsal shortening


congenital reticular ichthyosiform erythroderma


MPDU1-congenital disorder of glycosylation


foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome


alpha-N-acetylgalactosaminidase deficiency type 1


autosomal recessive spinocerebellar ataxia 7


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2


congenital myopathy 4B, autosomal recessive


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3


developmental and epileptic encephalopathy, 3


autosomal recessive limb-girdle muscular dystrophy type 2K


epidermolysis bullosa simplex 2E, with migratory circinate erythema


mesoaxial synostotic syndactyly with phalangeal reduction


autosomal recessive nonsyndromic hearing loss 48


generalized epilepsy-paroxysmal dyskinesia syndrome


Stickler syndrome, type I, nonsyndromic ocular


autosomal recessive nonsyndromic hearing loss 23


mitochondrial DNA depletion syndrome, myopathic form


familial scaphocephaly syndrome, McGillivray type


lethal acantholytic epidermolysis bullosa


autosomal recessive nonsyndromic hearing loss 42


autosomal recessive nonsyndromic hearing loss 53


obesity due to pro-opiomelanocortin deficiency


maturity-onset diabetes of the young type 8


autosomal recessive nonsyndromic hearing loss 28


combined immunodeficiency due to partial RAG1 deficiency


hyperinsulinemic hypoglycemia, familial, 4


primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency


congenital brain dysgenesis due to glutamine synthetase deficiency


complex cortical dysplasia with other brain malformations 7


cortical dysplasia-focal epilepsy syndrome


microphthalmia, isolated, with coloboma 3


Finnish upper limb-onset distal myopathy


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4


autosomal recessive nonsyndromic hearing loss 49


autosomal recessive nonsyndromic hearing loss 44


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2


arrhythmogenic right ventricular dysplasia 10


neonatal diabetes mellitus with congenital hypothyroidism


autosomal recessive nonsyndromic hearing loss 66


autosomal recessive nonsyndromic hearing loss 59


seborrhea-like dermatitis with psoriasiform elements


autosomal recessive nonsyndromic hearing loss 67


hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency


Parkinson disease 13, autosomal dominant, susceptibility to


autosomal dominant nocturnal frontal lobe epilepsy 4


cone dystrophy with supernormal rod response


diabetes mellitus, transient neonatal, 2


autosomal recessive nonsyndromic hearing loss 68


cone-rod synaptic disorder, congenital nonprogressive


spondyloepimetaphyseal dysplasia, Genevieve type


congenital stationary night blindness autosomal dominant 3


congenital stationary night blindness autosomal dominant 1


normophosphatemic familial tumoral calcinosis


pigmented nodular adrenocortical disease, primary, 2


arrhythmogenic right ventricular dysplasia 11


pigmented nodular adrenocortical disease, primary, 1


combined oxidative phosphorylation defect type 2


preterm premature rupture of the membranes


fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3


maturity-onset diabetes of the young type 7


Gaucher disease due to saposin C deficiency


diabetes mellitus, transient neonatal, 3


combined oxidative phosphorylation defect type 4


deafness with labyrinthine aplasia, microtia, and microdontia


DK1-congenital disorder of glycosylation


primary immunodeficiency syndrome due to p14 deficiency


body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency


interstitial lung disease due to ABCA3 deficiency


coronary artery disease, autosomal dominant 2


autosomal recessive nonsyndromic hearing loss 24


asthma-related traits, susceptibility to, 5


neuronopathy, distal hereditary motor, autosomal recessive 4


polyhydramnios, megalencephaly, and symptomatic epilepsy


intellectual disability, autosomal recessive 12


intellectual disability, autosomal recessive 5


intellectual disability, autosomal recessive 6


intellectual disability, autosomal recessive 7


leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome


craniofacial dysplasia - osteopenia syndrome


COG8-congenital disorder of glycosylation


COG1-congenital disorder of glycosylation


autosomal recessive limb-girdle muscular dystrophy type 2L


lethal congenital contracture syndrome 3


autosomal recessive nonsyndromic hearing loss 63


arrhythmogenic right ventricular dysplasia 12


glycogen storage disease due to muscle and heart glycogen synthase deficiency


autosomal recessive limb-girdle muscular dystrophy type 2M


microphthalmia, isolated, with coloboma 5


early-onset myopathy with fatal cardiomyopathy


hypotonia with lactic acidemia and hyperammonemia


Krabbe disease due to saposin A deficiency


familial cold autoinflammatory syndrome 2


autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome


glycogen storage disease due to aldolase A deficiency


lethal arthrogryposis-anterior horn cell disease syndrome


asthma-related traits, susceptibility to, 7


chromosome 15q13.3 microdeletion syndrome


RFT1-congenital disorder of glycosylation


autosomal recessive ataxia due to ubiquinone deficiency


mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria


diarrhea-vomiting due to trehalase deficiency


ectodermal dysplasia and immunodeficiency 2


epidermolysis bullosa simplex 5C, with pyloric atresia


developmental and epileptic encephalopathy, 4


maturity-onset diabetes of the young type 9


Crouzon syndrome-acanthosis nigricans syndrome


pyogenic bacterial infections due to MyD88 deficiency


autosomal recessive congenital ichthyosis 6


bilateral microtia-deafness-cleft palate syndrome


thrombophilia due to protein C deficiency, autosomal recessive


intellectual disability, autosomal dominant 22


Ehlers-Danlos syndrome, spondylocheirodysplastic type


SRD5A3-congenital disorder of glycosylation


bone fragility with contractures, arterial rupture, and deafness


autosomal dominant nonsyndromic hearing loss 27


congenital generalized lipodystrophy type 3


amelogenesis imperfecta hypomaturation type 2A2


intellectual disability, autosomal dominant 3


intellectual disability, autosomal dominant 5


microvascular complications of diabetes, susceptibility to, 2


microvascular complications of diabetes, susceptibility to, 3


microvascular complications of diabetes, susceptibility to, 4


hemolytic anemia due to adenylate kinase deficiency


microvascular complications of diabetes, susceptibility to, 6


autosomal dominant nonsyndromic hearing loss 3B


autosomal dominant nonsyndromic hearing loss 2B


autosomal recessive nonsyndromic hearing loss 1B


bilateral parasagittal parieto-occipital polymicrogyria


microcephaly 7, primary, autosomal recessive


dopa-responsive dystonia due to sepiapterin reductase deficiency


porphyria due to ALA dehydratase deficiency


isolated growth hormone deficiency type IB


combined immunodeficiency due to ORAI1 deficiency


combined immunodeficiency due to STIM1 deficiency


spondyloepimetaphyseal dysplasia, aggrecan type


sterile multifocal osteomyelitis with periostitis and pustulosis


adenosine monophosphate deaminase deficiency


glycogen storage disease due to muscle beta-enolase deficiency


glycogen storage disease due to lactate dehydrogenase M-subunit deficiency


DPM3-congenital disorder of glycosylation


lethal polymalformative syndrome, Boissel type


developmental and epileptic encephalopathy, 39


cystic leukoencephalopathy without megalencephaly


autosomal recessive Parkinson disease 14


palmoplantar keratoderma, nonepidermolytic, focal 1


bronchiectasis with or without elevated sweat chloride 2


neurodegenerative syndrome due to cerebral folate transport deficiency


acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins


bronchiectasis with or without elevated sweat chloride 3


autosomal dominant nonsyndromic hearing loss 50


congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5


Nijmegen breakage syndrome-like disorder


autosomal recessive nonsyndromic hearing loss 77


familial juvenile hyperuricemic nephropathy type 2


familial hemophagocytic lymphohistiocytosis 5


hereditary hypotrichosis with recurrent skin vesicles


neutropenia, severe congenital, 2, autosomal dominant


neuropathy, hereditary sensory and autonomic, type 2B


hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3


muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2


autosomal recessive limb-girdle muscular dystrophy type 2O


autosomal recessive limb-girdle muscular dystrophy type 2N


cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies


purine nucleoside phosphorylase deficiency


intellectual disability, autosomal recessive 13


congenital muscular dystrophy due to integrin alpha-7 deficiency


congenital muscular dystrophy due to LMNA mutation


asthma-related traits, susceptibility to, 8


amelogenesis imperfecta hypomaturation type 2A3


congenital diarrhea 5 with tufting enteropathy


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3


thyrotoxic periodic paralysis, susceptibility to, 2


cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome


metabolic dysfunction-associated steatotic liver disease


autosomal recessive nonsyndromic hearing loss 25


Charcot-Marie-Tooth disease axonal type 2N


hearing loss, cisplatin-induced, susceptibility to


autosomal recessive nonsyndromic hearing loss 79


hypophosphatemic rickets, autosomal recessive, 2


congenital generalized lipodystrophy type 4


combined immunodeficiency with faciooculoskeletal anomalies


congenital plasminogen activator inhibitor type 1 deficiency


susceptibility to mononeuropathy of the median nerve, mild


maturity-onset diabetes of the young type 10


maturity-onset diabetes of the young type 11


neuronopathy, distal hereditary motor, type 2C


syndromic multisystem autoimmune disease due to ITCH deficiency


autosomal recessive nonsyndromic hearing loss 84A


breast-ovarian cancer, familial, susceptibility to, 3


microcephaly, seizures, and developmental delay


intellectual disability, autosomal dominant 20


autosomal recessive nonsyndromic hearing loss 91


hemolytic anemia due to glucophosphate isomerase deficiency


developmental and epileptic encephalopathy, 5


COG4-congenital disorder of glycosylation


combined oxidative phosphorylation defect type 7


lymphedema-posterior choanal atresia syndrome


COG5-congenital disorder of glycosylation


factor 5 and Factor VIII, combined deficiency of, 2


neuropathy, hereditary sensory and autonomic, type 1C


Charcot-Marie-Tooth disease recessive intermediate B


Parkinson disease 5, autosomal dominant, susceptibility to


methylmalonic acidemia due to transcobalamin receptor defect


migraine, with or without aura, susceptibility to, 13


ALG11-congenital disorder of glycosylation


infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly


intellectual disability-severe speech delay-mild dysmorphism syndrome


intellectual disability, anterior maxillary protrusion, and strabismus


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome


Klippel-Feil syndrome 3, autosomal dominant


microphthalmia, isolated, with coloboma 6


progressive demyelinating neuropathy with bilateral striatal necrosis


autosomal recessive nonsyndromic hearing loss 74


developmental and epileptic encephalopathy, 7


developmental and epileptic encephalopathy, 11


developmental and epileptic encephalopathy, 12


autosomal recessive limb-girdle muscular dystrophy type 2Q


porencephaly-microcephaly-bilateral congenital cataract syndrome


type II complement component 8 deficiency


type I complement component 8 deficiency


immunodeficiency due to MASP-2 deficiency


autosomal recessive limb-girdle muscular dystrophy type 2P


constitutional megaloblastic anemia with severe neurologic disease


hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome


congenital heart defects, multiple types, 6


immunodeficiency due to ficolin3 deficiency


autosomal recessive nonsyndromic hearing loss 61


fatal infantile hypertonic myofibrillar myopathy


Hirschsprung disease, cardiac defects, and autonomic dysfunction


obesity, hyperphagia, and developmental delay


recurrent Neisseria infections due to factor D deficiency


autosomal recessive nonsyndromic hearing loss 89


megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability


autosomal recessive congenital ichthyosis 8


frontotemporal dementia and/or amyotrophic lateral sclerosis 6


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3


intellectual disability, autosomal dominant 6


intellectual disability, autosomal recessive 14


hyperlipidemia due to hepatic triglyceride lipase deficiency


autosomal recessive nonsyndromic hearing loss 29


hypotonia-failure to thrive-microcephaly syndrome


complex cortical dysplasia with other brain malformations 1


mitochondrial complex V (ATP synthase) deficiency nuclear type 2


mitochondrial complex V (ATP synthase) deficiency nuclear type 3


distal myopathy with posterior leg and anterior hand involvement


immunodeficiency-centromeric instability-facial anomalies syndrome 2


chondrodysplasia with joint dislocations, gPAPP type


multiple congenital anomalies-hypotonia-seizures syndrome 1


combined oxidative phosphorylation defect type 8


recurrent infections associated with rare immunoglobulin isotypes deficiency


DYRK1A-related intellectual disability syndrome


methylmalonate semialdehyde dehydrogenase deficiency


pyruvate dehydrogenase E1-beta deficiency


hereditary sensory neuropathy-deafness-dementia syndrome


glycogen storage disease due to lactate dehydrogenase H-subunit deficiency


autosomal dominant nonsyndromic hearing loss 64


autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome


monocytopenia with susceptibility to infections


pigmented nodular adrenocortical disease, primary, 3


craniofacial anomalies and anterior segment dysgenesis syndrome


LAMB2-related infantile-onset nephrotic syndrome


hyperphosphatasia with intellectual disability syndrome 3


encephalopathy, acute, infection-induced, susceptibility to, 4


Charcot-Marie-Tooth disease axonal type 2O


intellectual disability, autosomal recessive 18


Parkinson disease 18, autosomal dominant, susceptibility to


intellectual disability, autosomal dominant 8


intellectual disability, autosomal dominant 10


intellectual disability, autosomal dominant 11


arthrogryposis, Perthes disease, and upward gaze palsy


combined malonic and methylmalonic acidemia


platelet-activating factor acetylhydrolase deficiency


46,XY disorder of sex development due to testicular 17,20-desmolase deficiency


breast-ovarian cancer, familial, susceptibility to, 4


myopia, high, with cataract and vitreoretinal degeneration


neurodegeneration with brain iron accumulation 4


multiple mitochondrial dysfunctions syndrome 2


cognitive impairment with or without cerebellar ataxia


inflammatory skin and bowel disease, neonatal, 1


pancreatic triacylglycerol lipase deficiency


intellectual disability, autosomal recessive 27


peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome


surfactant metabolism dysfunction, pulmonary, 5


encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1


pregnancy loss, recurrent, susceptibility to, 1


pregnancy loss, recurrent, susceptibility to, 2


pregnancy loss, recurrent, susceptibility to, 3


Charcot-Marie-Tooth disease axonal type 2P


cutis laxa, autosomal recessive, type 1B


Charcot-Marie-Tooth disease dominant intermediate E


childhood encephalopathy due to thiamine pyrophosphokinase deficiency


transient infantile hypertriglyceridemia and hepatosteatosis


microphthalmia, isolated, with coloboma 7


intellectual disability, autosomal recessive 34


DDOST-congenital disorder of glycosylation


Ehlers-Danlos syndrome, kyphoscoliotic type, 2


developmental and epileptic encephalopathy, 13


leukoencephalopathy with calcifications and cysts


intellectual disability, autosomal dominant 13


COG6-congenital disorder of glycosylation


combined oxidative phosphorylation defect type 9


autosomal dominant nonsyndromic hearing loss 4B


autosomal recessive nonsyndromic hearing loss 86


familial steroid-resistant nephrotic syndrome with sensorineural deafness


hereditary sensory and autonomic neuropathy type 6


encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome


microcephaly 8, primary, autosomal recessive


mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency


TMEM165-congenital disorder of glycosylation


3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome


mitochondrial pyruvate carrier deficiency


pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1


pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2


epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome


cerebellar dysfunction with variable cognitive and behavioral abnormalities


amelogenesis imperfecta hypomaturation type 2A4


hypogonadotropic hypogonadism 8 with or without anosmia


hypogonadotropic hypogonadism 9 with or without anosmia


hypogonadotropic hypogonadism 10 with or without anosmia


hypogonadotropic hypogonadism 11 with or without anosmia


hypogonadotropic hypogonadism 12 with or without anosmia


hypogonadotropic hypogonadism 13 with or without anosmia


microcephaly 9, primary, autosomal recessive


methylmalonic acidemia with homocystinuria, type cblJ


hypogonadotropic hypogonadism 14 with or without anosmia


peroxisome biogenesis disorder 3A (Zellweger)


autosomal recessive nonsyndromic hearing loss 98


peroxisome biogenesis disorder 4A (Zellweger)


peroxisome biogenesis disorder 5A (Zellweger)


combined immunodeficiency due to STK4 deficiency


peroxisome biogenesis disorder 6A (Zellweger)


peroxisome biogenesis disorder 7A (Zellweger)


peroxisome biogenesis disorder 8A (Zellweger)


autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation


hypogonadotropic hypogonadism 15 with or without anosmia


neuronopathy, distal hereditary motor, autosomal recessive 5


peroxisome biogenesis disorder 10A (Zellweger)


peroxisome biogenesis disorder 11A (Zellweger)


peroxisome biogenesis disorder 12A (Zellweger)


peroxisome biogenesis disorder 13A (Zellweger)


Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency


Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency


Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency


Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency


hypogonadotropic hypogonadism 16 with or without anosmia


autosomal recessive nonsyndromic hearing loss 93


lethal congenital contracture syndrome 4


PGM1-congenital disorder of glycosylation


combined oxidative phosphorylation defect type 11


branched-chain keto acid dehydrogenase kinase deficiency


leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome


combined oxidative phosphorylation defect type 13


autosomal recessive nonsyndromic hearing loss 70


ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant


autosomal recessive nonsyndromic hearing loss 84B


autosomal recessive nonsyndromic hearing loss 18B


combined oxidative phosphorylation defect type 14


combined oxidative phosphorylation defect type 15


developmental and epileptic encephalopathy, 14


obesity due to congenital leptin deficiency


obesity due to leptin receptor gene deficiency


congenital heart defects, multiple types, 2


autosomal dominant nocturnal frontal lobe epilepsy 5


basal ganglia calcification, idiopathic, 4


autosomal recessive congenital ichthyosis 9


autosomal recessive congenital ichthyosis 10


Charcot-Marie-Tooth disease axonal type 2Q


familial episodic pain syndrome with predominantly upper body involvement


congenital muscular dystrophy with intellectual disability and severe epilepsy


lower motor neuron syndrome with late-adult onset


microcephalic primordial dwarfism, Alazami type


severe intellectual disability-progressive spastic diplegia syndrome


microcephalic primordial dwarfism due to ZNF335 deficiency


facial dysmorphism-immunodeficiency-livedo-short stature syndrome


microphthalmia, isolated, with coloboma 9


progressive retinal dystrophy due to retinol transport defect


mitochondrial DNA deletion syndrome with progressive myopathy


Charcot-Marie-Tooth disease dominant intermediate F


severe combined immunodeficiency due to CARD11 deficiency


cryptosporidiosis-chronic cholangitis-liver disease syndrome


agammaglobulinemia 7, autosomal recessive


hydrocephalus, nonsyndromic, autosomal recessive 2


corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome


mitochondrial complex V (ATP synthase) deficiency nuclear type 4B


hypogonadotropic hypogonadism 17 with or without anosmia


hypogonadotropic hypogonadism 18 with or without anosmia


hypogonadotropic hypogonadism 19 with or without anosmia


hypogonadotropic hypogonadism 20 with or without anosmia


hypogonadotropic hypogonadism 21 with or without anosmia


hypomyelination with brain stem and spinal cord involvement and leg spasticity


complex cortical dysplasia with other brain malformations 2


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14


autosomal recessive limb-girdle muscular dystrophy type 2T


autosomal recessive limb-girdle muscular dystrophy type R18


fetal akinesia-cerebral and retinal hemorrhage syndrome


Charcot-Marie-Tooth disease recessive intermediate C


infantile hypertrophic cardiomyopathy due to MRPL44 deficiency


multiple congenital anomalies-hypotonia-seizures syndrome 3


severe combined immunodeficiency due to CORO1A deficiency


dyschromatosis universalis hereditaria 3


complex cortical dysplasia with other brain malformations 3


complex cortical dysplasia with other brain malformations 4


microcephaly 11, primary, autosomal recessive


mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive


autosomal recessive nonsyndromic hearing loss 88


retinitis pigmentosa with or without situs inversus


combined oxidative phosphorylation defect type 17


catecholaminergic polymorphic ventricular tachycardia 5


combined immunodeficiency due to MALT1 deficiency


developmental and epileptic encephalopathy, 17


developmental and epileptic encephalopathy, 18


basal ganglia calcification, idiopathic, 5


severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome


severe early-onset pulmonary alveolar proteinosis due to MARS deficiency


early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome


intellectual disability-hypotonia-spasticity-sleep disorder syndrome


sulfite oxidase deficiency due to molybdenum cofactor deficiency type C


intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome


telangiectasia, hereditary hemorrhagic, type 5


severe dermatitis-multiple allergies-metabolic wasting syndrome


alacrima, achalasia, and intellectual disability syndrome


myopathy due to myoadenylate deaminase deficiency


developmental delay with autism spectrum disorder and gait instability


Ehlers-Danlos syndrome, musculocontractural type 2


autosomal recessive nonsyndromic hearing loss 76


severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome


testicular anomalies with or without congenital heart disease


hereditary sensory and autonomic neuropathy type 7


familial episodic pain syndrome with predominantly lower limb involvement


autism spectrum disorder - epilepsy - arthrogryposis syndrome


congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome


neuronopathy, distal hereditary motor, type 2D


growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome


severe combined immunodeficiency due to IKK2 deficiency


combined immunodeficiency due to OX40 deficiency


combined oxidative phosphorylation deficiency 19


STT3A-congenital disorder of glycosylation


STT3B-congenital disorder of glycosylation


palmoplantar keratoderma, Nagashima type


microcephaly-thin corpus callosum-intellectual disability syndrome


combined immunodeficiency due to CD3gamma deficiency


autosomal dominant nonsyndromic hearing loss 56


neurodegeneration with brain iron accumulation 6


leukoencephalopathy with mild cerebellar ataxia and white matter edema


proximal myopathy with extrapyramidal signs


autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity


Bosch-Boonstra-Schaaf optic atrophy syndrome


palmoplantar keratoderma, nonepidermolytic, focal or diffuse


developmental and epileptic encephalopathy, 19


Moyamoya disease with early-onset achalasia


hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency


severe combined immunodeficiency due to LCK deficiency


diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome


intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency


complex cortical dysplasia with other brain malformations 5


complex cortical dysplasia with other brain malformations 6


female infertility due to zona pellucida defect


congenital heart defects, multiple types, 4


intellectual disability, autosomal recessive 42


intellectual disability, autosomal recessive 43


cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis


intellectual disability, autosomal dominant 24


AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome


pigmented nodular adrenocortical disease, primary, 4


developmental and epileptic encephalopathy, 21


autism spectrum disorder due to AUTS2 deficiency


autosomal recessive nonsyndromic hearing loss 101


postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome


developmental and epileptic encephalopathy, 23


developmental and epileptic encephalopathy, 24


ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder


colobomatous microphthalmia-rhizomelic dysplasia syndrome


cholestasis, progressive familial intrahepatic, 4


amelogenesis imperfecta hypomaturation type 2A5


leukoencephalopathy, progressive, with ovarian failure


severe combined immunodeficiency due to CTPS1 deficiency


developmental and epileptic encephalopathy, 25


frontotemporal dementia and/or amyotrophic lateral sclerosis 2


combined oxidative phosphorylation defect type 20


combined oxidative phosphorylation defect type 21


tall stature-scoliosis-macrodactyly of the great toes syndrome


severe neurodegenerative syndrome with lipodystrophy


STING-associated vasculopathy with onset in infancy


intellectual disability, autosomal recessive 44


STAT3-related early-onset multisystem autoimmune disease


kallikrein, decreased urinary activity of


short stature due to primary acid-labile subunit deficiency


severe combined immunodeficiency due to DNA-PKcs deficiency


autosomal recessive nonsyndromic hearing loss 102


autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency


intellectual disability, autosomal recessive 45


breasts and/or nipples, aplasia or hypoplasia of, 2


cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome


autosomal recessive severe congenital neutropenia due to JAGN1 deficiency


Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young


nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome


hypogonadotropic hypogonadism 22 with or without anosmia


progressive encephalopathy with leukodystrophy due to DECR deficiency


Charcot-Marie-Tooth disease recessive intermediate D


autosomal recessive nonsyndromic hearing loss 103


autosomal dominant nonsyndromic hearing loss 65


periodic fever-infantile enterocolitis-autoinflammatory syndrome


microcephaly 13, primary, autosomal recessive


autosomal recessive limb-girdle muscular dystrophy type 2U


developmental and epileptic encephalopathy, 26


porokeratosis 8, disseminated superficial actinic type


inflammatory skin and bowel disease, neonatal, 2


intellectual disability, autosomal dominant 29


retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies


microcephaly 12, primary, autosomal recessive


intellectual disability, autosomal dominant 30


diabetes mellitus, noninsulin-dependent, 5


limb-girdle muscular dystrophy due to POMK deficiency


ketoacidosis due to monocarboxylate transporter-1 deficiency


wooly hair-palmoplantar keratoderma syndrome


autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency


retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome


intellectual disability, autosomal recessive 46


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency


developmental and epileptic encephalopathy, 27


Charcot-Marie-Tooth disease axonal type 2S


PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation


macular dystrophy with central cone involvement


generalized epilepsy with febrile seizures plus, type 9


46,XX ovarian dysgenesis-short stature syndrome


juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome


intellectual disability, autosomal recessive 47


combined oxidative phosphorylation defect type 23


chronic atrial and intestinal dysrhythmia


autosomal dominant mitochondrial myopathy with exercise intolerance


developmental and epileptic encephalopathy, 28


fibrosis of extraocular muscles, congenital, 5


myopathy due to calsequestrin and SERCA1 protein overload


combined oxidative phosphorylation defect type 24


lethal congenital contracture syndrome 6


congenital contractures of the limbs and face, hypotonia, and developmental delay


autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome


progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome


neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome


mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency


Charcot-Marie-Tooth disease axonal type 2U


glutamate pyruvate transaminase 2 deficiency


lethal congenital contracture syndrome 7


lethal congenital contracture syndrome 8


intellectual disability, autosomal dominant 33


maturity-onset diabetes of the young type 13


developmental and epileptic encephalopathy, 29


autosomal dominant nonsyndromic hearing loss 67


developmental and epileptic encephalopathy, 30


lissencephaly 7 with cerebellar hypoplasia


developmental and epileptic encephalopathy, 31A


intellectual disability, autosomal dominant 34


autosomal dominant nonsyndromic hearing loss 40


intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome


developmental and epileptic encephalopathy, 32


mandibulofacial dysostosis with alopecia


pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4


intellectual disability, autosomal dominant 38


isolated focal non-epidermolytic palmoplantar keratoderma


microcephaly 14, primary, autosomal recessive


developmental and epileptic encephalopathy, 33


basal ganglia calcification, idiopathic, 6


autoimmune interstitial lung disease-arthritis syndrome


microphthalmia, isolated, with coloboma 10


combined oxidative phosphorylation defect type 25


frontotemporal dementia and/or amyotrophic lateral sclerosis 3


frontotemporal dementia and/or amyotrophic lateral sclerosis 4