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Disease	Synonyms	Description	Articles
autosomal dominant pseudohypoaldosteronism type 1	PHA1A; autosomal dominant PHA 1	A pseudohypoaldosteronism characterized by Salt wa..[+] A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. [-]	1 articles
isolated growth hormone deficiency type IA	primordial dwarfism; pituitary dwarfism I; autosom.. [+] pituitary dwarfism I; primordial dwarfism; autosomal recessive isolated growth hormone deficiency; IGHD IA; Illig-type growth hormone deficiency; sexual ateleiotic dwarfism [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. [-]
renal hypomagnesemia 3	primary hypomagnesemia due to defect in renal tubu.. [+] primary hypomagnesemia due to defect in renal tubular transport of magnesium; familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement; FHHNC without severe ocular involvement; isolated renal hypomagnesemia; HOMG3; renal hypomagnesemia type 3 [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. [-]
intestinal hypomagnesemia 1	primary hypomagnesemia with secondary hypocalcemia.. [+] primary hypomagnesemia with secondary hypocalcemia; HOMG1; hypomagnesemia caused by selective magnesium malabsorption; hypomagnesemia intestinal type 1; hypomagnesemic tetany; intestinal hypomagnesemia with secondary hypocalcemia [-]	A hypomagnesemia characterized by very low serum m..[+] A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. [-]
ITM2B-related cerebral amyloid angiopathy 1	Presenile Dementia with Spastic Ataxia; Cerebral A.. [+] Presenile Dementia with Spastic Ataxia; Cerebral Amyloid Angiopathy, British Type; Familial British Dementia; FBD [-]	A cerebral amyloid angiopathy characterized by ons..[+] A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14. [-]
autosomal dominant intellectual developmental disorder 38	psychomotor retardation, epilepsy, and language di.. [+] psychomotor retardation, epilepsy, and language disability syndrome; PRELDS; autosomal dominant mental retardation 38; MRD38; autosomal dominant non-syndromic intellectual disability 38 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. [-]
familial partial lipodystrophy type 3	PPARG-related FPLD; PPARG-related familial partial.. [+] PPARG-related FPLD; PPARG-related familial partial lipodystrophy; familial partial lipodystrophy associated with PPARG mutations; FPLD3 [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. [-]
familial partial lipodystrophy type 4	PLIN1-related FPLD; PLIN1-related familial partial.. [+] PLIN1-related FPLD; PLIN1-related familial partial lipodystrophy; familial partial lipodystrophy associated with PLIN1 mutations; FPLD4 [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. [-]
hereditary lymphedema I	PCL; congenital primary lymphedema; LMPH1; Nonne-M.. [+] PCL; congenital primary lymphedema; LMPH1; Nonne-Milroy lymphedema; Milroy disease; hereditary lymphedema type I [-]	A hereditary lymphedema characterized by autosomal..[+] A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. [-]
intrahepatic cholestasis of pregnancy	pregnancy related cholestasis; gravidic intrahepat.. [+] pregnancy related cholestasis; gravidic intrahepatic cholestasis; ICP; recurrent intrahepatic cholestasis of pregnancy [-]	An intrahepatic cholestasis characterized by rever..[+] An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. [-]
intrahepatic cholestasis of pregnancy 1	pregnancy related cholestasis 1; ICP1	An intrahepatic cholestasis of pregnancy character..[+] An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. [-]
intrahepatic cholestasis of pregnancy 3	pregnancy related cholestasis 3; ICP3	An intrahepatic cholestasis of pregnancy character..[+] An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21. [-]
multiple epiphyseal dysplasia 4	Polyepiphyseal dysplasia type 4; MED4; multiple ep.. [+] Polyepiphyseal dysplasia type 4; MED4; multiple epiphyseal dysplasia with clubfoot; rMED; EDM4; multiple epiphyseal dysplasia with bilateral patellae [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. [-]
multiple epiphyseal dysplasia 1	polyepiphyseal dysplasia type 1; EDM1; MED1; multi.. [+] polyepiphyseal dysplasia type 1; EDM1; MED1; multiple epiphyseal dysplasia COMP-related [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. [-]
childhood hepatocellular carcinoma	pediatric hepatocellular carcinoma	A hepatocellular carcinoma that occurs in children..[+] A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma. [-]
childhood acute myeloid leukemia	pediatric acute myeloid leukemia; paediatric acute.. [+] pediatric acute myeloid leukemia; paediatric acute myeloid leukaemia; childhood acute myeloid leukaemia [-]	A childhood leukemia that is characterized by the ..[+] A childhood leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. [-]
bradyopsia 1	prolonged electroretinal response suppression 1	A braydopsia that has_material_basis_in homozygous..[+] A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24. [-]
bradyopsia 2	prolonged electroretinal response suppression 2	A braydopsia that has_material_basis_in homozygous..[+] A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13. [-]
early onset progressive encephalopathy with brain atrophy and thin corpus callosum	PEBAT; early-onset progressive encephalopathy with.. [+] PEBAT; early-onset progressive encephalopathy with brain atrophy and thin corpus callosum [-]	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25. [-]
North Carolina macular dystrophy	progressive foveal dystrophy; central areolar pigm.. [+] progressive foveal dystrophy; central areolar pigment epithelial dystrophy; central retinal pigment epithelial dystrophy; MCDR1; NCMD; retinal macular dystrophy 1 [-]	A retinal macular dystrophy characterized by limit..[+] A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. [-]
classic dopamine transporter deficiency syndrome	PKDYS1; classic DTDS; infantile parkinsonism-dysto.. [+] PKDYS1; classic DTDS; infantile parkinsonism-dystonia 1 [-]	A dopamine transporter deficiency syndrome charact..[+] A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. [-]
infantile parkinsonism-dystonia 2	PKDYS2; Brain dopamine-serotonin vesicular transpo.. [+] PKDYS2; Brain dopamine-serotonin vesicular transport disease [-]	A movement disease characterized by parkinsonism, ..[+] A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3. [-]
chromosome 16p11.2 deletion syndrome, 593-kb	Proximal 16p11.2 microdeletion syndrome	A chromosomal deletion syndrome characterized by l..[+] A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb). [-]
early-onset vitamin B6-dependent epilepsy 4	PDE-ALDH7A1; AASA dehydrogenase deficiency; antiqu.. [+] PDE-ALDH7A1; AASA dehydrogenase deficiency; antiquitin deficiency; EPEO4 [-]	A pyridoxine-dependent epilepsy that has_material_..[+] A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. [-]
Nagashima-type palmoplantar keratosis	palmoplantar keratoderma nagashima type; PPKN; NPP.. [+] PPKN; palmoplantar keratoderma nagashima type; NPPK [-]	A nonepidermolytic palmoplantar keratoderma charac..[+] A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33. [-]
metaphyseal dysplasia	Pyle's disease; Pyle-Cohn syndrome; Bakwin-Krida s.. [+] Pyle-Cohn syndrome; Pyle's disease; Bakwin-Krida syndrome [-]	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone. [-]
Albright's hereditary osteodystrophy	pseudohypoparathyroidism type 1a; Albright heredit.. [+] pseudohypoparathyroidism type 1a; Albright hereditary osteodystrophy [-]	An pseudohypoparathyroidism that has_material_basi..[+] An pseudohypoparathyroidism that has_material_basis_in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face. [-]
mucolipidosis III alpha/beta	pseudo-Hurler polydystrophy; mucolipidosis III	A mucolipidosis that has_material_basis_in mutatio..[+] A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase. [-]	1 articles
Alpers-Huttenlocher syndrome	progressive sclerosing poliodystrophy; Alpers dise.. [+] progressive sclerosing poliodystrophy; Alpers disease; Alpers progressive infantile poliodystrophy; Alpers syndrome; Alpers-Huttenlocher syndrome; Alpers' disease or gray-matter degeneration; Diffuse Cerebral Sclerosis of Schilder; mitochondrial DNA depletion syndrome 4a; Alper's syndrome [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26. [-]
mitochondrial DNA depletion syndrome 11	progressive external ophthalmoplegia-myopathy-emac.. [+] progressive external ophthalmoplegia-myopathy-emaciation syndrome [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11. [-]
thiopurine S-methyltransferase deficiency	poor metabolism of thiopurines-1; TPMT deficiency; .. [+] poor metabolism of thiopurines-1; TPMT deficiency [-]	An inherited metabolic disease that is characteriz..[+] An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. [-]
malignant pheochromocytoma	Pheochromocytoma, malignant	An adrenal medulla cancer that arises within the a..[+] An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones. [-]
congenital disorder of glycosylation Ia	PMM2-congenital disorder of glycosylation; congeni.. [+] PMM2-congenital disorder of glycosylation; congenital disorder of glycosylation 1a [-]	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13. [-]
Heimler syndrome 1	peroxisomal biogenesis disorder 1C; Deafness-ename.. [+] peroxisomal biogenesis disorder 1C; Deafness-enamel hypoplasia-nail defects syndrome [-]	A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. [-]
Heimler syndrome 2	peroxisomal biogenesis disorder 4C	A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21. [-]
B-lymphoblastic leukemia/lymphoma	precursor B lymphoblastic lymphoma/leukemia; B lym.. [+] precursor B lymphoblastic lymphoma/leukemia; B lymphoblastic leukemia/lymphoma; B-ALL [-]	A B-cell acute lymphoblastic leukemia that is char..[+] A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. [-]
multisystem inflammatory syndrome in children	paediatric inflammatory multisystemic syndrome; MI.. [+] paediatric inflammatory multisystemic syndrome; MIS-C; multisystem inflammatory disorder in children and adolescents [-]	A Coronavirus infectious disease that is character..[+] A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19. [-]
congenital myopathy 6	proximal myopathy and ophthalmoplegia; inclusion b.. [+] proximal myopathy and ophthalmoplegia; inclusion body myopathy 3 [-]	A congenital myopathy that is characterized by chi..[+] A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. [-]
early-onset vitamin B6-dependent epilepsy 1	PDE-PLPBP; early-onset vitamin B6-dependent epilep.. [+] PDE-PLPBP; early-onset vitamin B6-dependent epilepsy; EPEO1 [-]	A pyridoxine-dependent epilepsy that has_material_..[+] A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. [-]
lung sarcomatoid carcinoma	pulmonary sarcomatoid carcinoma; Sarcomatoid carci.. [+] pulmonary sarcomatoid carcinoma; Sarcomatoid carcinoma of the lung [-]	A lung carcinoma that is characterized by the pres..[+] A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. [-]
childhood acute megakaryoblastic leukemia	pediatric non-Down syndrome acute megakaryoblastic.. [+] pediatric non-Down syndrome acute megakaryoblastic leukemia [-]	An acute megakaryocytic leukemia that is character..[+] An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. [-]
childhood low-grade glioma	pediatric low-grade glioma	A low-grade glioma that occurs in children and enc..[+] A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology. [-]
long COVID	PASC; post-acute sequelae of SARS-CoV-2 infection; .. [+] post-acute sequelae of SARS-CoV-2 infection; PASC; post-COVID syndrome; chronic COVID-19 [-]	A Coronavirus infectious disease that is character..[+] A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia. [-]
immunoglobulin light chain amyloidosis	Primary systemic amyloidosis; Primary systemic AL .. [+] Primary systemic amyloidosis; Primary systemic AL amyloidosis; Primary AL amyloidosis; AL amyloidosis; Light chain amyloidosis; Amyloidosis primary systemic; Systemic AL amyloidsis [-]	An amyloidosis that is characterized by misfolded ..[+] An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. [-]
B-cell prolymphocytic leukemia	Prolymphocytic leukemia, B-cell type; B Cell Proly.. [+] Prolymphocytic leukemia, B-cell type; B Cell Prolymphocytic Leukemia [-]	A prolymphocytic leukemia that is characterized by..[+] A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood. [-]
T-cell prolymphocytic leukemia	Prolymphocytic leukemia, T-cell type; T Cell Proly.. [+] Prolymphocytic leukemia, T-cell type; T Cell Prolymphocytic Leukemia [-]	A prolymphocytic leukemia that is characterized by..[+] A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. [-]
DICER1 syndrome	PPB familial tumor susceptibility syndrome; Pleuro.. [+] PPB familial tumor susceptibility syndrome; Pleuropulmonary blastoma familial tumor susceptibility syndrome; Pleuro-pulmonary blastoma familial tumor susceptibility syndrome; Pleuro-pulmonary blastoma familial tumor susceptibility [-]	A syndrome that is characterized by an increased r..[+] A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. [-]
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	Pascual-Castroviejo syndrome; Cerebro-facio-thorac.. [+] Pascual-Castroviejo syndrome; Cerebro-facio-thoracic dysplasia; Cerebrofaciothoracic dysplasia; TMCO1 defect syndrome [-]	A syndrome that is characterized by abnormal devel..[+] A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. [-]	1 articles
Wiedemann-Rautenstrauch syndrome	PROGEROID SYNDROME, NEONATAL; Neonatal progeroid s.. [+] PROGEROID SYNDROME, NEONATAL; Neonatal progeroid syndrome [-]	A progeroid syndrome that is characterized by intr..[+] A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. [-]
Nestor-Guillermo progeria syndrome	Progeria syndrome, childhood-onset, with osteolysi.. [+] Progeria syndrome, childhood-onset, with osteolysis [-]	A progeroid syndrome that is characterized by lipo..[+] A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age. [-]

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