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Disease	Synonyms	Description
Griscelli syndrome	ChÃ©diak-Higashi-like syndrome; Griscelli-PruniÃ©r.. [+] ChÃ©diak-Higashi-like syndrome; Griscelli-PruniÃ©ras syndrome; partial albinism-immunodeficiency syndrome [-]	An autosomal recessive disease characterized by si..[+] An autosomal recessive disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. [-]
hereditary neuropathy with liability to pressure palsies	current pressure-sensitive neuropathy; familial re.. [+] current pressure-sensitive neuropathy; familial recurrent polyneuropathy; heterozygous microdeletion 17p11.2p12; HNPP; potato-grubbing palsy; tomaculous neuropathy; tulip-bulb digger's palsy [-]	A neuropathy characterized by autosomal dominant i..[+] A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. [-]
Potocki-Luspski syndrome	chromosome 17p11.2 duplication syndrome; 17p11.2 m.. [+] chromosome 17p11.2 duplication syndrome; 17p11.2 microduplication syndrome; trisomy 17p11.2 [-]	A chromosomal duplication syndrome characterized b..[+] A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2. [-]
hypotonia-cystinuria syndrome	cystinuria with mitochondrial disease	A syndrome that has_material_basis_in homozygous d..[+] A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. [-]
leukoencephalopathy with vanishing white matter	CLE; Cree leukoencephalopathy; CACH/VWM; childhood.. [+] CACH/VWM; Cree leukoencephalopathy; CLE; childhood ataxia with central nervous system hypomyelination; CACH; vanishing white matter leukodystrophy; ovarioleukodystrophy [-]	A leukodystrophy characterized by variable neurolo..[+] A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. [-]
isolated growth hormone deficiency	congenital isolated growth hormone deficiency; con.. [+] congenital isolated growth hormone deficiency; congenital isolated GH deficiency; congenital IGHD; familial isolated growth hormone deficiency; IGHD; non-acquired isolated growth hormone deficiency [-]	A hypopituitarism characterized by abnormally low ..[+] A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. [-]
isolated growth hormone deficiency type II	congenital isolated growth hormone deficiency type.. [+] congenital isolated growth hormone deficiency type II; congenital isolated GH deficiency type II; congenital IGHD type II; autosomal dominant isolated growth hormone deficiency; autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency; IGHD II [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. [-]
isolated growth hormone deficiency type IB	congenital isolated growth hormone deficiency type.. [+] congenital isolated growth hormone deficiency type IB; congenital isolated GH deficiency type IB; congenital IGHD type IB; dwarfism of Sindh; IGHD IB [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. [-]
isolated growth hormone deficiency type III	congenital isolated growth hormone deficiency type.. [+] congenital isolated growth hormone deficiency type III; congenital isolated GH deficiency type III; congenital IGHD type III; Fleisher syndrome; growth hormone deficiency with hypogammaglobulinemia; IGHD III; X-linked agammaglobulinemia and isolated growth hormone deficiency; X-linked hypogammaglobulinemia and isolated growth hormone deficiency; X-linked IGHD; X-linked isolated growth hormone deficiency [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material_basis_in mutation in the BTK gene on chromosome Xq22.1. [-]
ectopic Cushing syndrome	Cushing syndrome due to ectopic ACTH secretion; ec.. [+] Cushing syndrome due to ectopic ACTH secretion; ectopic ACTH secreting tumor [-]	A primary hyperaldosteronism that is characterized..[+] A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone. [-]
APP-related cerebral amyloid angiopathy	Cerebral Amyloid Angiopathy, App-Related, Italian .. [+] Cerebral Amyloid Angiopathy, App-Related, Italian Variant; Cerebral Amyloid Angiopathy, App-Related, Iowa Variant; Cerebral Amyloid Angiopathy, App-Related, Flemish Variant; Cerebral Amyloid Angiopathy, App-Related, Dutch Variant; Cerebral Amyloid Angiopathy, App-Related, Arctic Variant; Amyloidosis, Cerebroarterial, App-Related; Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant; HCHWAD [-]	A cerebral amyloid angiopathy that has_material_ba..[+] A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. [-]
ITM2B-related cerebral amyloid angiopathy 1	Cerebral Amyloid Angiopathy, British Type; Familia.. [+] Cerebral Amyloid Angiopathy, British Type; Familial British Dementia; FBD; Presenile Dementia with Spastic Ataxia [-]	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 an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. [-]
ITM2B-related cerebral amyloid angiopathy 2	Cerebellar Ataxia, Cataract, Deafness, and Dementi.. [+] Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis; Familial Danish Dementia; FDD; Heredopathia Ophthalmootoencephalica; HOOE [-]	A cerebral amyloid angiopathy characterized by ata..[+] A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. [-]
Kleefstra Syndrome	chromosome 9q34.3 deletion syndrome; 9q subtelomer.. [+] chromosome 9q34.3 deletion syndrome; 9q subtelomeric deletion syndrome; 9q-syndrome [-]	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3. [-]
Koolen-De Vries syndrome	chromosome 17q21.31 deletion syndrome; microdeleti.. [+] chromosome 17q21.31 deletion syndrome; microdeletion 17q21.31 syndrome [-]	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KANSL1 on chromosome 17q21.31. [-]
schizophrenia 18	Chromosome 7q36.3 Duplication Syndrome, 362-Kb; SC.. [+] Chromosome 7q36.3 Duplication Syndrome, 362-Kb; SCZD18 [-]	A schizophrenia that has_material_basis_in a mutat..[+] A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2. [-]
autosomal recessive cutis laxa type III	cutis laxa-corneal clouding-intellectual disabilit.. [+] cutis laxa-corneal clouding-intellectual disability syndrome; De Barsy syndrome [-]	A cutis laxa characterized by a progeria-like appe..[+] A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. [-]
autosomal recessive chronic granulomatous disease 3	chronic granulomatous disease due to NCF4 deficien.. [+] chronic granulomatous disease due to NCF4 deficiency; CDG3; autosomal recessive chronic granulomatous disease cytochrome b-positive type III; autosomal recessive cytochrome b-positive CGD type III [-]	A chronic granulomatous disease characterized by t..[+] A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. [-]
familial partial lipodystrophy type 5	CIDEC-related FPLD; familial partial lipodystrophy.. [+] CIDEC-related FPLD; familial partial lipodystrophy associated with CIDEC mutations; FPLD5 [-]	A familial partial lipodystrophy characterized by ..[+] A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. [-]
primary coenzyme Q10 deficiency 3	COQ10D3; coenzyme Q10 deficiency, primary, 3	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. [-]
primary coenzyme Q10 deficiency 7	COQ10D7; COQ4-related neonatal encephalomyopathy; .. [+] COQ4-related neonatal encephalomyopathy; COQ10D7; coenzyme Q10 deficiency, primary, 7; neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. [-]
epithelial recurrent erosion dystrophy	COL17A1; ERED	An epithelial and subepithelial dystrophy that is ..[+] An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity. [-]
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures	CONDSIAS	A neurodegenerative disease characterized by varia..[+] A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speach, hearing loss, and cerebellar atrophy. [-]
dysbaric osteonecrosis	Caisson disease of bone; DON	An ischemic bone disease the has_material_basis_in..[+] An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone. [-]
otospondylomegaepiphyseal dysplasia	CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS; NANC.. [+] CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS; NANCE-INSLEY SYNDROME; NANCE-SWEENEY CHONDRODYSPLASIA [-]	An osteochondrodysplasia that results from mutatio..[+] An osteochondrodysplasia that results from mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. [-]
T-cell childhood lymphoblastic lymphoma	Childhood T lymphoblastic lymphoma	A lymphoblastic lymphoma that has_material_basis_i..[+] A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood. [-]
X-linked adrenal hypoplasia congenita	congenital adrenal hypoplasia	An adrenal cortical hypofunction that is character..[+] An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene. [-]
superior semicircular canal dehiscence	canal dehiscence syndrome; minorâ€™s syndrome; sup.. [+] canal dehiscence syndrome; minorâ€™s syndrome; superior canal dehiscence; superior canal syndrome; superior semicircular canal dehiscence syndrome; third mobile window syndrome [-]	An inner ear disease characterized by dehiscence i..[+] An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. [-]
laryngomalacia	congenital laryngomalacia	A laryngeal disease that is characterized by inwar..[+] A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. [-]
long COVID	chronic COVID-19; PASC; post-acute sequelae of SAR.. [+] chronic COVID-19; PASC; post-acute sequelae of SARS-CoV-2 infection; post-COVID syndrome [-]	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. [-]
astroblastoma, MN1-altered	CNS high-grade neuroepithelial tumors with MN1 alt.. [+] CNS high-grade neuroepithelial tumors with MN1 alteration [-]	An astroblastoma that is characterized by astrobla..[+] An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. [-]
Tukel syndrome	congenital fibrosis of the extraocular muscles 4	A congenital fibrosis of the extraocular muscles t..[+] A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left. [-]
blastic plasmacytoid dendritic cell neoplasm	CD4+/CD56+ Hematodermic Neoplasm; Agranular CD4+ C.. [+] CD4+/CD56+ Hematodermic Neoplasm; Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor; Agranular CD4+ Natural Killer Cell Leukemia; Blastic Natural Killer Leukemia/Lymphoma; Blastic NK-Cell Lymphoma; natural killer (NK) cell leukemia/lymphoma [-]	An acute leukemia that is derived from the precurs..[+] An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes. [-]
Fraser syndrome	cryptophthalmos with other malformations	An autosomal recessive disease characterized by cr..[+] An autosomal recessive disease characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. [-]
agenesis of the corpus callosum with peripheral neuropathy	corpus callosum agenesis-neuronopathy syndrome; Ch.. [+] corpus callosum agenesis-neuronopathy syndrome; Charlevoix disease; Andermann syndrome [-]	A neurodegenerative disease characterized by autos..[+] A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. [-]
Schwartz-Jampel syndrome 1	Catel-Hempel type dysostosis enchondralis metaepip.. [+] Catel-Hempel type dysostosis enchondralis metaepiphysaria; Catel-Hempel syndrome; Aberfeld syndrome; Burton skeletal dysplasia; Burton syndrome; myotonic chondrodystrophy; myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; osteochondromuscular dystrophy; Schwartz-Jampel syndrome type 1; Schwartz-Jampel-Aberfeld syndrome [-]	An autosomal recessive disease characterized by ne..[+] An autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. [-]
renal coloboma syndrome	congenital anomalies of the kidney and urinary tra.. [+] congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; coloboma of optic nerve with renal disease; CAKUT with or without ocular abnormalities; optic coloboma, vesicoureteral reflux and renal anomalies; papillo-renal syndrome, optic nerve coloboma with renal disease; papillorenal syndrome; renal-coloboma syndrome with macular abnormalities [-]	A syndrome characterized by optic nerve coloboma a..[+] A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. [-]
split hand-foot malformation 1 with sensorineural hearing loss	congenital deafness with split hands and feet; SHF.. [+] congenital deafness with split hands and feet; SHFM1D [-]	A split-hand/foot malformation characterized by sp..[+] A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. [-]
split hand-foot malformation 3	chromosome 10q24 duplication syndrome; distal limb.. [+] chromosome 10q24 duplication syndrome; distal limb deficiencies with micrognathia; SHFM3 [-]	A split-hand/foot malformation that has_material_b..[+] A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24 [-]
hypogonadotropic hypogonadism	congenital idiopathic hypogonadotropic hypogonadis.. [+] congenital idiopathic hypogonadotropic hypogonadism; isolated congenital gonadotropin deficiency [-]	A hypogonadism characterized by a impaired signall..[+] A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone. [-]
spondylocarpotarsal synostosis syndrome	congenital synspondylism; congenital scoliosis wit.. [+] congenital synspondylism; congenital scoliosis with unilateral unsegmented bar; SCT; spondylocarpotarsal syndrome; spondylocarpotarsal synostosis; vertebral fusion with carpal coalition [-]	A bone development disease that is characterized b..[+] A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3. [-]
apparent mineralocorticoid excess	cortisol 11-beta-ketoreductase deficiency; 11-beta.. [+] cortisol 11-beta-ketoreductase deficiency; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; APE; Ulick syndrome [-]	An adrenal gland hyperfunction characterized by de..[+] An adrenal gland hyperfunction characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. [-]
brain small vessel disease 1	COL4A1-related familial vascular leukoencephalopat.. [+] COL4A1-related familial vascular leukoencephalopathy; COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome; COL4A1-related brain small vessel disease with hemorrhage; autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy; brain small vessel disease with Axenfeld-Riegar anomaly; brain small vessel disease with hemorrhage; brain small vessel disease with or without ocular anomalies; BSVD; infantile hemiparesis; leukoencephalopathy with Axenfeld-Riegar anomaly; BSVD1 [-]	A brain small vessel disease that is characterized..[+] A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. [-]
dilated cardiomyopathy with woolly hair and keratoderma	Carvajal syndrome; DCWHK; palmoplantar keratoderma.. [+] Carvajal syndrome; DCWHK; palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair [-]	An autosomal recessive disease characterized by au..[+] An autosomal recessive disease characterized by autosomal recessive inheritance of dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the DSP gene on chromosome 6p24. [-]
dopamine beta-hydroxylase deficiency	congenital dopamine beta-hydroxylase deficiency; n.. [+] congenital dopamine beta-hydroxylase deficiency; noradrenaline deficiency; norepinephrine deficiency [-]	An inherited metabolic disorder characterized by d..[+] An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in homozygous or compound heterozygous mutation in the DBH gene on chromosome 9q34. [-]
3-methylglutaconic aciduria type 3	Costeff optic atrophy syndrome; Costeff syndrome; .. [+] Costeff syndrome; Costeff optic atrophy syndrome; 3-methylglutaconic aciduria type III; autosomal recessive optic atrophy plus syndrome; autosomal recessive optic atrophy type 3; infantile optic atrophy with chorea and spastic paraplegia; Iraqi-Jewish optic atrophy plus; MGA3 [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. [-]
autoimmune lymphoproliferative syndrome type 2B	Caspase eight deficiency state; CEDS; Caspase 8 de.. [+] CEDS; Caspase eight deficiency state; Caspase 8 deficiency syndrome; Caspase 8 deficiency; ALPS with recurrent viral infections; ALPS2B; autoimmune lymphoproliferative syndrome type IIB; autoimmune lymphoproliferative syndrome with recurrent viral infections [-]	An autoimmune lymphoproliferative syndrome that ha..[+] An autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the CASP8 gene on chromosome 2q33. [-]
autoimmune lymphoproliferative syndrome type 3	common variable immunodeficiency 9; CVID9; ALPS3; .. [+] CVID9; common variable immunodeficiency 9; ALPS3; autoimmune lymphoproliferative syndrome type III [-]	An autoimmune lymphoproliferative syndrome that ha..[+] An autoimmune lymphoproliferative syndrome that has material basis in homozygous mutation in the PRKCD gene on chromosome 3p21. [-]
Bartter disease type 3	classic Bartter syndrome; BARTS3; Bartter syndrome.. [+] classic Bartter syndrome; BARTS3; Bartter syndrome type 3 [-]	A Bartter disease that has_material_basis_in homoz..[+] A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36. [-]
hypertrophic cardiomyopathy 1	cardiomyopathy, familial hypertrophic 1; CMH1; hyp.. [+] CMH1; cardiomyopathy, familial hypertrophic 1; hypertrophic cardiomyopathy 19 [-]	A familial hypertrophic cardiomyopathy that has_ma..[+] A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12. [-]

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