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Disease	Synonyms	Description	Articles
familial hyperinsulinemic hypoglycemia 5	hyperinsulinism due to INSR deficiency; hyperinsul.. [+] hyperinsulinism due to INSR deficiency; hyperinsulinemic hypoglycemia due to insulin receptor deficiency; hyperinsulinemic hypoglycemia due to INSR deficiency; HHF5 [-]	A hyperinsulinemic hypoglycemia characterized by a..[+] A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. [-]
primary coenzyme Q10 deficiency 2	hearing loss-encephaloneuropathy-obesity-valvulopa.. [+] hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome; COQ10D2; deafness-encephaloneuropathy-obesity-valvulopathy syndrome; coenzyme Q10 deficiency, primary, 2 [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. [-]
X-linked Emery-Dreifuss muscular dystrophy 1	humeroperoneal neuromuscular disease; EDMD1; EMD1; .. [+] humeroperoneal neuromuscular disease; EDMD1; EMD1; Emery-Dreifuss muscular dystrophy 1, X-linked; muscular dystrophy, tardive, Dreifuss-Emery type, with contractures; scapuloperoneal syndrome, X-linked [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. [-]
autosomal dominant Emery-Dreifuss muscular dystrophy 2	Hauptmann-Thannhauser muscular dystrophy; autosoma.. [+] Hauptmann-Thannhauser muscular dystrophy; autosomal dominant limb-girdle muscular dystrophy type 1B; EDMD2; EMD2; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Emery-Dreifuss muscular dystrophy, autosomal dominant; muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant; scapuloilioperoneal atrophy with cardiopathy [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. [-]
Lynch syndrome 1	HNPCC1; hereditary nonpolyposis colorectal cancer .. [+] HNPCC1; hereditary nonpolyposis colorectal cancer type 1; familial nonpolyposis colon cancer type 1; FCC1 [-]	A Lynch syndrome that has_material_basis_in hetero..[+] A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16. [-]
vertebral anomalies and variable endocrine and T-cell dysfunction	heterozygotes for TBX2 variants	A syndrome that has_material_basis_in heterozygous..[+] A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments. [-]
Borrelia miyamotoi disease	hard tick-borne relapsing fever; BMD	A primary bacterial infectious disease that has_ma..[+] A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses. [-]
syndromic X-linked intellectual developmental disorder bain type	HNRNPH2-RNDD; HNRNPH2-related neurodevelopmental d.. [+] HNRNPH2-RNDD; HNRNPH2-related neurodevelopmental disorder; Mental Retardation, X-linked, Syndrome, Bain Type; MRXSB [-]	A syndromic X-linked syndromic intellectual disabi..[+] A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1. [-]
3-hydroxy-3-methylglutaryl-CoA lyase deficiency	HMGCLD; hydroxymethylglutaric aciduria; HMGCL defi.. [+] hydroxymethylglutaric aciduria; HMGCLD; HMGCL deficiency; HMG-CoA lyase deficiency; HL deficiency; 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11. [-]
Charcot-Marie-Tooth disease type 5	hereditary motor and sensory neuropathy with pyram.. [+] hereditary motor and sensory neuropathy with pyramidal features [-]	A Charcot-Marie-Tooth disease that is characterize..[+] A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait. [-]
Charcot-Marie-Tooth disease type 6	hereditary motor and sensory neuropathy type 6	A Charcot-Marie-Tooth disease that is characterize..[+] A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. [-]
nonsyndromic congenital nail disorder 4	HYPONYCHIA CONGENITA; anonychia congenita	A nonsyndromic congenital nail disorder that is ch..[+] A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13. [-]
Marinesco-Sjogren syndrome	hereditary oligophrenic cerebello-lental degenerat.. [+] hereditary oligophrenic cerebello-lental degeneration; Garland-Moorhouse syndrome; Marinesco-Garland syndrome; Oligophrenic cerebellolenticular degeneration [-]	A syndrome characterized by congenital cataracts, ..[+] A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. [-]
X-linked chondrodysplasia punctata 2	Happle syndrome; Conradi-Hunermann Syndrome	A chondrodysplasia puncata that has_material_basis..[+] A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. [-]
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia	hereditary diffuse leukoencephalopathy with sphero.. [+] hereditary diffuse leukoencephalopathy with spheroids [-]	A leukodystrophy that is characterized by progress..[+] A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32. [-]
diaphyseal medullary stenosis with malignant fibrous histiocytoma	Hardcastle syndrome; bone dysplasia-medullary fibr.. [+] Hardcastle syndrome; bone dysplasia-medullary fibrosarcoma syndrome; diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome [-]	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. [-]
GNE myopathy	Hereditary Inclusion Body Myopathy; Distal Myopath.. [+] Hereditary Inclusion Body Myopathy; Distal Myopathy with Rimmed Vacuoles; Distal myopathy, Nonaka type; inclusion body myopathy 2; Nonaka myopathy [-]	A myopathy that is characterized by progressive sk..[+] A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. [-]
immunoglobulin heavy chain amyloidosis	Heavy chain amyloidosis; AH amyloidosis; Amyloidos.. [+] Heavy chain amyloidosis; AH amyloidosis; Amyloidosis derived from immunoglobulin heavy chain; Ig heavy-chain–associated amyloidosis [-]	An amyloidosis that is characterized by the aggreg..[+] An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. [-]
Catel Manzke syndrome	Hyperphalangy-clinodactyly of index finger with Pi.. [+] Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Micrognathia digital syndrome [-]	A bone disease that is characterized by the Pierre..[+] A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. [-]
Paget's disease of bone 5	Hyperostosis corticalis deformans juvenilis; Hered.. [+] Hyperostosis corticalis deformans juvenilis; Hereditary hyperphosphatasia; Familial osteoectasia; Juvenile Paget disease; Paget disease of bone-5 [-]	A Paget's disease of bone that is characterized by..[+] A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. [-]
Tietz syndrome	hypopigmentation/deafness of Tietz; Tietz albinism.. [+] hypopigmentation/deafness of Tietz; Tietz albinism-deafness syndrome; albinism-deafness of Tietz [-]	A syndrome that is characterized by congenital pro..[+] A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. [-]
autosomal dominant familial periodic fever	hibernian fever; familial hibernian fever; tumor n.. [+] hibernian fever; familial hibernian fever; tumor necrosis factor receptor 1 associated periodic syndrome; familial Hibernian fever; TNF receptor 1-associated periodic syndrome; FHF; FPF; TNF receptor associated periodic syndrome; TRAPS; tumor necrosis factor receptor associated periodic syndrome [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. [-]
BH4-deficient hyperphenylalaninemia A	hyperphenylalaninemia due to 6-pyruvoyltetrahydrop.. [+] hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; HPABH4A; 6-pyruvoyl-tetrahydropterin synthase deficiency; PTS deficiency; tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency [-]	A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+] A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. [-]
autosomal dominant hypocalcemia 1	HYPOC1	An autosomal dominant hypocalcemia disease that ha..[+] An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21. [-]
autosomal dominant hypocalcemia 2	HYPOC2	An autosomal dominant hypocalcemia that has_materi..[+] An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13. [-]
autosomal dominant hypocalcemia	HYPOC	A metal metabolism disorder characterized by autos..[+] A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone. [-]	1 articles
Sorsby's fundus dystrophy	hemorrhagic macular dystrophy; pseudoinflammatory .. [+] hemorrhagic macular dystrophy; pseudoinflammatory fundus dystrophy of Sorsby; SFD [-]	A hereditary retinal dystrophy that is characteriz..[+] A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12. [-]
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	Hay-Wells syndrome; AEC syndrome; ankyloblepharon-.. [+] Hay-Wells syndrome; AEC syndrome; ankyloblepharon-ectodermal defects-cleft lip and palate syndrome [-]	An ectodermal dysplasia that is characterized by a..[+] An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. [-]
aromatase excess syndrome	hereditary prepubertal gynecomastia; AEXS; familia.. [+] hereditary prepubertal gynecomastia; AEXS; familial hyperestrogenism; increased aromatase activity [-]	A reproductive system disease characterized by inc..[+] A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. [-]
carnitine palmitoyltransferase I deficiency	hepatic carnitine palmitoyl transferase I deficien.. [+] hepatic carnitine palmitoyl transferase I deficiency; hepatic CPT deficiency type I; hepatic carnitine palmitoyl transferase 1 deficiency; carnitine palmitoyl transferase 1A deficiency; CPT I deficiency; CPT1A deficiency; carnitine palmitoyl transferase IA deficiency; L-CPT1 deficiency [-]	A lipid metabolism disorder that is characterized ..[+] A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. [-]
Donnai-Barrow syndrome	Holmes-Schepens syndrome; diaphragmatic hernia-exo.. [+] Holmes-Schepens syndrome; diaphragmatic hernia-exomphalos-hypertelorism syndrome; diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; facio-oculo-acoustico-renal syndrome; syndrome of ocular and facial anomalies, telecanthus and deafness; FOAR syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; faciooculoacousticorenal syndrome; DBS/FOAR syndrome [-]	A syndrome that is characterized by facial and ocu..[+] A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. [-]
amelogenesis imperfecta type 1B	hereditary localized enamel hypoplasia; AI1B; amel.. [+] hereditary localized enamel hypoplasia; AI1B; amelogenesis imperfecta type IB; AIH2; autosomal dominant hypoplastic local amelogenesis imperfecta [-]	An amelogenesis imperfecta that has_material_basis..[+] An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. [-]
Bartter disease type 1	hypokalemic alkalosis with hypercalciuria 1 antena.. [+] hypokalemic alkalosis with hypercalciuria 1 antenatal; hyperprostaglandin E syndrome 1; BARTS1; Bartter syndrome type 1; Bartter syndrome type 1 antenatal [-]	A Bartter disease that has_material_basis_in homoz..[+] A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. [-]	1 articles
Bartter disease type 2	hypokalemic alkalosis with hypercalciuria 2 antena.. [+] hypokalemic alkalosis with hypercalciuria 2 antenatal; hyperprostaglandin E syndrome 2; BARTS2; Bartter syndrome type 2; Bartter syndrome type 2 antenatal [-]	A Bartter disease that has_material_basis_in homoz..[+] A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. [-]	1 articles
Charcot-Marie-Tooth disease type 1A	HMSN1A; hereditary motor and sensory neuropathy 1A.. [+] HMSN1A; hereditary motor and sensory neuropathy 1A; autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A; CMT1A; Charcot-Marie-Tooth neuropathy type 1A; microduplication 17p12 [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). [-]
Charcot-Marie-Tooth disease type 1D	hereditary motor and sensory neuropathy 1D; HMSN1D.. [+] hereditary motor and sensory neuropathy 1D; HMSN1D; HMSN ID; Charcot-Marie-Tooth neuropathy type 1D; CMT1D [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). [-]
Charcot-Marie-Tooth disease type 1C	HMSN IC; HMSN1C; Charcot-Marie-Tooth neuropathy ty.. [+] HMSN1C; HMSN IC; Charcot-Marie-Tooth neuropathy type 1C; CMT1C; neuropathy hereditary motor and sensory type 1C; CMT slow nerve conduction type C [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. [-]
Charcot-Marie-Tooth disease type 1B	HMSN IB; HMSN1B; hereditary motor and sensory neur.. [+] HMSN1B; HMSN IB; hereditary motor and sensory neuropathy IB; autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B; Charcot-Marie-Tooth neuropathy type 1B; CMT1B; peroneal muscular atrophy; Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). [-]	1 articles
Charcot-Marie-Tooth disease type 2A1	HMSN IIA1; HMSN2A1; hereditary motor and sensory n.. [+] HMSN2A1; HMSN IIA1; hereditary motor and sensory neuropathy IIA1; autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1; Charcot-Marie-Tooth disease neuronal type 2A1; CMT2A1; Charcot-Marie-Tooth neuropathy type 2A1 [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. [-]
Charcot-Marie-Tooth disease type 2A2A	HMSN IIA2; HMSN2A2; hereditary motor and sensory n.. [+] HMSN2A2; HMSN IIA2; hereditary motor and sensory neuropathy IIA2; autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth neuropathy type 2A2; CMT2A2; Charcot-Marie-Tooth neuronal type 2A2; CMT2A2A [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22. [-]
Charcot-Marie-Tooth disease type 2B	hereditary motor and sensory nueropathy IIB; HMSN2.. [+] hereditary motor and sensory nueropathy IIB; HMSN2B; HMSN IIB; Charcot-Marie-Tooth neuropathy type 2B; CMT2B; autosomal dominant Charcot-Marie-Tooth disease type 2B [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. [-]	1 articles
Charcot-Marie-Tooth disease axonal type 2C	HMSN2C; hereditary motor and sensory neuropathy ty.. [+] HMSN2C; hereditary motor and sensory neuropathy type IIc; autosomal dominant Charcot-Marie-Tooth disease type 2C; Charcot-Marie-Tooth neuropathy type 2C; CMT2C; autosomal cominant axonal Charcot-Marie-Tooth disease type 2C [-]	A Charcot-Marie-Tooth disease type 2 that has_mate..[+] A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. [-]
Charcot-Marie-Tooth disease type 4D	HMSN Lom type; HMSNL; hereditary motor abd sensory.. [+] HMSNL; HMSN Lom type; hereditary motor abd sensory neuropathy LOM type; HMSN4D; HMSN-Lom; hereditary motor and sensory neuropathy LOM type; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D; CMT4D; Charcot-Marie-Tooth neuropathy type 4D [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24. [-]
Charcot-Marie-Tooth disease type 4G	HMSNR; hereditary motor and sensory neuropathy Rus.. [+] HMSNR; hereditary motor and sensory neuropathy Russe type; autosomal recessive Charcot-Marie-Tooth disease type 4G; CMT4G; Charcot-Marie-Tooth neuropathy type 4G [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22. [-]
autosomal recessive nonsyndromic deafness 32	hearing impairment infertile male syndrome; HIIMS; .. [+] HIIMS; hearing impairment infertile male syndrome; autosomal recessive deafness 32; DFNB32; autosomal recessive deafness 105 [-]	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affected men that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21.2. [-]
autosomal dominant nonsyndromic deafness 1	hereditary low frequency hearing loss 1; autosomal.. [+] hereditary low frequency hearing loss 1; autosomal dominant deafness 1; DFNA1; Konigsmark syndrome; autosomal dominant deafness 1, with or without thrombocytopenia; LFHL1 [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. [-]
congenital hypotrichosis with juvenile macular dystrophy	Hjmd; hypotrichosis with cone-rod dystrophy	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1. [-]
neurodegeneration with brain iron accumulation 3	Hereditary ferritinopathy; Adult basal ganglia dis.. [+] Hereditary ferritinopathy; Adult basal ganglia disease; Ferritin-related neurodegeneration; Neuroferritinopathy; NBIA3; Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. [-]
congenital stationary night blindness 1A	hemeralopia-myopia; congenital stationary night bl.. [+] hemeralopia-myopia; congenital stationary night blindness 1A X-linked; congenital stationary night blindness with myopia; CSNB1A; myopia-night blindness; NBMI; complete CSNB X-linked [-]	A congenital stationary night blindness that has_m..[+] A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. [-]
infantile hypophosphatasia	Hops; phosphoethanolaminuria	A hypophosphatasia that has_material_basis_in homo..[+] A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36. [-]

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