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Disease	Synonyms	Description	Articles
hypomyelinating leukodystrophy 5	hypomyelination-congenital cataract syndrome; HLD5.. [+] hypomyelination-congenital cataract syndrome; HLD5 [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. [-]
hypomyelinating leukodystrophy 7	hypomyelination-cerebellar atrophy-hypoplasia of t.. [+] hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome; HLD7; ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy; leukodystrophy with oligodontia; leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome; TACH syndrome; dentoleukoencephalopathy; tremor-ataxia-central hypomyelination syndrome [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. [-]
hypomyelinating leukodystrophy 13	HLD13	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14. [-]
hypomyelinating leukodystrophy 12	HLD12	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. [-]
hypomyelinating leukodystrophy 8	HLD8	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23. [-]
hypomyelinating leukodystrophy 6	hypomyelination with atrophy of basal ganglia and .. [+] hypomyelination with atrophy of basal ganglia and cerebellum; HLD6; hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum; HABC; H-ABC [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13. [-]
hereditary neuropathy with liability to pressure palsies	HNPP; heterozygous microdeletion 17p11.2p12; curre.. [+] heterozygous microdeletion 17p11.2p12; HNPP; current pressure-sensitive neuropathy; familial recurrent polyneuropathy; tomaculous neuropathy; potato-grubbing palsy; 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. [-]
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. [-]
hypoparathyroidism-deafness-renal disease syndrome	hypoparathyroidism, sensorineural deafness, and re.. [+] hypoparathyroidism, sensorineural deafness, and renal disease; HDR syndrome; Barakat syndrome [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. [-]
Helsmoortel-Van Der Aa Syndrome	HVDAS; autosomal dominant mental retardation 28; M.. [+] HVDAS; autosomal dominant mental retardation 28; MRD28 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13. [-]
hereditary sensory and autonomic neuropathy type 5	hereditary sensory and autonomic neuropathy type V.. [+] hereditary sensory and autonomic neuropathy type V; HSAN5 [-]	A hereditary sensory neuropathy characterized by i..[+] A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. [-]
hereditary sensory neuropathy type 4	hereditary sensory neuropathy type IV; insensitivi.. [+] hereditary sensory neuropathy type IV; insensitivity to pain, congenital, with anhidrosis [-]	A hereditary sensory neuropathy characterized by i..[+] A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. [-]	1 articles
hereditary sensory neuropathy type 2C	HSN2C; hereditary sensory neuropathy type IIC	A hereditary sensory and autonomic neuropathy type..[+] A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37 [-]
hereditary sensory neuropathy type 1B	HSAN with cough and gastroesophageal reflux; hered.. [+] HSAN with cough and gastroesophageal reflux; hereditary sensory neuropathy type IB [-]	A hereditary sensory neuropathy characterized by a..[+] A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22. [-]
hereditary sensory and autonomic neuropathy type 7	HSAN7; hereditary sensory and autonomic neuropathy.. [+] HSAN7; hereditary sensory and autonomic neuropathy type VII [-]	A hereditary sensory neuropathy characterized by i..[+] A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. [-]
hereditary sensory and autonomic neuropathy type 2B	HSAN2B; hereditary sensory and autonomic neuropath.. [+] HSAN2B; hereditary sensory and autonomic neuropathy type IIB [-]	A hereditary sensory and autonomic neuropathy type..[+] A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15. [-]
hereditary sensory and autonomic neuropathy type 6	HSAN6; hereditary sensory and autonomic neuropathy.. [+] HSAN6; hereditary sensory and autonomic neuropathy type VI [-]	A hereditary sensory neuropathy characterized by n..[+] A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12. [-]
hereditary sensory and autonomic neuropathy type 1A	HSAN1A; hereditary sensory and autonomic neuropath.. [+] HSAN1A; hereditary sensory and autonomic neuropathy type IA [-]	A hereditary sensory and autonomic neuropathy type..[+] A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. [-]
hereditary sensory and autonomic neuropathy type 8	HSAN8; hereditary sensory and autonomic neuropathy.. [+] HSAN8; hereditary sensory and autonomic neuropathy type VIII [-]	A hereditary sensory neuropathy characterized by c..[+] A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34. [-]	1 articles
hereditary sensory neuropathy type 1F	HSN1F; hereditary sensory neuropathy type IF	A hereditary sensory and autonomic neuropathy type..[+] A hereditary sensory and autonomic neuropathy type 1 characterized by sensory loss in the lower limbs developing in the second or third decade of life but absence of autonomic involvement that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. [-]
hereditary sensory and autonomic neuropathy type 2A	HSAN2A; hereditary sensory and autonomic neuropath.. [+] HSAN2A; hereditary sensory and autonomic neuropathy type IIA [-]	A hereditary sensory and autonomic neuropathy type..[+] A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13 [-]
hereditary sensory neuropathy type ID	HSN1D	A hereditary sensory and autonomic neuropathy type..[+] A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q. [-]
hereditary sensory and autonomic neuropathy type 1C	HSAN1C; hereditary sensory and autonomic neuropath.. [+] HSAN1C; hereditary sensory and autonomic neuropathy type IC [-]	A hereditary sensory and autonomic neuropathy type..[+] A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. [-]
hereditary sensory neuropathy type 1E	HSN1E; hereditary sensory neuropathy type IE	A hereditary sensory neuropathy characterized by a..[+] A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13. [-]
hereditary sensory neuropathy X-linked		A hereditary sensory neuropathy characterized by X..[+] A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. [-]
hereditary sensory and autonomic neuropathy type 2	HSAN2; hereditary sensory and autonomic neuropathy.. [+] HSAN2; hereditary sensory and autonomic neuropathy type II [-]	A hereditary sensory neuropathy characterized by p..[+] A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood. [-]
hereditary sensory and autonomic neuropathy type 1	HSAN1; hereditary sensory and autonomic neuropathy.. [+] HSAN1; hereditary sensory and autonomic neuropathy type I [-]	A hereditary sensory neuropathy characterized by s..[+] A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance. [-]
hereditary lymphedema IB	LMPH1B	A hereditary lymphedema characterized by autosomal..[+] A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1. [-]
hereditary lymphedema I	hereditary lymphedema type I; congenital primary l.. [+] hereditary lymphedema type I; congenital primary lymphedema; LMPH1; PCL; Nonne-Milroy lymphedema; Milroy disease [-]	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. [-]
hereditary lymphedema II	late-onset lymphedema; lymphedema preacox; Meige d.. [+] late-onset lymphedema; lymphedema preacox; Meige disease; Meige lymphedema; LMPH2 [-]	A hereditary lymphedema characterized by onset aro..[+] A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance. [-]
hereditary nonpolyposis colorectal cancer type 8	HNPCC8	A Lynch syndrome that has_material_basis_in hetero..[+] A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM. [-]
hypoplastic right heart syndrome	Right hypoplastic heart syndrome	A congenital heart disease characterized by underd..[+] A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect. [-]
hypomyelinating leukodystrophy 23	HLD23	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade of life. [-]
hypomyelinating leukodystrophy 15	HLD15	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41. [-]
hypomyelinating leukodystrophy 18	HLD18	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42. [-]
hypomyelinating leukodystrophy 19	HLD19	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42. [-]
hypomyelinating leukodystrophy 25	HLD25	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21. [-]
hypomyelinating leukodystrophy 22	HLD22	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26. [-]
hypomyelinating leukodystrophy 26	HLD26	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21. [-]
hypomyelinating leukodystrophy 17	HLD17	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22. [-]
hypomyelinating leukodystrophy 16	HLD16	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21. [-]
hypomyelinating leukodystrophy 24	HLD24	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. [-]
hypomyelinating leukodystrophy 21	HLD21	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13. [-]
Hengel-Maroofian-Schols syndrome		A syndrome characterized by infant or early childh..[+] A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23. [-]
hyperphosphatasia with impaired intellectual development syndrome	hyperphosphatasia with mental retardation syndrome.. [+] hyperphosphatasia with mental retardation syndrome; HPMRS; Mabry disease; Mabry syndrome [-]	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed. [-]
hyperphosphatasia with impaired intellectual development syndrome 5	hyperphosphatasia with mental retardation syndrome.. [+] hyperphosphatasia with mental retardation syndrome 5; HPMRS5; glycosylphosphatidylinositol biosynthesis defect 11; GPIBD11 [-]	A hyperphosphatasia with impaired intellectual dev..[+] A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12. [-]
hyperphosphatasia with impaired intellectual development syndrome 1	hyperphosphatasia with mental retardation syndrome.. [+] hyperphosphatasia with mental retardation syndrome 1; HPMRS1; glycosylphosphatidylinositol biosynthesis defect 2; GPIBD2 [-]	A hyperphosphatasia with impaired intellectual dev..[+] A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36. [-]
hyperphosphatasia with impaired intellectual development syndrome 2	hyperphosphatasia with mental retardation syndrome.. [+] hyperphosphatasia with mental retardation syndrome 2; HPMRS2; glycosylphosphatidylinositol biosynthesis defect 6; GPIBD6 [-]	A hyperphosphatasia with impaired intellectual dev..[+] A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. [-]
hyperphosphatasia with impaired intellectual development syndrome 3	hyperphosphatasia with mental retardation syndrome.. [+] hyperphosphatasia with mental retardation syndrome 3; HPMRS3; glycosylphosphatidylinositol biosynthesis defect 8; GPIBD8 [-]	A hyperphosphatasia with impaired intellectual dev..[+] A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15. [-]
hyperphosphatasia with impaired intellectual development syndrome 4	hyperphosphatasia with mental retardation syndrome.. [+] hyperphosphatasia with mental retardation syndrome 6; HPMRS6; glycosylphosphatidylinositol biosynthesis defect 62; GPIBD62 [-]	A hyperphosphatasia with impaired intellectual dev..[+] A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12. [-]

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