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Disease	Synonyms	Description
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; hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum; HLD6; 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	heterozygous microdeletion 17p11.2p12; HNPP; curre.. [+] HNPP; heterozygous microdeletion 17p11.2p12; current pressure-sensitive neuropathy; familial recurrent polyneuropathy; 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. [-]
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 characterized by autosomal dominant inheritance ..[+] A characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure 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 non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ADNP on chromosome 20q13.13. [-]
hereditary sensory and autonomic neuropathy type 5	HSAN5; hereditary sensory and autonomic neuropathy.. [+] HSAN5; hereditary sensory and autonomic neuropathy type V [-]	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. [-]
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. [-]
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 IC	LMPH1C	A hereditary lymphedema characterized by autosomal..[+] A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. [-]
hereditary lymphedema IA	LMPH1A	A hereditary lymphedema characterized by autosomal..[+] A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35. [-]
hereditary nonpolyposis colorectal cancer type 5	HNPCC5	A Lynch syndrome that has_material_basis_in hetero..[+] A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16. [-]
hereditary nonpolyposis colorectal cancer type 7	HNPCC7	A Lynch syndrome that has_material_basis_in mutati..[+] A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3. [-]
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 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 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 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. [-]
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 6	hyperphosphatasia with mental retardation syndrome.. [+] hyperphosphatasia with mental retardation syndrome 4; HPMRS4; glycosylphosphatidylinositol biosynthesis defect 40; GPIBD40 [-]	A hyperphosphatasia with impaired intellectual dev..[+] A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22. [-]
hereditary spastic paraplegia 87	autosomal recessive spastic paraplegia 87; SPG87	A hereditary spastic paraplegia characterized by i..[+] A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. [-]
hereditary spastic paraplegia 90A	autosomal dominant spastic paraplegia 90A; SPG90A; .. [+] autosomal dominant spastic paraplegia 90A; SPG90A [-]	A hereditary spastic paraplegia characterized by m..[+] A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1. [-]
hereditary spastic paraplegia 90B	autosomal recessive spastic paraplegia 90B; SPG90B.. [+] autosomal recessive spastic paraplegia 90B; SPG90B [-]	A hereditary spastic paraplegia characterized by m..[+] A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1. [-]
hypochondroplasia		An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. [-]
hypochondrogenesis		An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. [-]
hypophosphatemic nephrolithiasis/osteoporosis 1		A hypophosphatemic nephrolithiasis/osteoporosis th..[+] A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35. [-]
hypophosphatemic nephrolithiasis/osteoporosis 2		n_a
herpes simplex virus keratitis	dendritic keratitis	A keratitis that has_material_basis_in herpes simp..[+] A keratitis that has_material_basis_in herpes simplex type infection. [-]
hepatic veno-occlusive disease	veno-occlusive disease	A hepatic vascular disease that is characterized b..[+] A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver. [-]
haemophilus meningitis		A bacterial meningitis that has_material_basis_in ..[+] A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection. [-]
hypermanganesemia with dystonia 1		A hypermanganesemia with dystonia that is characte..[+] A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41. [-]
hyperprolinemia type 1	hyperprolinemia type I	A hyperprolinemia that has_material_basis_in homoz..[+] A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. [-]
hypotrichosis 14		A hypotrichosis that is characterized by sparse to..[+] A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. [-]
hyper IgE recurrent infection syndrome 2		A hyper IgE syndrome that has_material_basis_in ho..[+] A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24. [-]
Heimler syndrome 1	Deafness-enamel hypoplasia-nail defects syndrome; .. [+] Deafness-enamel hypoplasia-nail defects syndrome; peroxisomal biogenesis disorder 1C [-]	A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterised 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. [-]

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