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Disease	Synonyms	Description	Articles	Phenotypes
mucopolysaccharidosis II	Hunter's syndrome; Hunter syndrome; MPS II - Hunte.. [+] Hunter syndrome; Hunter's syndrome; MPS II - Hunter syndrome; Mucopolysaccharidosis, MPS-II (disorder); Mucopolysaccharidosis, MPS-II; deficiency of iduronate-2-sulphatase [-]	A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. [-]
mucopolysaccharidosis III	heparan sulfate sulfatase deficiency; MPS IIIA - S.. [+] heparan sulfate sulfatase deficiency; MPS IIIA - Sanfilippo syndrome A; MPS IIIC - Sanfilippo syndrome C; MPS IIID - Sanfilippo syndrome D; mucopolysaccharidosis type IIIA; mucopolysaccharidosis type IIIB; Mucopolysaccharidosis, MPS-III-B; N-acetyl-alpha-D-glucosaminidase deficiency; naglu deficiency; Sanfilippo syndrome A; Sanfilippo syndrome B; MPS IIIB - Sanfilippo syndrome B; N-sulphoglucosamine sulphohydrolase deficiency; Mucopolysaccharidosis, MPS-III; Sanfilippo's syndrome [-]	A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. [-]
mucopolysaccharidosis I	Hurler-Scheie syndrome; Hurler syndrome; iduronida.. [+] Hurler syndrome; Hurler-Scheie syndrome; iduronidase deficiency disease; Lipochondrodystrophy; Mucopolysaccharidosis, MPS-I (disorder); Mucopolysaccharidosis, type 1; MPS I - Hurler syndrome; Mucopolysaccharidosis, MPS-I [-]	A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. [-]
Achilles bursitis	Haglund's deformity; Haglund's disease; Achilles b.. [+] Haglund's disease; Haglund's deformity; Achilles bursitis or tendinitis; Capped hock [-]	n_a
choreatic disease	hereditary chorea; chorea	A movement disease characterized by brief, semi-di..[+] A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. [-]	1 articles
Werdnig-Hoffmann disease	hereditary motor neuropathy proximal type I; HMN (.. [+] hereditary motor neuropathy proximal type I; HMN (Hereditary motor Neuropathy) Proximal type I; infantile muscular atrophy; Werdnig-Hoffman disease; SMA1; Spinal muscular atrophy 1; progressive muscular atrophy of infancy [-]	A childhood spinal muscular atrophy that is a seve..[+] A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13. [-]
porphyria	Hematoporphyria; disorder of porphyrin and hem met.. [+] Hematoporphyria; disorder of porphyrin and hem metabolism; disorder of porphyrin metabolism; Porphyrinopathy [-]	An inherited metabolic disorder that involves cert..[+] An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. [-]	1 articles
temporal arteritis	Horton's disease; Giant cell arteritis (disorder); .. [+] Horton's disease; Giant cell arteritis (disorder); Giant cell arteritis NOS (disorder); Temporal arteritis (disorder); giant cell arteritis; Giant cell Arteritis; Giant cell arteritis; Temporal arteritis [-]	A central nervous system vasculitis that is charac..[+] A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head. [-]
uveoparotid fever	Heerfordt's syndrome; Heerfordt's syndrome (disord.. [+] Heerfordt's syndrome; Heerfordt's syndrome (disorder); Uveoparotid fever [-]	A sarcoidosis that is characterized by unilateral ..[+] A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve. [-]
childhood disintegrative disease	Heller's syndrome; Disintegrative psychosis NOS (d.. [+] Heller's syndrome; Disintegrative psychosis NOS (disorder); Disintegrative psychosis; Symbiotic psychosis [-]	A pervasive developmental disorder that is a rare ..[+] A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. [-]
Addison's disease	HYPOADRENOCORTICISM, FAMILIAL; Addison disease, ch.. [+] HYPOADRENOCORTICISM, FAMILIAL; Addison disease, chronic adrenal insufficiency; primary adrenocortical insufficiency; primary hypoadrenalism; Addison disease [-]	An adrenal cortical hypofunction that is character..[+] An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. [-]
familial combined hyperlipidemia	hyperbetalipoproteinemia with prebetalipoproteinem.. [+] hyperbetalipoproteinemia with prebetalipoproteinemia; familial combined hyperlipidemia (disorder); familial combined hyperlipidemia (disorder) [Ambiguous]; familial multiple lipoprotein-type hyperlipidemia (disorder); mixed hyperlipidemia; mixed hyperlipidemia (disorder); familial multiple lipoprotein-type hyperlipidemia; type IIb hyperlipoproteinemia; mixed hyperlipidaemia [-]	n_a
familial hypercholesterolemia	hyperbetalipoproteinemia; familial hyperbetalipopr.. [+] hyperbetalipoproteinemia; familial hyperbetalipoproteinaemia; Fredrickson type IIa lipidaemia; familial hypercholesteremia; Fredrickson type IIa hyperlipoproteinemia; type II hyperlipidemia [-]	A familial hyperlipidemia characterized by very hi..[+] A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. [-]	1 articles
tetanic cataract	Hypocalcaemic cataract	A cataract resulting from hypocalcemia.
CADASIL	hereditary multi-infarct dementia; cerebral autoso.. [+] hereditary multi-infarct dementia; cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [-]	A leukodystrophy characterized by recurrent subcor..[+] A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment. [-]	1 articles
Morgagni cataract	hypermature cataract	A senile cataract that is characterized by dense w..[+] A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging. [-]
blackwater fever	Hemoglobinuric, malaria; Black water fever (disord.. [+] Hemoglobinuric, malaria; Black water fever (disorder); Malarial Hemoglobinuria; Black water fever; Blackwater fever [-]	A malaria that presents as a rare febrile complica..[+] A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. [-]
epicondylitis	hockey elbow; andrel epicondylitis; archer's elbow.. [+] hockey elbow; andrel epicondylitis; archer's elbow; golfer's elbow; medial epicondylitis; shooter's elbow; Lateral epicondylitis; tennis elbow [-]	A bone inflammation disease that results_in inflam..[+] A bone inflammation disease that results_in inflammation located_in epicondyle. [-]
familial lipoprotein lipase deficiency	hyperchylomicronemia; hypercholesterinaemic xantho.. [+] hyperchylomicronemia; hypercholesterinaemic xanthomatosis; familial hyperchylomicronemia (disorder); familial hyperlipoproteinemia type I; familial lipoprotein lipase deficiency (disorder) [Ambiguous]; familial lipoprotein lipase deficiency with type I phenotype; Fredrickson type I hyperlipoproteinemia (disorder); Fredrickson type I lipaemia; familial chylomiconemia syndrome; familial LPL deficiency; Fredrickson type I hyperlipoproteinemia; familial chylomicronemia syndrome; mixed hyperglyceridemia [-]	A familial hyperlipemia characterized by a deficie..[+] A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. [-]
bilateral hyperactive labyrinth	hyperactive labyrinth, bilateral; hyperactive bila.. [+] hyperactive labyrinth, bilateral; hyperactive bilateral labyrinthine dysfunction; hyperactive bilateral labyrinthine dysfunction (disorder); Bilateral hyperactive labyrinth (disorder); Bilateral hyperactive labyrinth [-]	n_a
von Hippel-Lindau disease	Hippel Lindau syndrome; von Hippel-Lindau syndrome.. [+] Hippel Lindau syndrome; von Hippel-Lindau syndrome; Von Hippel-Lindau syndrome (disorder); Von Hippel-Lindau syndrome (VHL); Von Hippel-Lindau syndrome [-]	n_a
estrogen excess	hyperestrogenism	An ovarian dysfunction that is characterized by a ..[+] An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen. [-]
pemphigoid gestationis	herpes gestationis; Herpes gestationis unspecified.. [+] herpes gestationis; Herpes gestationis unspecified (disorder); Herpes gestationis NOS (disorder); Herpes gestationis (disorder); Herpes gestationis; Gestational herpes [-]	A pemphigoid that is characterized by erythematous..[+] A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis. [-]
neuronal ceroid lipofuscinosis	hereditary ceroid lipofuscinosis	n_a	1 articles
Axenfeld-Rieger syndrome	Hagedoom syndrome; Anomaly, Rieger's; RGS - Rieger.. [+] Hagedoom syndrome; Anomaly, Rieger's; RGS - Rieger syndrome; Rieger's anomaly; Axenfeld syndrome [-]	An eye disease characterized by abnormalities of t..[+] An eye disease characterized by abnormalities of the front part of the eye, the anterior segment. [-]	3 articles
Clouston syndrome	Hidrotic ectodermal dysplasia syndrome; hidrotic e.. [+] Hidrotic ectodermal dysplasia syndrome; hidrotic ectodermal dysplasia; Hidrotic ectodermal dysplasia syndrome (disorder); Clouston's hidrotic ectodermal dysplasia; Clouston's syndrome; ectodermal dysplasia 2, Clouston type [-]	An ectodermal dysplasia that is characterized by a..[+] An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12. [-]
renal agenesis	hereditary urogenital adysplasia; hereditary renal.. [+] hereditary urogenital adysplasia; hereditary renal aplasia; renal adysplasia; renal aplasia [-]	A renal disease that is characterized by the failu..[+] A renal disease that is characterized by the failure of one or both kidneys to develop. [-]	1 articles
polycystic echinococcosis	human polycystic hydatid disease; neotropical echi.. [+] human polycystic hydatid disease; neotropical echinococcosis [-]	An echinococcosis that is caused by the larvae of ..[+] An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. [-]
X-linked dominant hypophosphatemic rickets	hypophosphatemic rickets X-linked dominant; Hypoph.. [+] hypophosphatemic rickets X-linked dominant; Hypophosphatemia, Vitamin D-Resistant Rickets; Rickets, Vitamin D-Resistant; Vitamin D-Resistant Rickets, X-Linked; X-linked hypophosphatemia [-]	A rickets has_material_basis_in X-linked mutations..[+] A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. [-]	1 articles
white sponge nevus	hereditary mucosal leukokeratosis; white sponge ne.. [+] hereditary mucosal leukokeratosis; white sponge nevus of Cannon; white sponge nevus [-]	A skin disease characterized by a defect in the no..[+] A skin disease characterized by a defect in the normal process of keratinization of the mucosa. [-]
Gitelman syndrome	HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, W.. [+] HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA [-]	A renal tubular transport disease that is has_mate..[+] A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). [-]	5 articles
nonphotosensitive trichothiodystrophy 4	HAIR-BRAIN SYNDROME; AMISH BRITTLE HAIR BRAIN SYND.. [+] HAIR-BRAIN SYNDROME; AMISH BRITTLE HAIR BRAIN SYNDROME; BIDS SYNDROME; BIDS syndrome; TTD4 [-]	A syndrome that is characterized by brittle hair, ..[+] A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. [-]
Charcot-Marie-Tooth disease type 1	hereditary motor and sensory neuropathy type 1	A Charcot-Marie-Tooth disease characterized by dem..[+] A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. [-]	1 articles
Charcot-Marie-Tooth disease type 2	hereditary motor and sensory neuropathy Okinawa ty.. [+] hereditary motor and sensory neuropathy Okinawa type; hereditary motor and sensory neuropathy type 2; hereditary motor and sensory neuropathy Guadalajara neuronal type [-]	A Charcot-Marie-Tooth disease characterized by abn..[+] A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. [-]	1 articles
Charcot-Marie-Tooth disease type 4	hereditary motor and sensory neuropathy	A Charcot-Marie-Tooth disease characterized by dem..[+] A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. [-]
visceral heterotaxy	heterotaxia; situs ambiguus	A physical disorder characterized by the abnormal ..[+] A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. [-]	34 articles	121 matches
Walker-Warburg syndrome	HARD syndrome; cerebroocular dysplasia-muscular dy.. [+] HARD syndrome; cerebroocular dysplasia-muscular dystrophy syndrome [-]	A congenital muscular dystrophy that is characteri..[+] A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. [-]
Seckel syndrome	Harper's syndrome; microcephalic primordial dwarfi.. [+] Harper's syndrome; microcephalic primordial dwarfism; bird-headed dwarfism; Virchow-Seckel dwarfism [-]	A syndrome characterized by intrauterine growth re..[+] A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. [-]	2 articles
tooth agenesis	hypodontia; oligodontia; selective tooth agenesis; .. [+] hypodontia; oligodontia; selective tooth agenesis; familial tooth agenesis [-]	A tooth disease characterized by failure to develo..[+] A tooth disease characterized by failure to develop one or more missing teeth. [-]	1 articles
acheiropody	Horn-Kolb Syndrome; Acheiropodia	An osteochondrodysplasia characterized by a lack o..[+] An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. [-]
acrokeratosis verruciformis	Hopf disease; Acrokeratosis verruciformis of Hopf; .. [+] Hopf disease; Acrokeratosis verruciformis of Hopf [-]	A keratosis that has_material_basis_in mutations i..[+] A keratosis that has_material_basis_in mutations in the ATP2A2 gene. [-]
Bamforth-Lazarus syndrome	HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CL.. [+] HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE [-]	A hypothyroidism that is characterized by thyroid ..[+] A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22. [-]
ataxic cerebral palsy	hypotonic cerebral palsy	A cerebral palsy that is caused by damage to the c..[+] A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. [-]
ornithine translocase deficiency	Hyperornithinemia-Hyperammonemia-Homocitrullinuria.. [+] Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome; HHH syndrome [-]	An amino acid metabolic disorder that has_material..[+] An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. [-]
tyrosinemia type I	hepatorenal tyrosinemia	A tyrosinemia that has_material_basis_in deficienc..[+] A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. [-]
vitamin B12 deficiency	hypocobalaminemia; cobalamin deficiency	A vitamin metabolic disorder that results from low..[+] A vitamin metabolic disorder that results from low blood levels of vitamin B12. [-]
congenital intrinsic factor deficiency	hereditary intrinsic factor deficiency	A vitamin B12 deficiency that is characterized by ..[+] A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. [-]
spondyloepiphyseal dysplasia with congenital joint dislocations	humero-spinal dysostosis; humerospinal dysostosis; .. [+] humerospinal dysostosis; humero-spinal dysostosis; Humerospinal dysostosis; Humerospinal Dysostosis; Humero-spinal dysostosis with congenital heart disease; CHST3-Related Skeletal Dysplasia; Kozlowski Celermajer Tink syndrome; Omani Type; Spondyloepiphyseal Dysplasia; CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS [-]	A spondyloepiphyseal dysplasia that is characteriz..[+] A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. [-]
urofacial syndrome	hydronephrosis with peculiar facial expression; Oc.. [+] hydronephrosis with peculiar facial expression; Ochoa syndrome [-]	A syndrome that is characterized by inverted facia..[+] A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. [-]	1 articles
Troyer syndrome	hereditary spastic paraplegia 20; autosomal recess.. [+] hereditary spastic paraplegia 20; autosomal recessive spastic paraplegia 20; autosomal recessive spastic paraplegia Troyer type; autosomal recessive spastic paraplegia type 20; childhood-onset spastic paraparesis with distal muscle wasting; spastic paraplegia 20 (Troyer syndrome); spastic paraplegia type 20; SPG20; spastic paraplegia 20 [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. [-]

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