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Disease	Synonyms	Description	Articles	Phenotypes
Kahrizi syndrome	intellectual disability-cataract-coloboma-kyphosis.. [+] intellectual disability-cataract-coloboma-kyphosis syndrome; intellectual disability, Kahrizi type; KHRZ [-]	A syndrome that is characterized by mental retarda..[+] A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. [-]
generalized dystonia	idiopathic non-familial dystonia; Idiopathic torsi.. [+] idiopathic non-familial dystonia; Idiopathic torsion dystonia; idiopathic familial dystonia; Dystonia 12; dystonia musculorum deformans; familial dystonia; fragments of torsion dystonia; symptomatic torsion dystonia; dystonia deformans progressiva [-]	A dystonia that affects most or all of the body.
medulloblastoma	infratentorial primitive neuroectodermal tumor; CN.. [+] infratentorial primitive neuroectodermal tumor; CNS PNET; localized primitive neuroectodermal tumor; brain medulloblastoma; CPNET; Medulloblastoma, histologically defined [-]	An infratentorial cancer that is located_in the lo..[+] An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. [-]	1 articles	6 matches
small intestine carcinoid neuroendocrine tumor	intestinal carcinoid tumour; 'intestinal carcinoid.. [+] intestinal carcinoid tumour; 'intestinal carcinoid tumour' [-]	A neuroendocrine tumor that has_material_basis_in ..[+] A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine. [-]
carnitine palmitoyltransferase II deficiency	infantile carnitine palmitoyltransferase II defici.. [+] infantile carnitine palmitoyltransferase II deficiency; CPT-II; lethal neonatal carnitine palmitoyltransferase II deficiency; late-onset carnitine palmitoyltransferase II deficiency [-]	A lipid metabolism disorder characterized by an en..[+] A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. [-]
sclerocornea	isolated congenital sclerocornea	A corneal disease in which the cornea blends with ..[+] A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. [-]
renal-hepatic-pancreatic dysplasia	Ivemark's syndrome	it is usual fatal soon after birth.; A physical di..[+] A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. [-]	1 articles
Vici syndrome	immunodeficiency with cleft lip/palate, cataract, .. [+] immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum [-]	A syndrome characterized by callosal agenesis, cat..[+] A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3. [-]
Schimke immuno-osseous dysplasia	immunoosseous dysplasia Schimke type; Schimke synd.. [+] immunoosseous dysplasia Schimke type; Schimke syndrome; spondyloepiphyseal dysplasia - nephrotic syndrome; Schimke immunoosseous dysplasia [-]	A spondyloepiphyseal dysplasia characterized by sh..[+] A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. [-]
mitochondrial complex I deficiency	isolated NADH-ubiquinone reductase deficiency; iso.. [+] isolated NADH-ubiquinone reductase deficiency; isolated NADH-CoQ reductase deficiency; isolated NADH-coenzyme Q reductase deficiency; isolated mitochondrial respiratory chain complex I deficiency [-]	A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. [-]
mitochondrial complex II deficiency	isolated succinate-CoQ reductase deficiency; isola.. [+] isolated succinate-CoQ reductase deficiency; isolated succinate-coenzyme Q reductase deficiency; isolated succinate-ubiquinone reductase deficiency; isolated mitochondrial respiratory chain complex II deficiency [-]	A mitochondrial metabolism disease characterized b..[+] A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. [-]
lethal congenital contracture syndrome 3	Israeli Bedouin type B multiple contracture syndro.. [+] Israeli Bedouin type B multiple contracture syndrome [-]	A lethal congenital contracture syndrome that has_..[+] A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. [-]
arteriovenous malformations of the brain	intracranial arteriovenous malformation; cerebral .. [+] intracranial arteriovenous malformation; cerebral arteriovenous malformation [-]	A central nervous system benign neoplasm that deri..[+] A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. [-]
autosomal recessive congenital ichthyosis 4A	ichthyosis congenita IIB; ICR2B; ARCI4A; lamellar .. [+] ICR2B; ichthyosis congenita IIB; ARCI4A; lamellar ichthyosis 2 [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. [-]
autosomal recessive congenital ichthyosis 11	IFAH syndrome; IHS; ichthyosis-hypotrichosis syndr.. [+] IHS; IFAH syndrome; ichthyosis-hypotrichosis syndrome; ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome; ichthyosis-follicular atrophoderma-hypotrichosis syndrome; ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis; autosomal recessive ichthyosis with hypotrichosis; hypotrichosis-congenital ichthyosis syndrome [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. [-]
restrictive dermopathy	Infantile restrictive dermopathy; hyperkeratosis-c.. [+] Infantile restrictive dermopathy; hyperkeratosis-contracture syndrome; tight skin contracture syndrome; lethal restrictive dermopathy; Lethal tight skin contracture syndrome [-]	A skin disease characterized by thin, tightly adhe..[+] A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life. [-]	1 articles
dextro-looped transposition of the great arteries	isolated ventriculoarterial discordance; congenita.. [+] isolated ventriculoarterial discordance; congenitally uncorrected transposition of the great arteries; congenitally uncorrected transposition of the great vessels; D-TGA; ventriculoarterial discordance with atrioventricular concordance; DTGA1 [-]	A congenital heart disease characterized by comple..[+] A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. [-]	1 articles
microvillus inclusion disease	intractable diarrhea of infancy; congenital microv.. [+] intractable diarrhea of infancy; congenital microvillus atrophy; Davidson disease; diarrhea 2 with microvillus atrophy; MVD; congenital familial protracted diarrhea with enterocyte brush-border abnormalities [-]	A congenital diarrhea characterized by onset of in..[+] A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. [-]
syndromic X-linked intellectual disability 17	intellectual disability-alacrima-achalasia syndrom.. [+] intellectual disability-alacrima-achalasia syndrome; mental retardation, X-linked, syndromic 17; X-linked mental retardation with alacrima and achalasia [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. [-]
right atrial isomerism	Ivemark syndrome; asplenia with cardiovascular ano.. [+] Ivemark syndrome; asplenia with cardiovascular anomalies [-]	A visceral heterotaxy characterized by complete at..[+] A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. [-]
bullous congenital ichthyosiform erythroderma	ichthyosis bullosa of Siemens; superficial epiderm.. [+] ichthyosis bullosa of Siemens; superficial epidermolytic ichthyosis; bullous type ichthyosis [-]	An ichthyosis characterized by congenital erythema..[+] An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. [-]
renal hypomagnesemia 3	isolated renal hypomagnesemia; familial primary hy.. [+] isolated renal hypomagnesemia; familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement; FHHNC without severe ocular involvement; primary hypomagnesemia due to defect in renal tubular transport of magnesium; HOMG3; renal hypomagnesemia type 3 [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. [-]
Vulto-van Silfout-de Vries syndrome	intellectual developmental disorder with impaired .. [+] intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures; IDDISBAS; autosomal dominant mental retardation 24; MRD24; autosomal dominant non-syndromic intellectual disability 24; VSVS [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5. [-]
congenital nongoitrous hypothryoidism 4	isolated thyrotropin deficiency; CHNG4	A congenital hypothyroidism characterized by a per..[+] A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. [-]
hereditary sensory neuropathy type 4	insensitivity to pain, congenital, with anhidrosis.. [+] insensitivity to pain, congenital, with anhidrosis; hereditary sensory neuropathy type IV [-]	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
spermatogenic failure 5	Infertility associated with multi-tailed spermatoz.. [+] Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid; infertility associated with multitailed spermatozoa and excessive DNA; male infertility with large-headed, multiflagellar, polyploid spermatozoa; SPGF5; male infertility due to macrozoospermia; macrocephalic sperm head syndrome [-]	A spermatogenic failure that is characterized by a..[+] A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. [-]
miliaria profunda	ICD10CM:L74.2; SNOMEDCT_US_2020_03_01:47317002	A miliaria that is characterized by ductal occlusi..[+] A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash. [-]
classic dopamine transporter deficiency syndrome	infantile parkinsonism-dystonia 1; classic DTDS; P.. [+] infantile parkinsonism-dystonia 1; classic DTDS; PKDYS1 [-]	A dopamine transporter deficiency syndrome charact..[+] A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. [-]
peeling skin syndrome 1	inflammatory peeling skin syndrome; generalized in.. [+] inflammatory peeling skin syndrome; generalized inflammatory peeling skin syndrome; peeling skin syndrome type B; PSS1 [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33. [-]
peeling skin syndrome 4	ichthyosis exfoliativa; ichthyosis bullosa of Siem.. [+] ichthyosis exfoliativa; ichthyosis bullosa of Siemens-like; AREI; autosomal recessive exfoliative ichthyosis; exfoliative ichthyosis; PSS4 [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1. [-]
peeling skin syndrome 5	ichthyosis exfoliativa; autosomal recessive exfoli.. [+] ichthyosis exfoliativa; autosomal recessive exfoliative ichthyosis; exfoliative ichthyosis; PSS5 [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1. [-]
mucolipidosis II alpha/beta	I-cell disease; inclusion-cell disease; mucolipido.. [+] inclusion-cell disease; I-cell disease; mucolipidosis II; mucolipidosis II alpha/beta [-]	A mucolipidosis that is characterized by short sta..[+] A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene. [-]
nonsyndromic congenital nail disorder 8	isolated toenail dystrophy	A nonsyndromic congenital nail disorder that is ch..[+] A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only. [-]
mitochondrial DNA depletion syndrome 7	infantile onset spinocerebellar ataxia; OHAHA SYND.. [+] infantile onset spinocerebellar ataxia; OHAHA SYNDROME [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24. [-]
multiple mitochondrial dysfunctions syndrome 3	IBA57 deficiency	A multiple mitochondrial dysfunctions syndrome tha..[+] A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42. [-]
mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma	indeterminate bronchioloalveolar carcinoma; mixed .. [+] indeterminate bronchioloalveolar carcinoma; mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma [-]	A bronchiolo-alveolar adenocarcinoma that is chara..[+] A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin). [-]
nephrotic syndrome type 7	Immunoglobulin-mediated MPGN; immunoglobulin-media.. [+] Immunoglobulin-mediated MPGN; immunoglobulin-mediated membranoproliferative glomerulonephritis; Ig-mediated MPGN; Ig-mediated membranoproliferative glomerulonephritis; nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis [-]	A familial nephrotic syndrome characterized by ons..[+] A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22. [-]
developmental and epileptic encephalopathy 35	ITPA-related encephalopathy; DEE35; early infantil.. [+] ITPA-related encephalopathy; DEE35; early infantile epileptic encephalopathy 35 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. [-]
B-lymphoblastic leukemia/lymphoma with iAMP21	Intrachromosomal amplification of chromosome 21 (i.. [+] Intrachromosomal amplification of chromosome 21 (iAMP21); B-ALL with iAMP21 [-]	A B-lymphoblastic leukemia/lymphoma that is charac..[+] A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. [-]
GNE myopathy	inclusion body myopathy 2; Distal Myopathy with Ri.. [+] inclusion body myopathy 2; Distal Myopathy with Rimmed Vacuoles; Distal myopathy, Nonaka type; Hereditary Inclusion Body Myopathy; 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. [-]
congenital myopathy 6	inclusion body myopathy 3; proximal myopathy and o.. [+] inclusion body myopathy 3; proximal myopathy and ophthalmoplegia [-]	A congenital myopathy that is characterized by chi..[+] A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. [-]
autosomal dominant beta thalassemia	inclusion body beta-thalassemia	A beta thalassemia that has_material_basis_in one ..[+] A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. [-]
serum amyloid A amyloidosis	inflammation AA amyloidosis; AA amyloidosis; Apo s.. [+] inflammation AA amyloidosis; AA amyloidosis; Apo serum amyloid A amyloidosis; secondary amyloidosis [-]	An amyloidosis that is characterized by sustained ..[+] An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body. [-]
RNASET2-deficient cystic leukoencephalopathy	infantile-onset RNASET2 deficient cystic leukoence.. [+] infantile-onset RNASET2 deficient cystic leukoencephalopathy; cystic leukoencephalopathy without megalencephaly [-]	A leukodystrophy that is characterized by non-prog..[+] A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. [-]
glycosylphosphatidylinositol biosynthesis defect 16	Intellectual developmental disorder, autosomal rec.. [+] Intellectual developmental disorder, autosomal recessive 62 [-]	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23. [-]
COX deficiency, benign infantile mitochondrial myopathy	Isolated cytochrome C oxidase deficiency	A cytochrome-c oxidase deficiency disease characte..[+] A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. [-]
CINCA Syndrome	infantile-onset multisystem inflammatory disease; .. [+] infantile-onset multisystem inflammatory disease; IOMID syndrome; chronic infantile neurological cutaneous articular syndrome; chronic neurologic cutaneous and articular syndrome; cryopyrin-associated periodic syndrome 3; neonatal-onset multisystem inflammatory disease; NOMID syndrome; Prieur-Griscelli syndrome [-]	An autoimmune disease characterized by neonatal on..[+] An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. [-]
hypogonadotropic hypogonadism	isolated congenital gonadotropin deficiency; conge.. [+] isolated congenital gonadotropin deficiency; congenital idiopathic hypogonadotropic hypogonadism; hypogonadotropism [-]	A hypogonadism characterized by a impaired signall..[+] A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone. [-]	2 articles
hypogonadotropic hypogonadism 24 without anosmia	isolated follicle-stimulating hormone deficiency	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. [-]
aromatase excess syndrome	increased aromatase activity; AEXS; familial hyper.. [+] increased aromatase activity; AEXS; familial hyperestrogenism; hereditary prepubertal gynecomastia [-]	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. [-]

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