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Disease	Synonyms	Description	Articles	Phenotypes
adhesions of uterus	Band of uterus; Intrauterine synechiae; Intrauteri.. [+] Band of uterus; Intrauterine synechiae; Intrauterine adhesions [-]	A uterine disease that is characterized by the pre..[+] A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure. [-]
somatization disorder	Briquet's disorder; Polysomatising disorder; Somat.. [+] Briquet's disorder; Polysomatising disorder; Somatisation disorder [-]	A somatoform disorder that involves persistently c..[+] A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin. [-]
lacrimal duct obstruction	Blocked lacrimal canaliculus; Obstruction of lacri.. [+] Blocked lacrimal canaliculus; Obstruction of lacrimal ducts; Obstruction of lacrimal canaliculus [-]	n_a
Masters-Allen syndrome	Broad ligament laceration syndrome	A female reproductive system disease that is chara..[+] A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery. [-]
X-linked agammaglobulinemia	BTK deficiency; Bruton disease; Bruton-type agamma.. [+] Bruton disease; BTK deficiency; Bruton-type agammaglobulinemia; Bruton's agammaglobulinaemia; Bruton's type agammaglobulinemia; Bruton's Sex-Linked Agammaglobulinemia; Bruton agammaglobulinemia tyrosine kinase deficiency; X-linked agammaglobulinemia (disorder) [-]	An agammaglobulinemia that is that has_material_ba..[+] An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. [-]
labyrinthine bilateral reactive loss	Bilateral loss of labyrinthine reactivity; Bilater.. [+] Bilateral loss of labyrinthine reactivity; Bilateral loss of labyrinthine reactivity (disorder); Labyrinthine bilateral reactive loss (disorder); Loss of labyrinthine reactivity, bilateral; Labyrinthine bilateral reactive loss [-]	n_a
steroid-induced glaucoma - borderline	Borderline glaucoma steroid responder; Steroid res.. [+] Borderline glaucoma steroid responder; Steroid responders borderline glaucoma [-]	n_a
hypertelorism, microtia, facial clefting syndrome	Bixler syndrome; Bixler-Christian-Gorlin syndrome; .. [+] Bixler-Christian-Gorlin syndrome; Bixler syndrome; Bixler Christian Gorlin syndrome; Hypertelorism-Microtia-Clefting Syndrome; Hypertelorism-microtia-facial clefting syndrome; HMC syndrome [-]	A syndrome that is characterized by the combinatio..[+] A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia. [-]
co-trimoxazole allergy	Bactrim allergy; cotrimoxazol allergy; TMP/SMX all.. [+] Bactrim allergy; cotrimoxazol allergy; TMP/SMX allergy; trimethoprim/sulfamethoxazole allergy [-]	A drug allergy that has_allergic_trigger co-trimox..[+] A drug allergy that has_allergic_trigger co-trimoxazole. [-]
Rocky Mountain spotted fever	Brazillian spotted; Choix; Exanthematic typhus of .. [+] Brazillian spotted; Choix; Exanthematic typhus of Sao Paulo; Fiebre maculosa; Fiebre manchada; Sao Paulo typhus; So Paulo fever; Tick typhus; Tobia fever [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. [-]
cryptogenic organizing pneumonia	bronchiolitis obliterans organising pneumonia; BOO.. [+] bronchiolitis obliterans organising pneumonia; BOOP; bronchiolitis obliterans organizing pneumonia; idiopathic bronchiolitis obliterans with organizing pneumonia; cryptogenic organising pneumonia; Cryptogenic organizing pneumonitis; idiopathic bronchiolitis obliterans with organising pneumonia; Cryptogenic organising pneumonitis [-]	An idiopathic interstitial pneumonia characterized..[+] An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. [-]
Hailey-Hailey disease	BENIGN CHRONIC PEMPHIGUS; Pemphigus, Benign Famili.. [+] BENIGN CHRONIC PEMPHIGUS; Pemphigus, Benign Familial [-]	A pemphigus that is characterized by recurring bli..[+] A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. [-]
nonphotosensitive trichothiodystrophy 4	BIDS SYNDROME; BIDS syndrome; AMISH BRITTLE HAIR B.. [+] BIDS syndrome; BIDS SYNDROME; AMISH BRITTLE HAIR BRAIN SYNDROME; HAIR-BRAIN 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. [-]
Seckel syndrome	bird-headed dwarfism; Harper's syndrome; microceph.. [+] bird-headed dwarfism; Harper's syndrome; microcephalic primordial 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
congenital disorder of glycosylation type II	B4GALT1-CDG (CDG-2d); MOGS-CDG (CDG-2b); MGAT2-CDG.. [+] B4GALT1-CDG (CDG-2d); MOGS-CDG (CDG-2b); MGAT2-CDG (CDG-2a) [-]	A congenital disorder of glycosylation that involv..[+] A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. [-]
congenital generalized lipodystrophy	Beradinelli-Seip syndrome	A lipodystrophy that is characterized by extreme s..[+] A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. [-]
taeniasis	Beef tapeworm infection; Infection by Taeniarhynch.. [+] Beef tapeworm infection; Infection by Taeniarhynchus saginatus; Taenia saginata infectious disease [-]	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat. [-]
pseudo-TORCH syndrome 1	BLC-PMG; BLCPMG; bilateral band-like calcification.. [+] BLCPMG; BLC-PMG; bilateral band-like calcification with polymicrogyria; Baraitser-Reardon syndrome; Baraitser-Brett-Piesowicz syndrome; band-like calcification with simplified gyration and polymicrogyria; microcephaly-intracranial calcification-intellectual disability syndrome; PTORCH1 [-]	A syndrome that is characterized by congenital mic..[+] A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2. [-]
vitelliform macular dystrophy	Best disease; Best macular dystrophy; juvenile-ons.. [+] Best macular dystrophy; Best disease; juvenile-onset vitelliform macular dystrophy [-]	A macular degeneration that it is characterized by..[+] A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss. [-]
3-methylcrotonyl-CoA carboxylase deficiency	BMCC deficiency; 3MCC deficiency; 3-Methylcrotonyl.. [+] BMCC deficiency; 3MCC deficiency; 3-Methylcrotonylglycinuria [-]	An amino acid metabolic disorder that is classifie..[+] An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. [-]
pulmonary adenocarcinoma in situ	bronchioalveolar carcinoma	A lung carcinoma in situ that derives_from the dis..[+] A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. [-]
medulloblastoma	brain medulloblastoma; CNS PNET; infratentorial pr.. [+] brain medulloblastoma; CNS PNET; infratentorial primitive neuroectodermal tumor; localized primitive neuroectodermal tumor; 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
MHC class I deficiency	BLS, TYPE I; BLSI; bare lymphocyte syndrome type I.. [+] BLSI; BLS, TYPE I; bare lymphocyte syndrome type I; HLA CLASS I DEFICIENCY [-]	n_a
Simpson-Golabi-Behmel syndrome type 1	bulldog syndrome; DGSX Golabi-Rosen syndrome; Sara.. [+] bulldog syndrome; DGSX Golabi-Rosen syndrome; Sara Angers syndrome; Simpson dysmorphia syndrome; X-linked dysplasia gigantism syndrome; SGB syndrome; Golabi-Rosen syndrome [-]	A syndrome characterized by pre- and postnatal ove..[+] A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. [-]
ptosis	blepharoptosis; drooping eyelid	An eye disease characterized by the drooping or fa..[+] An eye disease characterized by the drooping or falling of the upper or lower eyelid. [-]
Native American myopathy	Bailey-Bloch congenital myopathy; congenital myopa.. [+] Bailey-Bloch congenital myopathy; congenital myopathy 13 [-]	A congenital myopathy that is characterized by con..[+] A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. [-]
orofaciodigital syndrome IV	Baraitser-Burn syndrome; OFD4	An orofaciodigital syndrome that is characterized ..[+] An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. [-]
chondrodysplasia Blomstrand type	Blomstrand lethal chondrodysplasia	n_a
NFIA-related disorder	brain malformations with or without urinary tract .. [+] brain malformations with or without urinary tract defects; 1p31p32 microdeletion syndrome; chromosome 1p32-p31 deletion syndrome [-]	A syndrome that has_material_basis_in heterozygous..[+] A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia. [-]
Lisch epithelial corneal dystrophy	band-shaped and whorled microcystic; LECD	An epithelial and subepithelial dystrophy that is ..[+] An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns. [-]
cow milk allergy	Bos taurus milk allergy	A milk allergy triggered by Bos taurus milk.
luminal breast carcinoma A	breast tumor luminal; luminal breast cancer; Lumin.. [+] breast tumor luminal; luminal breast cancer; Luminal A Breast Carcinoma [-]	A breast carcinoma that is characterized by high e..[+] A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. [-]
anomalous left coronary artery from the pulmonary artery	Bland-White-Garland syndrome; White-Garland syndro.. [+] Bland-White-Garland syndrome; White-Garland syndrome; ALCAPA [-]	A coronary artery anomaly in which the left corona..[+] A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. [-]
microcephalic osteodysplastic primordial dwarfism type I	brachymelic primordial dwarfism; cephaloskeletal d.. [+] brachymelic primordial dwarfism; cephaloskeletal dysplasia; low-birth-weight dwarfism with skeletal dysplasia; osteodysplastic primordial dwarfism type I; Taybi-Linder syndrome [-]	A microcephalic osteodysplastic primordial dwarfis..[+] A microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2. [-]	1 articles
megacystis-microcolon-intestinal hypoperistalsis syndrome	Berdon syndrome; visceral myopathy; Megacystis mic.. [+] Berdon syndrome; visceral myopathy; Megacystis microcolon intestinal hypoperistalsis syndrome; megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH [-]	A syndrome that is characterized by marked dilatat..[+] A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. [-]
autosomal recessive congenital ichthyosis 1	bathing suit ichthyosis; ARCI1	An autosomal recessive congenital ichthyosis that ..[+] An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. [-]
autosomal recessive congenital ichthyosis 2	BROCQ congenital ichthyosiform erythroderma nonbul.. [+] BROCQ congenital ichthyosiform erythroderma nonbullous form; ARCI2; nonbullous congenital ichthyosiform erythroderma 1; NCIE1 [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. [-]
syndromic X-linked intellectual disability Turner type	Brooks-Wisniewski-Brown syndrome; mental retardati.. [+] Brooks-Wisniewski-Brown syndrome; mental retardation and macrocephaly syndrome; mental retardation, X-linked syndromic, Turner type; MRXST; X-linked intellectual disability, Brooks type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. [-]
patterned macular dystrophy 2	butterfly-shaped pigmentary maculary dystrophy 2; .. [+] butterfly-shaped pigmentary maculary dystrophy 2; MDPT2 [-]	A patterned macular dystrophy characterized by bil..[+] A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. [-]
patterned macular dystrophy 1	butterfly-shaped pigmentary maculary dystrophy 1; .. [+] butterfly-shaped pigmentary maculary dystrophy 1; MDPT1 [-]	A patterned macular dystrophy characterized by bil..[+] A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. [-]
hypoparathyroidism-deafness-renal disease syndrome	Barakat syndrome; HDR syndrome; hypoparathyroidism.. [+] Barakat syndrome; HDR syndrome; hypoparathyroidism, sensorineural deafness, and renal disease [-]	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. [-]
renal hypomagnesemia 5 with ocular involvement	bilateral macular coloboma with hypercalciuria; fa.. [+] bilateral macular coloboma with hypercalciuria; familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement; FHHNC with severe ocular involvement; hypercalciuria-bilateral macular coloboma syndrome; Meier-Blumberg-Imahorn syndrome [-]	A hypomagnesemia characterized by autosomal recess..[+] A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. [-]
progressive familial intrahepatic cholestasis 2	BSEP deficiency; PFIC2	A progressive familial intrahepatic cholestasis ch..[+] A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. [-]
multiple epiphyseal dysplasia 5	bilateral hereditary microepiphyseal dysplasia; BH.. [+] bilateral hereditary microepiphyseal dysplasia; BHMED; EDM5; multiple epiphyseal dysplasia MATN3-related [-]	A multiple epiphyseal dysplasia that has_material_..[+] A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. [-]
craniolenticulosutural dysplasia	Boyadjiev-Jabs Syndrome; cranio-lenticulo-sutural .. [+] Boyadjiev-Jabs Syndrome; cranio-lenticulo-sutural dysplasia, CLSD [-]	A syndrome in neonates that is characterized by fa..[+] A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects. [-]
primary biliary cholangitis 1	BILIARY CIRRHOSIS, PRIMARY, 1; PBC1	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33. [-]
primary biliary cholangitis 2	BILIARY CIRRHOSIS, PRIMARY, 2; PBC2	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3. [-]
primary biliary cholangitis 3	BILIARY CIRRHOSIS, PRIMARY, 3; PBC3	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2. [-]
primary biliary cholangitis 4	BILIARY CIRRHOSIS, PRIMARY, 4; PBC4	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32. [-]
primary biliary cholangitis 5	BILIARY CIRRHOSIS, PRIMARY, 5; PBC5	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21. [-]

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