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Disease	Synonyms	Description
prune belly syndrome	Obrisnksy syndrome; abdominal muscle deficiency sy.. [+] Obrisnksy syndrome; abdominal muscle deficiency syndrome; Eagle-Barret syndrome [-]	A syndrome that is characterized by megacystis wit..[+] A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. [-]
Schwartz-Jampel syndrome 1	osteochondromuscular dystrophy; Aberfeld syndrome; .. [+] osteochondromuscular dystrophy; Aberfeld syndrome; Burton skeletal dysplasia; Burton syndrome; Catel-Hempel syndrome; Catel-Hempel type dysostosis enchondralis metaepiphysaria; myotonic chondrodystrophy; myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Schwartz-Jampel syndrome type 1; Schwartz-Jampel-Aberfeld syndrome [-]	An autosomal recessive disease characterized by ne..[+] An autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. [-]
renal coloboma syndrome	optic coloboma, vesicoureteral reflux and renal an.. [+] optic coloboma, vesicoureteral reflux and renal anomalies; CAKUT with or without ocular abnormalities; coloboma of optic nerve with renal disease; congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; papillo-renal syndrome, optic nerve coloboma with renal disease; papillorenal syndrome; renal-coloboma syndrome with macular abnormalities [-]	A syndrome characterized by optic nerve coloboma a..[+] A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. [-]
Charcot-Marie-Tooth disease X-linked recessive 5	optic atrophy, polyneuropathy, and deafness; Charc.. [+] optic atrophy, polyneuropathy, and deafness; Charcot-Marie-Tooth neuropathy X-linked recessive 5; CMT5X; CMTX5; Rosenberg-Chutorian syndrome; X-linked Charcot-Marie-Tooth disease type 5 [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. [-]
autosomal dominant osteopetrosis 1	OPTA1; autosomal dominant osteopetrosis type 1	An osteopetrosis characterized by autosomal domina..[+] An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. [-]
autosomal dominant osteopetrosis 2	OPTA2; osteopetrosis autosomal dominant type 2; Al.. [+] osteopetrosis autosomal dominant type 2; OPTA2; Albers-Schonberg osteopetrosis; autosomal dominant Albers-Schonberg disease; autosomal dominant osteopetrosis type II [-]	An osteopetrosis characterized by autosomal domina..[+] An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. [-]
autosomal recessive osteopetrosis 5	OPTB5; infantile malignant osteopetrosis 3	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. [-]
autosomal recessive osteopetrosis 8	OPTB8	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. [-]
autosomal recessive osteopetrosis 3	OPTB3; osteopetrosis with renal tubular acidosis; .. [+] osteopetrosis with renal tubular acidosis; OPTB3; autosomal recessive osteopetrosis 3 with renal tubular acidosis; carbonic anhydrase II deficiency; Guibaud-Vainsel syndrome; marble brain disease [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. [-]
autosomal recessive osteopetrosis 1	OPTB1; autosomal recessive Albers-Schonberg diseas.. [+] OPTB1; autosomal recessive Albers-Schonberg disease; infantile malignant osteopetrosis 1 [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. [-]
autosomal recessive osteopetrosis 2	OPTB2; osteoclast-poor osteopetrosis; mild autosom.. [+] osteoclast-poor osteopetrosis; OPTB2; mild autosomal recessive form osteopetrosis [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. [-]
autosomal recessive osteopetrosis 4	OPTB4; infantile malignant osteopetrosis 2	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. [-]
autosomal recessive osteopetrosis 6	OPTB6; autosomal recessive osteopetrosis intermedi.. [+] OPTB6; autosomal recessive osteopetrosis intermediate form [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. [-]
autosomal recessive osteopetrosis 7	osteopetrosis-hypogammaglobulinemia syndrome; oste.. [+] osteopetrosis-hypogammaglobulinemia syndrome; osteoclast-poor osteopetrosis with hypogammaglobulinemia; OPTB7; autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia; autosomal recessive osteopetrosis type 7 [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. [-]
brachydactyly type A6	Osebold-Remondini syndrome; BDA6; brachymesophalan.. [+] Osebold-Remondini syndrome; BDA6; brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities [-]	A brachydactyly characterized by brachymesophalang..[+] A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. [-]
congenital bile acid synthesis defect 3	oxysterol 7-alpha-hydroxylase deficiency; CBAS3	A congenital bile acid synthesis defect characteri..[+] A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. [-]
postural orthostatic tachycardia syndrome	orthostatic intolerance due to NET deficiency; orh.. [+] orthostatic intolerance due to NET deficiency; orhtostatic intolerance; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; mitral valve prolapse syndrome; neurocirculatory asthenia; postural tachycardia syndrome due to NET deficiency; soldiers heart [-]	A heart conduction disease characterized by orthos..[+] A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. [-]
Kaufman oculocerebrofacial syndrome	oculocerebrofacial syndrome, Kaufman type; blephar.. [+] oculocerebrofacial syndrome, Kaufman type; blepharophimosis ptosis intellectual disability syndrome; KOS [-]	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compund heterozygous mutation in the UBE3B gene on chromosome 12q24.11. [-]
linear nevus sebaceous syndrome	organoid nevus syndrome; organoid nevus phakomatos.. [+] organoid nevus syndrome; organoid nevus phakomatosis; Jadassohn nevus phakomatosis; JNP; nevus sebaceus of Jadassohn; nevus sebaceus syndrome; Schimmelpenning Feuerstein Mims syndrome; Schimmelpenning syndrome; SFM syndrome; Solomon syndrome [-]	A syndrome characterized by sebaceous nevi typical..[+] A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. [-]
Behr syndrome	optic atrophy, infantile hereditary, Behr complica.. [+] optic atrophy, infantile hereditary, Behr complicated form of; optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; Abortive cerebellar ataxia (BEHRS); BEHRS [-]	A nervous system disease characterized by early-on..[+] A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29. [-]
primary hyperoxaluria type 1	oxalosis I; alanine-glyoxylate aminotransferase de.. [+] oxalosis I; alanine-glyoxylate aminotransferase deficiency; glycolic aciduria; hepatic AGT deficiency; HP1; peroxisomal alanine-glyoxylate aminotransferase deficiency; serine pyruvate aminotransferase deficiency [-]	A primary hyperoxaluria characterized by failure t..[+] A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. [-]
syndromic microphthalmia 2	oculofaciocardiodental syndrome; OFCD syndrome; AN.. [+] OFCD syndrome; oculofaciocardiodental syndrome; ANOP2; cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; MAA2; MCOPS2; microphthalmia cataracts radiculomegaly and septal heart defects; syndromic microphthalmia type 2 [-]	A syndromic microphthalmia characterized by dental..[+] A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4. [-]
immunodeficiency 16	OX40 deficiency; combined immunodeficiency due to .. [+] OX40 deficiency; combined immunodeficiency due to OX40 deficiency; combined immunodeficiency with childhood-onset Kaposi sarcoma; combined immunodeficiency with impaired immunity to HHV-8; combined immunodeficiency with impaired immunity to human herpes virus 8; IMD16 [-]	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. [-]
Bosch-Boonstra-Schaaf optic atrophy syndrome	optic atrophy-intellectual disability syndrome; BB.. [+] optic atrophy-intellectual disability syndrome; BBSOAS [-]	A syndrome characterized by delayed development, m..[+] A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15. [-]

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