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Disease	Synonyms	Description
nuclear type mitochondrial complex I deficiency 20	Acyl-CoA dehydrogenase 9 deficiency; ACAD9 deficie.. [+] Acyl-CoA dehydrogenase 9 deficiency; ACAD9 deficiency; MC1DN20; mitochondrial complex 1 deficiency due to ACAD9 deficiency [-]	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3. [-]
severe congenital neutropenia 7	autosomal recessive severe congenital neutropenia .. [+] autosomal recessive severe congenital neutropenia due to CSF3R deficiency; SCN7 [-]	A severe congenital neutropenia characterized by o..[+] A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3. [-]
severe congenital neutropenia 6	autosomal recessive severe congenital neutropenia .. [+] autosomal recessive severe congenital neutropenia due to JAGN1 deficiency; SCN6 [-]	A severe congenital neutropenia that has_material_..[+] A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3. [-]
severe congenital neutropenia 8	autosomal dominant severe congenital neutropenia 8.. [+] autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities; SCN8; SDSL; Shwachman-Diamond syndrome-like [-]	An autosomal dominant severe congenital neutropeni..[+] An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2. [-]
severe congenital neutropenia 4	autosomal recessive severe congenital neutropenia .. [+] autosomal recessive severe congenital neutropenia due to G6PC3 deficiency; Dursun syndrome; SCN4; severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome [-]	A severe congenital neutropenia that has_material_..[+] A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. [-]
corpus callosum agenesis-abnormal genitalia syndrome	ACC with abnormal genitalia; corpus callosum agene.. [+] ACC with abnormal genitalia; corpus callosum agenesis with abnormal genitalia; Proud syndrome; Proud-Levine-Carpenter syndrome; microcephaly-corpus callosum agenesis-abnormal genitalia syndrome [-]	A syndrome characterized by agenesis of the corpus..[+] A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. [-]
Mayer-Rokitansky-Kuster-Hauser syndrome type 2	atypical MRKH syndrome; MRKH syndrome type 2; mull.. [+] atypical MRKH syndrome; MRKH syndrome type 2; mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia; mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome; MURCS; MURCS association [-]	A Mayer-Rokitansky-Kuster-Hauser syndrome characte..[+] A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. [-]
Schinzel type phocomelia	aplasia/hypoplasia of limbs and pelvis; Al-Awadi/R.. [+] aplasia/hypoplasia of limbs and pelvis; Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome; Al Awadi-Raas-Rothschild syndrome; absence of ulna and fibula with severe limb deficiency; AARRS; congenital absence of ulna and fibula; limb/pelvis-hypoplasia/aplasia syndrome; LPHAS; Schinzel phocomelia syndrome; severe limb deficit [-]	A syndrome characterized by severe malformations o..[+] A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. [-]
male infertility due to acephalic spermatozoa	acephalic spermatozoa syndrome	A spermatogenic failure characterized by male infe..[+] A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads. [-]
Schindler disease	alpha-N-acetylgalactosaminidase deficiency; NAGA d.. [+] alpha-N-acetylgalactosaminidase deficiency; NAGA deficiency [-]	A lysosomal storage disease that has_material_basi..[+] A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. [-]
Schindler disease type 1	alpha-N-acetylgalactosaminidase deficiency type 1; .. [+] alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1 [-]	A Schindler disease characterized by infantile ons..[+] A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. [-]
Kanzaki disease	alpha-N-acetylgalactosaminidase deficiency type 2; .. [+] alpha-N-acetylgalactosaminidase deficiency type 2; adult-onset alpha-N-acetylgalactosaminidase deficiency; NAGA deficiency type 2 [-]	A Schindler disease characterized by adult-onset o..[+] A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13. [-]
Schindler disease type 3	alpha-N-acetylgalactosaminidase deficiency type 3; .. [+] alpha-N-acetylgalactosaminidase deficiency type 3; NAGA deficiency type 3 [-]	A Schindler disease characterized by mild to moder..[+] A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. [-]
hereditary spastic paraplegia 79B	autosomal recessive spastic paraplegia 79B; early-.. [+] autosomal recessive spastic paraplegia 79B; early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome; spastic paraplegia 79 autosomal recessive; SPG79; SPG79B [-]	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. [-]
hereditary spastic paraplegia 81	autosomal recessive complex SPG due to Kennedy pat.. [+] autosomal recessive complex SPG due to Kennedy pathway dysfunction; autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction; spastic paraplegia 81 autosomal recessive; SPG81 [-]	A hereditary spastic paraplegia characterized by o..[+] A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3. [-]
spondylocostal dysostosis 6	autosomal recessive spondylocostal dysostosis 6; S.. [+] autosomal recessive spondylocostal dysostosis 6; SCDO6 [-]	A spondylocostal dysostosis that has_material_basi..[+] A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2. [-]
spondylocostal dysostosis 3	autosomal recessive spondylocostal dysostosis 3; S.. [+] autosomal recessive spondylocostal dysostosis 3; SCDO3 [-]	A spondylocostal dysostosis that has_material_basi..[+] A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3. [-]
spondylocostal dysostosis 2	autosomal recessive spondylocostal dysostosis 2; S.. [+] autosomal recessive spondylocostal dysostosis 2; SCDO2 [-]	A spondylocostal dysostosis that has_material_basi..[+] A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1. [-]
spondylocostal dysostosis 4	autosomal recessive spondylocostal dysostosis 4; S.. [+] autosomal recessive spondylocostal dysostosis 4; SCDO4 [-]	A spondylocostal dysostosis that has_material_basi..[+] A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1. [-]
spondylocostal dysostosis 1	autosomal recessive spondylocostal dysostosis 1; S.. [+] autosomal recessive spondylocostal dysostosis 1; SCDO1 [-]	A spondylocostal dysostosis that has_material_basi..[+] A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2. [-]
muscular dystrophy-dystroglycanopathy type C8	autosomal recessive limb-girdle muscular dystrophy.. [+] autosomal recessive limb-girdle muscular dystrophy 24; LGMDR24; MDDGC2; muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8; muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related [-]	A muscular dystrophy-dystroglycanopathy characteri..[+] A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. [-]
KINSSHIP syndrome	AFF3-related mesomelic dysplasia; KINS; Steichen-G.. [+] AFF3-related mesomelic dysplasia; KINS; Steichen-Gersdorf type mesomelic dysplasia [-]	A syndrome characterized by developmental delay, i..[+] A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. [-]

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