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Disease	Synonyms	Description
primary failure of tooth eruption	nonsyndromic primary failure of eruption; dental n.. [+] nonsyndromic primary failure of eruption; dental noneruption; familial posterior openbite malocclusion; PFE; primary retention of teeth; unerupted second primary molar [-]	A tooth disease characterized by incomplete tooth ..[+] A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. [-]
mucopolysaccharidosis type IIIB	NAGLU deficiency; N-acetyl-alpha-glucosaminidase d.. [+] NAGLU deficiency; N-acetyl-alpha-glucosaminidase deficiency; MPS3B; MPSIIIB; Mucopolysaccharidosis type 3B; mucopolysaccharidosis type IIIB (Sanfilippo B); Sanfilippo syndrome type B; Mucopoly-saccharidosis type 3B [-]	A mucopolysaccharidosis III characterized by neuro..[+] A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2. [-]
mucopolysaccharidosis type IIID	N-acetylglucosamine-6-sulfatase deficiency; GNS de.. [+] N-acetylglucosamine-6-sulfatase deficiency; GNS deficiency; MPS IIID; Sanfilippo syndrome D; Mucopolysaccharidosis type 3D; MPS3D; Sanfilippo syndrome type D [-]	A mucopolysaccharidosis III that has_material_basi..[+] A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. [-]
progressive myoclonus epilepsy 3	neuronal ceroid lipofuscinosis 14; CLN14 disease; .. [+] neuronal ceroid lipofuscinosis 14; CLN14 disease; PME type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency; Progressive myoclonus epilepsy type 3; EPM3 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21. [-]
progressive myoclonus epilepsy 6	North Sea progressive myoclonus epilepsy; EPM6; GO.. [+] North Sea progressive myoclonus epilepsy; EPM6; GOSR2-related progressive myoclonus ataxia; PME type 6; Progressive myoclonus epilepsy type 6 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. [-]
combined oxidative phosphorylation deficiency 28	neonatal severe cardiopulmonary failure due to mit.. [+] neonatal severe cardiopulmonary failure due to mitochondrial methylation defect; COXPD28 [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1. [-]
linear nevus sebaceous syndrome	nevus sebaceus of Jadassohn; nevus sebaceus syndro.. [+] nevus sebaceus of Jadassohn; nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Jadassohn nevus phakomatosis; organoid nevus phakomatosis; Schimmelpenning syndrome; SFM syndrome; Solomon syndrome; JNP; Schimmelpenning Feuerstein Mims syndrome; organoid nevus 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. [-]
scapuloperoneal spinal muscular atrophy	neurogenic scapuloperoneal amyotrophy, New England.. [+] neurogenic scapuloperoneal amyotrophy, New England type; scapuloperoneal neuronopathy; SPSMA [-]	A motor neuron disease characterized by progressiv..[+] A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. [-]
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Najjar syndrome; cardiogenital syndrome; cardiomyo.. [+] Najjar syndrome; cardiogenital syndrome; cardiomyopathy eith primary testicular failure; congestive cardiomyopathy with hypergonadotropic hypogonadism; dilated cardiomyopathy with hypergonadotropic hypogonadism; Malouf syndrome; dilated cardiomyopathy with premature ovarian failure; genital anomaly with cardiomyopathy [-]	A syndrome characterized by dilated cardiomyopathy..[+] A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. [-]
D-glyceric aciduria	non ketotic hyperglycinemia syndrome; D-glycerate .. [+] non ketotic hyperglycinemia syndrome; D-glycerate kinase deficiency; D-glyceric acidemia; D-glycericacidemia; deficiency of glycerate kinase [-]	An inherited metabolic disorder characterized by i..[+] An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2. [-]
X-linked deafness 4	nonsyndromic sensorineural progressive deafness 6; .. [+] nonsyndromic sensorineural progressive deafness 6; DFN6; DFNX4; X-linked progressive deafness 6 [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12. [-]
X-linked deafness 2	Nance deafness; conductive deafness 3 with stapes .. [+] Nance deafness; conductive deafness 3 with stapes fixation; conductive deafness with stapes fixation; DFN3; DFNX2; X-linked deafness type 2; X-linked mixed conductive and neurosensory deafness; X-linked mixed conductive and neurosensory hearing loss; X-linked mixed conductive and sensorineural deafness; X-linked mixed conductive and sensorineural hearing loss; X-linked stapes gusher syndrome; mixed deafness with perilymphatic gusher [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1. [-]
congenital nystagmus 1	NYS1; congenital motor nystagmus 1; X-linked infan.. [+] NYS1; congenital motor nystagmus 1; X-linked infantile nystagmus 1 [-]	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2. [-]
congenital nystagmus 7	NYS7; autosomal dominant congenital nystagmus 7	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1. [-]
congenital nystagmus 2	NYS2; congenital motor nystagmus 2; autosomal domi.. [+] NYS2; congenital motor nystagmus 2; autosomal dominant congenital nystagmus 2 [-]	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12. [-]
congenital nystagmus 3	NYS3; autosomal dominant congenital nystagmus 3	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2. [-]
congenital nystagmus 6	NYS6; X-linked congenital nystagmus 6	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2. [-]
congenital nystagmus 5	NYS5; X-linked congenital nystagmus 5	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4. [-]
X-linked nephrolithiasis type I	NPHL1; nephrolithiasis X-linked recessive type 1; .. [+] nephrolithiasis X-linked recessive type 1; NPHL1; nephrolithiasis 1; X-linked nephrolithiasis with renal failure; X-linked recessive urolithiasis type 1; XRN [-]	A renal tubular transport disease characterized by..[+] A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23. [-]
Keipert syndrome	nasodigitoacoustic syndrome; KPTS	A syndrome characterized by craniofacial and digit..[+] A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2. [-]
Mullegama-Klein-Martinez syndrome	NEDXCF; MKMS; X-linked neurodevelopmental disorder.. [+] NEDXCF; MKMS; X-linked neurodevelopmental disorder with craniofacial abnormalities [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. [-]
severe congenital encephalopathy due to MECP2 mutation	neonatal severe encephalopathy due to MECP2 mutati.. [+] neonatal severe encephalopathy due to MECP2 mutations; severe neonatal-onset encephalopathy with microcephaly [-]	A brain disease characterized by severe neonatal e..[+] A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28. [-]
immunodeficiency 54	NKCD; familial isolated natural killer cell defici.. [+] NKCD; familial isolated natural killer cell deficiency; IMD54; primary immunodeficiency due to MCM4 deficiency; primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency [-]	An NK cell deficiency characterized by severe intr..[+] An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21. [-]
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	neutrophil immunodeficiency syndrome; IMD73A	A combined immunodeficiency characterized by onset..[+] A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1. [-]
CHIME syndrome	neuroectodermal syndrome, Zunich type; neuroectode.. [+] neuroectodermal syndrome, Zunich type; neuroectodermal dysplasia, CHIME type; coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; congenital disorder of glycosylation due to PIGL deficiency; PIGL-CDG; Zunich neuroectodermal syndrome; Zunich-Kaye syndrome [-]	A syndrome characterized by colobomas, congenital ..[+] A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2. [-]
17-beta hydroxysteroid dehydrogenase 3 deficiency	neutral 17-beta-hydroxysteroid oxidoreductase defi.. [+] neutral 17-beta-hydroxysteroid oxidoreductase deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; 17-ketoreductase deficiency; 17-ketosteroidreductase deficiency; 17-KSR deficiency; 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency; male pseudohermaphroditism with gynecomastia [-]	A pseudohermaphroditism characterized by undermasc..[+] A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22. [-]
Mahvash Disease	nesidioblastosis, alpha cell hyperplasia, microglu.. [+] nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor; GCGR-related hyperglucagonemia [-]	An endocrine pancreas disease characterized by pan..[+] An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3. [-]
Schindler disease	NAGA deficiency; alpha-N-acetylgalactosaminidase d.. [+] NAGA deficiency; alpha-N-acetylgalactosaminidase 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	NAGA deficiency type 1; alpha-N-acetylgalactosamin.. [+] NAGA deficiency type 1; alpha-N-acetylgalactosaminidase 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	NAGA deficiency type 2; adult-onset alpha-N-acetyl.. [+] NAGA deficiency type 2; adult-onset alpha-N-acetylgalactosaminidase deficiency; alpha-N-acetylgalactosaminidase 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	NAGA deficiency type 3; alpha-N-acetylgalactosamin.. [+] NAGA deficiency type 3; alpha-N-acetylgalactosaminidase 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. [-]
pontocerebellar hypoplasia type 1	Norman disease; PCH1; pontocerebellar hypoplasia w.. [+] Norman disease; PCH1; pontocerebellar hypoplasia with anterior horn cell disease; pontocerebellar hypoplasia with infantile spinal muscular atrophy [-]	A pontocerebellar hypoplasia characterized by spin..[+] A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia. [-]

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