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Disease	Synonyms	Description	Articles	Phenotypes
familial lipase maturation factor 1 deficiency	LPL and HL deficiency; LPL and HTGL deficiency; li.. [+] LPL and HTGL deficiency; LPL and HL deficiency; lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency; combined lipase deficiency; familial LMF1 deficiency [-]	A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3. [-]
SHORT syndrome	Lipodystrophy-Rieger anomaly-diabetes syndrome; Aa.. [+] Lipodystrophy-Rieger anomaly-diabetes syndrome; Aarskog-Ose-Pande syndrome; Rieger anomaly-partial lipodystrophy syndrome; short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay [-]	A syndrome of multiple anomalies whose name stands..[+] A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. [-]
combined oxidative phosphorylation deficiency 31	lethal left ventricular non-compaction-seizures-hy.. [+] lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome; COXPD31 [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12. [-]
combined oxidative phosphorylation deficiency 12	LTBL; leukoencephalopathy-thalamus and brainstem a.. [+] LTBL; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome; leukoencephalopathy with thalamus and brainstem involvement and high lactate; COXPD12 [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. [-]
Torrance type platyspondylic dysplasia	lethal short-limbed platyspondylic dwarfism, Torra.. [+] lethal short-limbed platyspondylic dwarfism, Torrance type; platyspondylic dysplasia, Torrance-Luton type; platyspondylic lethal skeletal dysplasia, Torrance type; PLSD-T; PLSDT; thanatophoric dysplasia, Torrance variant [-]	An osteochondrodysplasia characterized by decrease..[+] An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. [-]
gnathodiaphyseal dysplasia	Levin syndrome 2; GDD; gnathodiaphyseal sclerosis; .. [+] Levin syndrome 2; GDD; gnathodiaphyseal sclerosis; osteogenesis imperfecta with unusual skeletal lesions; osteogenesis imperfecta, Levin type [-]	An osteochondrodysplasia characterized by cementoo..[+] An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3. [-]
Sturge-Weber syndrome	leptomeningeal angiomatosis; encephalofacial angio.. [+] leptomeningeal angiomatosis; encephalofacial angiomatosis; encephalotrigeminal angiomatosis; meningeal capillary angiomatosis; Sturge-Weber-Dimitri syndrome; Sturge-Weber-Krabbe syndrome; SWS; fourth phacomatosis; Sturge-Weber-Krabbe angiomatosis [-]	A vascular disease characterized by intracranial v..[+] A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2. [-]
familial isolated trichomegaly	long eyelashes; TCMGLY	An eyelid disease characterized by prolonged anage..[+] An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21. [-]
Gordon Holmes syndrome	luteinizing hormone-releasing hormone deficiency w.. [+] luteinizing hormone-releasing hormone deficiency with ataxia; LHRH deficiency and ataxia; CAHH; cerebellar ataxia-hypogonadism syndrome; GDHS [-]	An inherited metabolic disorder characterized by p..[+] An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1. [-]
primary hyperoxaluria type 2	L-glyceric aciduria; oxalosis IIglyoxylate reducta.. [+] L-glyceric aciduria; oxalosis IIglyoxylate reductase/hydroxypyruvate reductase deficiency; D-glycerate dehydrogenase deficiency; HP2; glyoxylate reductase/hydroxypyruvate reductase deficiency; oxalosis II [-]	A primary hyperoxaluria characterized by elevated ..[+] A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. [-]
Waisman syndrome	Laxova-Opitz syndrome; early-onset parkinsonism-in.. [+] Laxova-Opitz syndrome; early-onset parkinsonism-intellectual disability syndrome [-]	A syndrome characterized by delayed psychomotor de..[+] A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28. [-]
syndromic microphthalmia 1	Lenz type microphthalmia; Lenz microphthalmia; Len.. [+] Lenz microphthalmia; Lenz type microphthalmia; Lenz dysplasia; MCOPS1; syndromic microphthalmia 4 [-]	A syndromic microphthalmia characterized by unilat..[+] A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. [-]
MLS syndrome	linear skin defects with multiple congenital anoma.. [+] linear skin defects with multiple congenital anomalies [-]	A syndrome characterized by linear skin defects an..[+] A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities. [-]
Schinzel type phocomelia	limb/pelvis-hypoplasia/aplasia syndrome; LPHAS; AA.. [+] LPHAS; limb/pelvis-hypoplasia/aplasia syndrome; AARRS; absence of ulna and fibula with severe limb deficiency; Al Awadi-Raas-Rothschild syndrome; Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome; aplasia/hypoplasia of limbs and pelvis; congenital absence of ulna and fibula; 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. [-]
X-linked lissencephaly 1	lissencephaly type 1 due to doublecortin gene muta.. [+] lissencephaly type 1 due to doublecortin gene mutation; XLIS1 [-]	A lissencephaly characterized by classic lissencep..[+] A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23. [-]
muscular dystrophy-dystroglycanopathy type C12	Limb-girdle muscular dystrophy due to POMK deficie.. [+] Limb-girdle muscular dystrophy due to POMK deficiency; LGMD due to POMK deficiency; MDDGC12; muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related [-]	A muscular dystrophy-dystroglycanopathy characteri..[+] A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21. [-]
muscular dystrophy-dystroglycanopathy type C8	LGMDR24; autosomal recessive limb-girdle muscular .. [+] LGMDR24; autosomal recessive limb-girdle muscular dystrophy 24; 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. [-]

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