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Disease	Synonyms	Description	Articles
bradyopsia 2	prolonged electroretinal response suppression 2	A braydopsia that has_material_basis_in homozygous..[+] A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13. [-]
early onset progressive encephalopathy with brain atrophy and thin corpus callosum	PEBAT; early-onset progressive encephalopathy with.. [+] PEBAT; early-onset progressive encephalopathy with brain atrophy and thin corpus callosum [-]	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25. [-]
North Carolina macular dystrophy	progressive foveal dystrophy; central areolar pigm.. [+] progressive foveal dystrophy; central areolar pigment epithelial dystrophy; central retinal pigment epithelial dystrophy; MCDR1; NCMD; retinal macular dystrophy 1 [-]	A retinal macular dystrophy characterized by limit..[+] A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. [-]
classic dopamine transporter deficiency syndrome	PKDYS1; classic DTDS; infantile parkinsonism-dysto.. [+] PKDYS1; classic DTDS; infantile parkinsonism-dystonia 1 [-]	A dopamine transporter deficiency syndrome charact..[+] A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. [-]
infantile parkinsonism-dystonia 2	PKDYS2; Brain dopamine-serotonin vesicular transpo.. [+] PKDYS2; Brain dopamine-serotonin vesicular transport disease [-]	A movement disease characterized by parkinsonism, ..[+] A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3. [-]
chromosome 16p11.2 deletion syndrome, 593-kb	Proximal 16p11.2 microdeletion syndrome	A chromosomal deletion syndrome characterized by l..[+] A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb). [-]
early-onset vitamin B6-dependent epilepsy 4	PDE-ALDH7A1; AASA dehydrogenase deficiency; antiqu.. [+] PDE-ALDH7A1; AASA dehydrogenase deficiency; antiquitin deficiency; EPEO4 [-]	A pyridoxine-dependent epilepsy that has_material_..[+] A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. [-]
metaphyseal dysplasia	Pyle's disease; Pyle-Cohn syndrome; Bakwin-Krida s.. [+] Pyle-Cohn syndrome; Pyle's disease; Bakwin-Krida syndrome [-]	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone. [-]
Albright's hereditary osteodystrophy	pseudohypoparathyroidism type 1a; Albright heredit.. [+] pseudohypoparathyroidism type 1a; Albright hereditary osteodystrophy [-]	An pseudohypoparathyroidism that has_material_basi..[+] An pseudohypoparathyroidism that has_material_basis_in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face. [-]
mucolipidosis III alpha/beta	pseudo-Hurler polydystrophy; mucolipidosis III	A mucolipidosis that has_material_basis_in mutatio..[+] A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase. [-]	1 articles
Alpers-Huttenlocher syndrome	progressive sclerosing poliodystrophy; Alpers dise.. [+] progressive sclerosing poliodystrophy; Alpers disease; Alpers progressive infantile poliodystrophy; Alpers syndrome; Alpers-Huttenlocher syndrome; Alpers' disease or gray-matter degeneration; Diffuse Cerebral Sclerosis of Schilder; mitochondrial DNA depletion syndrome 4a; Alper's syndrome [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26. [-]
mitochondrial DNA depletion syndrome 11	progressive external ophthalmoplegia-myopathy-emac.. [+] progressive external ophthalmoplegia-myopathy-emaciation syndrome [-]	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11. [-]
thiopurine S-methyltransferase deficiency	poor metabolism of thiopurines-1; TPMT deficiency; .. [+] poor metabolism of thiopurines-1; TPMT deficiency [-]	An inherited metabolic disease that is characteriz..[+] An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. [-]
malignant pheochromocytoma	Pheochromocytoma, malignant	An adrenal medulla cancer that arises within the a..[+] An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones. [-]
congenital disorder of glycosylation Ia	PMM2-congenital disorder of glycosylation; congeni.. [+] PMM2-congenital disorder of glycosylation; congenital disorder of glycosylation 1a [-]	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13. [-]
Heimler syndrome 1	peroxisomal biogenesis disorder 1C; Deafness-ename.. [+] peroxisomal biogenesis disorder 1C; Deafness-enamel hypoplasia-nail defects syndrome [-]	A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. [-]
Heimler syndrome 2	peroxisomal biogenesis disorder 4C	A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21. [-]
B-lymphoblastic leukemia/lymphoma	precursor B lymphoblastic lymphoma/leukemia; B lym.. [+] precursor B lymphoblastic lymphoma/leukemia; B lymphoblastic leukemia/lymphoma; B-ALL [-]	A B-cell acute lymphoblastic leukemia that is char..[+] A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. [-]
multisystem inflammatory syndrome in children	paediatric inflammatory multisystemic syndrome; MI.. [+] paediatric inflammatory multisystemic syndrome; MIS-C; multisystem inflammatory disorder in children and adolescents [-]	A Coronavirus infectious disease that is character..[+] A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19. [-]
congenital myopathy 6	proximal myopathy and ophthalmoplegia; inclusion b.. [+] proximal myopathy and ophthalmoplegia; inclusion body myopathy 3 [-]	A congenital myopathy that is characterized by chi..[+] A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. [-]
early-onset vitamin B6-dependent epilepsy 1	PDE-PLPBP; early-onset vitamin B6-dependent epilep.. [+] PDE-PLPBP; early-onset vitamin B6-dependent epilepsy; EPEO1 [-]	A pyridoxine-dependent epilepsy that has_material_..[+] A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. [-]
lung sarcomatoid carcinoma	pulmonary sarcomatoid carcinoma; Sarcomatoid carci.. [+] pulmonary sarcomatoid carcinoma; Sarcomatoid carcinoma of the lung [-]	A lung carcinoma that is characterized by the pres..[+] A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. [-]
childhood acute megakaryoblastic leukemia	pediatric non-Down syndrome acute megakaryoblastic.. [+] pediatric non-Down syndrome acute megakaryoblastic leukemia [-]	An acute megakaryocytic leukemia that is character..[+] An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. [-]
childhood low-grade glioma	pediatric low-grade glioma	A low-grade glioma that occurs in children and enc..[+] A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology. [-]
long COVID	PASC; post-acute sequelae of SARS-CoV-2 infection; .. [+] post-acute sequelae of SARS-CoV-2 infection; PASC; post-COVID syndrome; chronic COVID-19 [-]	A Coronavirus infectious disease that is character..[+] A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia. [-]
immunoglobulin light chain amyloidosis	Primary systemic amyloidosis; Primary systemic AL .. [+] Primary systemic amyloidosis; Primary systemic AL amyloidosis; Primary AL amyloidosis; AL amyloidosis; Light chain amyloidosis; Amyloidosis primary systemic; Systemic AL amyloidsis [-]	An amyloidosis that is characterized by misfolded ..[+] An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. [-]
B-cell prolymphocytic leukemia	Prolymphocytic leukemia, B-cell type; B Cell Proly.. [+] Prolymphocytic leukemia, B-cell type; B Cell Prolymphocytic Leukemia [-]	A prolymphocytic leukemia that is characterized by..[+] A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood. [-]
T-cell prolymphocytic leukemia	Prolymphocytic leukemia, T-cell type; T Cell Proly.. [+] Prolymphocytic leukemia, T-cell type; T Cell Prolymphocytic Leukemia [-]	A prolymphocytic leukemia that is characterized by..[+] A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. [-]
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	Pascual-Castroviejo syndrome; Cerebro-facio-thorac.. [+] Pascual-Castroviejo syndrome; Cerebro-facio-thoracic dysplasia; Cerebrofaciothoracic dysplasia; TMCO1 defect syndrome [-]	A syndrome that is characterized by abnormal devel..[+] A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. [-]	1 articles
Wiedemann-Rautenstrauch syndrome	PROGEROID SYNDROME, NEONATAL; Neonatal progeroid s.. [+] PROGEROID SYNDROME, NEONATAL; Neonatal progeroid syndrome [-]	A progeroid syndrome that is characterized by intr..[+] A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. [-]
Nestor-Guillermo progeria syndrome	Progeria syndrome, childhood-onset, with osteolysi.. [+] Progeria syndrome, childhood-onset, with osteolysis [-]	A progeroid syndrome that is characterized by lipo..[+] A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age. [-]
ataxia-telangiectasia-like disorder-2	PCNA-related progressive neurodegenerative photose.. [+] PCNA-related progressive neurodegenerative photosensitivity syndrome [-]	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12. [-]
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome	PHRINL syndrome	A syndrome that is characterized in infants showin..[+] A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. [-]
renal coloboma syndrome	papillo-renal syndrome, optic nerve coloboma with .. [+] papillo-renal syndrome, optic nerve coloboma with renal disease; papillorenal syndrome; CAKUT with or without ocular abnormalities; congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; optic coloboma, vesicoureteral reflux and renal anomalies; renal-coloboma syndrome with macular abnormalities; coloboma of optic nerve with renal disease [-]	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. [-]
sitosterolemia	phytosterolemia	An intestinal disease that is characterized by aut..[+] An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21. [-]
CINCA Syndrome	Prieur-Griscelli syndrome; chronic infantile neuro.. [+] Prieur-Griscelli syndrome; chronic infantile neurological cutaneous articular syndrome; chronic neurologic cutaneous and articular syndrome; cryopyrin-associated periodic syndrome 3; neonatal-onset multisystem inflammatory disease; NOMID syndrome; IOMID syndrome; infantile-onset multisystem inflammatory disease [-]	An autoimmune disease characterized by neonatal on..[+] An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. [-]
episodic kinesigenic dyskinesia 1	Paroxysmal kinesigenic choreoathetosis	A dystonia characterized by recurrent brief involu..[+] A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11. [-]
hypogonadotropic hypogonadism 23 with or without anosmia	Pasqualini syndrome; 46,XY disorder of sex develop.. [+] Pasqualini syndrome; 46,XY disorder of sex development due to LHB deficiency; 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency; 46,XY DSD due to LHB deficiency; 46,XY DSD due to luteinizing hormone subunit beta deficiency; leydig cell hypoplasia due to LHB deficiency; Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency; fertile eunuch syndrome [-]	A hypogonadotropic hypogonadism that has_material_..[+] A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. [-]
lethal congenital glycogen storage disease of heart	phosphorylase kinase deficiency of heart; fatal co.. [+] phosphorylase kinase deficiency of heart; fatal congenital nonlysosomal cardiac glycogenosis; fatal congenital hypertrophic cardiomyopathy due to glycogenosis; fatal congenital hypertrophic cardiomyopathy due to GSD; fatal congenital nonlysosomal cardiac glycogenosis [-]	A glycogen storage disease characterized by glycog..[+] A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. [-]
BH4-deficient hyperphenylalaninemia A	PTS deficiency; HPABH4A; hyperphenylalaninemia due.. [+] PTS deficiency; HPABH4A; hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency; tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency [-]	A tetrahydrobiopterin (BH4)-deficient hyperphenyla..[+] A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. [-]
Nasu-Hakola disease	presenile dementia with bone cysts; PLO-SL; PLOSL; .. [+] PLOSL; PLO-SL; presenile dementia with bone cysts; progressive dementia with lipomembranous polycystic osteodysplasia; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; NHD; brain-bone-fat disease [-]	A syndrome that is characterized by progressive pr..[+] A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21. [-]
Sorsby's fundus dystrophy	pseudoinflammatory fundus dystrophy of Sorsby; hem.. [+] pseudoinflammatory fundus dystrophy of Sorsby; hemorrhagic macular dystrophy; SFD [-]	A hereditary retinal dystrophy characterized by au..[+] A hereditary retinal dystrophy characterized by autosomal dominant inheritance of loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life that has_material_basis_in heterozygous mutation in the TIMP3 gene on chromosome 22q12. [-]
camptodactyly-arthropathy-coxa vara-pericarditis syndrome	pericarditis-arthropathy-camptodactyly syndrome; P.. [+] pericarditis-arthropathy-camptodactyly syndrome; PAC syndrome; CACP; CACP syndrome; congenital familial hypertrophic synovitis; familial fibrosing serositis; arthropathy-camptodactyly syndrome; camptodactyly-arthropathy-pericarditis syndrome; Jacobs syndrome; CAP syndrome [-]	A syndrome that is characterized by congenital or ..[+] A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. [-]
Carvajal syndrome	palmoplantar keratoderma with left ventricular car.. [+] palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; Carvajal syndrome; DCWHK; dilated cardiomyopathy with woolly hair and keratoderma [-]	A Naxos disease that is characterized by dilated c..[+] A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24. [-]
cortical dysplasia-focal epilepsy syndrome	Pitt-Hopkins-like syndrome-1; PTHSL1; CDFE syndrom.. [+] PTHSL1; Pitt-Hopkins-like syndrome-1; CDFE syndrome; CDFES [-]	A brain disease that is characterized by cortical ..[+] A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36. [-]
complex cortical dysplasia with other brain malformations 7	polymicrogyria due to TUBB2B mutation; CDCBM7	A complex cortical dysplasia with other brain malf..[+] A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. [-]
brachyolmia-amelogenesis imperfecta syndrome	platyspondyly with amelogenesis imperfecta; dental.. [+] platyspondyly with amelogenesis imperfecta; dental anomalies and short stature; STHAG6; DASS; selective tooth agenesis 5 [-]	A syndrome characterized by skeletal dysplasia (br..[+] A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. [-]
achromatopsia 3	Pingelapese blindness; ACHM1; RMCH1; rod monochrom.. [+] Pingelapese blindness; ACHM1; RMCH1; rod monochromacy 1; ACHM3; rod monochromatism 1 [-]	An achromatopsia that has_material_basis_in homozy..[+] An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. [-]	1 articles
asphyxiating thoracic dystrophy 3	polydactyly with neonatal chondrodystrophy, type I.. [+] polydactyly with neonatal chondrodystrophy, type III; polydactyly with neonatal chondrodystrophy, type I; ATD3; Saldino-Noonan syndrome; short rib-polydactyly syndrome, type IIB; short-rib thoracic dysplasia 3 with or without polydactyly; SRPS1; SRPS2B; SRTD3; Verma-Naumoff syndrome; short rib-polydactyly syndrome, type I; SRPS3 [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. [-]
short-rib thoracic dysplasia 6 with or without polydactyly	polydactyly with neonatal chondrodystrophy, type I.. [+] polydactyly with neonatal chondrodystrophy, type II; Majewski syndrome; short rib-polydactyly syndrome type IIA; SRTD6; SRPS2A [-]	An asphyxiating thoracic dystrophy that has_materi..[+] An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33. [-]

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