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Disease	Synonyms	Description	Articles
hereditary spastic paraplegia 54	SPG54; autosomal recessive spastic paraplegia 54; .. [+] SPG54; autosomal recessive spastic paraplegia 54; autosomal recessive spastic paraplegia type 54 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11. [-]
hereditary spastic paraplegia 55	SPG55; autosomal recessive spastic paraplegia 55; .. [+] SPG55; autosomal recessive spastic paraplegia 55; autosomal recessive spastic paraplegia type 55 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24. [-]
hereditary spastic paraplegia 56	SPG56; autosomal recessive spastic paraplegia 56; .. [+] SPG56; autosomal recessive spastic paraplegia 56; autosomal recessive spastic paraplegia type 56 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25. [-]
hereditary spastic paraplegia 57	SPG57; autosomal recessive spastic paraplegia 57; .. [+] SPG57; autosomal recessive spastic paraplegia 57; autosomal recessive spastic paraplegia type 57 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12. [-]
hereditary spastic paraplegia 5A	SPG5A; autosomal recessive spastic paraplegia 5A; .. [+] SPG5A; autosomal recessive spastic paraplegia 5A; autosomal recessive spastic paraplegia type 5A [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. [-]
hereditary spastic paraplegia 6	SPG6; autosomal dominant familial spastic parapleg.. [+] SPG6; autosomal dominant familial spastic paraplegia type 3; autosomal dominant spastic paraplegia 6; FSP3; autosomal dominant spastic paraplegia type 6 [-]	A hereditary spastic paraplegia that is usually ch..[+] A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2. [-]	1 articles
hereditary spastic paraplegia 61	SPG61; autosomal recessive spastic paraplegia 61; .. [+] SPG61; autosomal recessive spastic paraplegia 61; autosomal recessive spastic paraplegia type 61 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12. [-]
hereditary spastic paraplegia 62	SPG62; autosomal recessive spastic paraplegia 62; .. [+] SPG62; autosomal recessive spastic paraplegia 62; autosomal recessive spastic paraplegia type 62 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24. [-]
hereditary spastic paraplegia 63	SPG63; spastic paraplegia 63; autosomal recessive .. [+] spastic paraplegia 63; SPG63; autosomal recessive spastic paraplegia 63 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13. [-]
hereditary spastic paraplegia 64	SPG64; autosomal recessive spastic paraplegia 64; .. [+] SPG64; autosomal recessive spastic paraplegia 64; autosomal recessive spastic paraplegia type 64 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24. [-]
hereditary spastic paraplegia 7	SPG7; spastic paraplegia type 7; autosomal recessi.. [+] spastic paraplegia type 7; SPG7; autosomal recessive spastic paraplegia 7 [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24. [-]
hereditary spastic paraplegia 72A	SPG72; autosomal spastic paraplegia type 72	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2. [-]
hereditary spastic paraplegia 73	SPG73; autosomal dominant spastic paraplegia type .. [+] SPG73; autosomal dominant spastic paraplegia type 73; autosomal dominant spastic paraplegia 73 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13. [-]
hereditary spastic paraplegia 74	SPG74; autosomal recessive spastic paraplegia 74	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42. [-]
hereditary spastic paraplegia 75	SPG75; autosomal recessive spastic paraplegia 75; .. [+] SPG75; autosomal recessive spastic paraplegia 75; autosomal recessive spastic paraplegia type 75 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13. [-]
hereditary spastic paraplegia 76	SPG76; autosomal recessive spastic paraplegia 76	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13. [-]
hereditary spastic paraplegia 77	SPG77; autosomal recessive spastic paraplegia 77	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25. [-]
hereditary spastic paraplegia 8	SPG8; autosomal dominant spastic paraplegia 8; aut.. [+] SPG8; autosomal dominant spastic paraplegia 8; autosomal dominant spastic paraplegia type 8 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24. [-]
hereditary spastic paraplegia 9A	spastic paraparesis-amyopathy-cataracts-gastroesop.. [+] spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome; SPG9A; spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux; AD-SPG9A; autosomal dominant complex spastic paraplegia type 9A; Cataracts motor neuropathy-short stature-skeletal anomalies syndrome; cataracts with motor neuronopathy, short stature and skeletal abnormalities; autosomal dominant spastic paraplegia 9A [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. [-]
hereditary spastic paraplegia 9B	SPG9B; autosomal recessive complex spastic paraple.. [+] SPG9B; autosomal recessive complex spastic paraplegia type 9B; autosomal recessive spastic paraplegia 9B [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. [-]
hereditary spherocytosis type 1	SPH1; hereditary spherocytosis 1; HS1	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21. [-]
hereditary spherocytosis type 2	SPH2; hereditary spherocytosis 2; HS2	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3. [-]
hereditary spherocytosis type 3	SPH3; hereditary spherocytosis 3; HS3	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1. [-]
hereditary spherocytosis type 4	SPH4; hereditary spherocytosis 4; HS4	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31. [-]
hereditary spherocytosis type 5	SPH5; hereditary spherocytosis 5; HS5	A hereditary spherocytosis that has_material_basis..[+] A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2. [-]
Mononen-Karnes-Senac syndrome	short and abducted thumbs and great toes; Mononen .. [+] short and abducted thumbs and great toes; Mononen type brachydactyly [-]	A brachydactyly characterized by short, abducted t..[+] A brachydactyly characterized by short, abducted thumbs and great toes. [-]
hemochromatosis type 1	symptomatic form of hemochromatosis type 1; sympto.. [+] symptomatic form of hemochromatosis type 1; symptomatic form of HFE-related hereditary hemochromatosis; symptomatic form of classic hemochromatosis; HFE1 [-]	A hemochromatosis that has_material_basis_in homoz..[+] A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. [-]
platelet-type bleeding disorder 19	severe autosomal recessive macrothrombocytopenia; .. [+] severe autosomal recessive macrothrombocytopenia; BDPLT19 [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21. [-]
autosomal recessive distal hereditary motor neuronopathy 1	spinal muscular atrophy with respiratory distress .. [+] spinal muscular atrophy with respiratory distress type 1; SMARD1; SIANRF; severe infantile axonal neuropathy with respiratory failure type 1; autosomal recessive spinal muscular atrophy with respiratory distress; dHMN6; diaphragmatic spinal muscular atrophy; distal hereditary motor neuropathy type 6; distal-HMN type 6; DSMA1; autosomal recessive distal spinal muscular atrophy 1; distal spinal muscular atrophy 1 [-]	A spinal muscular atrophy characterized by autosom..[+] A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. [-]
autosomal recessive distal hereditary motor neuronopathy 2	spinal muscular atrophy Jerash type; DSMA2; dHMNJ; .. [+] spinal muscular atrophy Jerash type; DSMA2; dHMNJ; autosomal recessive distal spinal muscular atrophy 2; distal hereditary motor neuropathy Jerash type; distal spinal muscular atrophy 2 [-]	A spinal muscular atrophy characterized by autosom..[+] A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. [-]
postural orthostatic tachycardia syndrome	soldiers heart; familial orthostatic tachycardia d.. [+] soldiers heart; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; mitral valve prolapse syndrome; neurocirculatory asthenia; orhtostatic intolerance; orthostatic intolerance due to NET deficiency; postural tachycardia syndrome due to NET deficiency [-]	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. [-]
autosomal recessive spinocerebellar ataxia 21	SCAR21; acute infantile liver failure-cerebellar a.. [+] SCAR21; acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; autosomal recessive spinocerebellar ataxia 21 with hepatopathy [-]	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. [-]
autosomal dominant sensory ataxia 1	SNAX1; ADSA	A hereditary ataxia characterized by gait difficul..[+] A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. [-]
French Canadian Leigh disease	Saguenay Lac saint Jean type COX deficiency; Sague.. [+] Saguenay Lac saint Jean type COX deficiency; Saguenay Lac saint Jean type Leigh syndrome; French Canadian type COX deficiency; French Canadian type cytochrome c oxidase deficiency; French Canadian type Leigh syndrome; mitochondrial complex IV deficiency nuclear type 5 [-]	A cytochrome-c oxidase deficiency disease characte..[+] A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21. [-]
autosomal dominant adult-onset proximal spinal muscular atrophy	SMAFK; autosomal dominant adult proximal spinal mu.. [+] SMAFK; autosomal dominant adult proximal spinal muscular atrophy; autosomal dominant adult-onset proximal SMA; autosomal dominant late-onset spinal muscular atrophy, Finkel type; Finkel disease; Finkel late-adult type SMA [-]	A spinal muscular atrophy characterized by adult-o..[+] A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13. [-]
X-linked distal spinal muscular atrophy 3	SMAX3; ATP7A-related distal motor neuropathy; DSMA.. [+] SMAX3; ATP7A-related distal motor neuropathy; DSMAX; X-linked distal hereditary motor neuropathy type 3; X-linked dSMA3; X-linked dHMN3; X-linked recessive distal spinal muscular atrophy [-]	A spinal muscular atrophy characterized by slowly ..[+] A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. [-]
autosomal dominant distal hereditary motor neuronopathy 1	spinal Charcot-Marie-Tooth disease 1; autosomal do.. [+] spinal Charcot-Marie-Tooth disease 1; autosomal dominant distal juvenile spinal muscular atrophy type 1; dHMN1; distal hereditary motor neuropathy type I; HMN I; distal hereditary motor neuronopathy type 1 [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. [-]
autosomal dominant distal hereditary motor neuronopathy 2	spinal Charcot-Marie-Tooth disease IIA; HMN II; HM.. [+] spinal Charcot-Marie-Tooth disease IIA; HMN II; HMN2; distal hereditary motor neuropathy type II; autosomal dominant adult spinal muscular atrophy IIA; distal hereditary motor neuronopathy type 2; distal hereditary motor neuronopathy type 2A; distal hereditary motor neuropathy type IIA; HMN IIA; HMN2A [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. [-]
vestibular schwannomatosis	schwannomatosis 3; SWN3; SWNV; ACN; bilateral acou.. [+] SWNV; SWN3; schwannomatosis 3; ACN; bilateral acoustic neurinoma; bilateral acoustic schwannomas; central neurofibromatosis; familial acoustic neuromas; NF2; BANF; bilateral acoustic neurofibromatosis; neurofibromatosis type II; acoustic neurofibromatosis; neurofibromatosis 2; NF2-related schwannomatosis [-]	A schwannomatosis characterized by bilateral vesti..[+] A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. [-]
isolated sulfite oxidase deficiency	sulfocysteinuria	An inherited metabolic disorder characterized by i..[+] An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2. [-]
histiocytosis-lymphadenopathy plus syndrome	sinus histiocytosis and massive lymphadenopathy; S.. [+] sinus histiocytosis and massive lymphadenopathy; SHML; Faisalabad histiocytosis; familial Rosai-Dorfman disease; H syndrome; histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness; histiocytosis with joint contractures and sensorineural deafness; HJCD; PHID; pigmented hypertrichosis with insulin-dependent diabetes mellitus; cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss; Rosai–Dorfman disease [-]	A syndrome characterized by histiocytosis, hyperpi..[+] A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. [-]
craniofacial-deafness-hand syndrome	Sommer-Young-Wee-Frye syndrome; CDHS	A syndrome characterized by a flat facial profile,..[+] A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1. [-]
epidermolysis bullosa simplex with mottled pigmentation	speckled hyperpigmentation with punctate palmoplan.. [+] speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering; EBSMP; Epidermolysis bullosa simplex-MP [-]	An epidermolysis bullosa simplex characterized by ..[+] An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13. [-]
Laurin-Sandrow syndrome	Sandrow syndrome; miccor hands and feet with nasal.. [+] Sandrow syndrome; miccor hands and feet with nasal defects; MIPduplication of fibuland ulna with absence of tibia and radius; mirror hands and feets-nasal defects syndrome; mirror-image polydactyly; tetramelic mirror-image polydactyly; TMIP [-]	A dysostosis characterized by polysyndactyly of ha..[+] A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3. [-]
ischiocoxopodopatellar syndrome	small patella syndrome; SPS; Scott-Taor syndrome; .. [+] Scott-Taor syndrome; SPS; small patella syndrome; congenital coxa vara, patella aplasia and tarsal synostosis; coxo-podo-patellar syndrome; coxopodipatellar syndrome; ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension; ischiopatellar dysplasia; patella aplasia, coxa vara, and tarsal synostosis [-]	A dysostosis characterized by hypoplasia or aplasi..[+] A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2. [-]	1 articles
mucopolysaccharidosis type IIIC	Sanfilippo syndrome type C; Acetyl-CoA alpha-gluco.. [+] Sanfilippo syndrome type C; Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency; Heparan-alpha-glucosaminide N-acetyltransferase deficiency; HGSNAT deficiency; MPS3C; MPSIIIC; Mucopolysaccharidosis type 3C; mucopolysaccharidosis type IIIC (Sanfilippo C) [-]	A mucopolysaccharidosis III that has_material_basi..[+] A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. [-]
mucopolysaccharidosis type IIIB	Sanfilippo syndrome type B; MPS3B; MPSIIIB; Mucopo.. [+] Sanfilippo syndrome type B; MPS3B; MPSIIIB; Mucopolysaccharidosis type 3B; mucopolysaccharidosis type IIIB (Sanfilippo B); N-acetyl-alpha-glucosaminidase deficiency; Mucopoly-saccharidosis type 3B; NAGLU deficiency [-]	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 IIIA	Sanfilippo syndrome type A; MPS3A; MPSIIIA; mucopo.. [+] Sanfilippo syndrome type A; MPS3A; MPSIIIA; mucopolysaccharidosis III-A; mucopolysaccharidosis type IIIA (Sanfilippo A); heparan sulfamidase deficiency; mucopolysaccharidosis type 3A [-]	A mucopolysaccharidosis III characterized by sever..[+] A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. [-]
congenital dyserythropoietic anemia type II	SEC23B-CDG; CDA II; CDA type II; Congenital dysery.. [+] SEC23B-CDG; CDA II; CDA type II; Congenital dyserythropoietic anaemia type 2; congenital dyserythropoietic anaemia type II; Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas); CDA type 2; Congenital dyserythropoietic anemia type 2; CDAN2 [-]	A congenital dyserythropoietic anemia characterize..[+] A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23. [-]
mucopolysaccharidosis type IIID	Sanfilippo syndrome D; Sanfilippo syndrome type D; .. [+] Sanfilippo syndrome type D; Sanfilippo syndrome D; GNS deficiency; MPS IIID; N-acetylglucosamine-6-sulfatase deficiency; Mucopolysaccharidosis type 3D; MPS3D [-]	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. [-]

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