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Disease	Synonyms	Description	Articles
hypotrichosis 5	Muhh2; Marie Unna Hereditary Hypotrichosis 2; Hypt.. [+] Marie Unna Hereditary Hypotrichosis 2; Muhh2; Hypt5 [-]	A hypotrichosis that has_material_basis_in a mutat..[+] A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3. [-]
hypotrichosis 6	Monilethrix-like hypotrichosis; autosomal recessiv.. [+] Monilethrix-like hypotrichosis; autosomal recessive localized hypotrichosis; Hypt6; Lah1; Hypotrichosis, Localized, Autosomal Recessive 1 [-]	A hypotrichosis that has_material_basis_in a autos..[+] A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1. [-]
Warburg micro syndrome 1	Micro Syndrome 1; WARBM1	A Warburg micro syndrome that has_material_basis_i..[+] A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21. [-]
Warburg micro syndrome 2	Micro Syndrome 2; WARBM2	A Warburg micro syndrome that has_material_basis_i..[+] A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. [-]
Warburg micro syndrome 3	Micro Syndrome 3; WARBM3	A Warburg micro syndrome that has_material_basis_i..[+] A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12. [-]
Warburg micro syndrome 4	Micro Syndrome 4; WARBM4	A Warburg micro syndrome that has_material_basis_i..[+] A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13. [-]
neurodegeneration with brain iron accumulation 4	MPAN; Mitochondrial Protein-Associated Neurodegene.. [+] MPAN; Mitochondrial Protein-Associated Neurodegeneration; NBIA due to C19orf12 mutation; NBIA4; Neurodegeneration with brain iron accumulation due to C19orf12 mutation; Neurodegeneration with brain iron accumulation type 4 [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12. [-]
posterior polymorphous corneal dystrophy 1	Maumenee Corneal Dystrophy; Ched1; Corneal Endothe.. [+] Maumenee Corneal Dystrophy; Ched1; Corneal Endothelial Dystrophy 1, Autosomal Dominant; Ppcd1 [-]	A posterior polymorphous corneal dystrophy that ha..[+] A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. [-]
congenital stationary night blindness 1A	myopia-night blindness; congenital stationary nigh.. [+] myopia-night blindness; congenital stationary night blindness 1A X-linked; congenital stationary night blindness with myopia; CSNB1A; NBMI; complete CSNB X-linked; hemeralopia-myopia [-]	A congenital stationary night blindness that has_m..[+] A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. [-]
adult hypophosphatasia	mild hypophosphatasia	A hypophosphatasia that has_material_basis_in a he..[+] A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12. [-]
autosomal recessive osteopetrosis 3	marble brain disease; autosomal recessive osteopet.. [+] marble brain disease; autosomal recessive osteopetrosis 3 with renal tubular acidosis; carbonic anhydrase II deficiency; Guibaud-Vainsel syndrome; osteopetrosis with renal tubular acidosis; OPTB3 [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. [-]
autosomal recessive osteopetrosis 2	mild autosomal recessive form osteopetrosis; OPTB2.. [+] mild autosomal recessive form osteopetrosis; OPTB2; osteoclast-poor osteopetrosis [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. [-]
brachydactyly type A2	Mohr-Wriedt type brachydactyly; BDA2; brachymesoph.. [+] Mohr-Wriedt type brachydactyly; BDA2; brachymesophalangy II [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. [-]
hypermethioninemia due to adenosine kinase deficiency	MRT8; ADK hypermethioninemia; autosomal recessive .. [+] MRT8; ADK hypermethioninemia; autosomal recessive mental retardation 8; hypermethioninemia encephalopathy due to adenosine kinase deficiency; hypermethioninemia encephalopathy due to ADK deficiency [-]	A hypermethioninemia characterized by autosomal re..[+] A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. [-]
glycogen storage disease IXd	muscle phosphorylase kinase deficiency; glycogen s.. [+] muscle phosphorylase kinase deficiency; glycogen storage disease due to muscle phosphorylase kinase deficiency; glycogen storage disease type 9D; glycogen storage disease type IXd; glycogenosis due to muscle phosphorylase kinase deficiency; glycogenosis type 9D; glycogenosis type IXd; glycogenosis type IXe; GSD IXd; GSD type 9D; GSD type 9E; GSD type IXe; X-linked muscke glycogenosis; glycogen storage disease type 9E; glycogen storage disease type IXe; glycogenosis type 9E; GSD due to muscle phosphorylase kinase deficiency; GSD type IXd; GSD9D [-]	A glycogen storage disease IX that is characterize..[+] A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. [-]
hyperphosphatemic familial tumoral calcinosis	morbus Teutschlaender; cortical hyperostosis with .. [+] morbus Teutschlaender; cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; HHS; hypercalcemic tumoral calcinosis; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; lipocalcinogranulomatosis; PHPTC; primary hyperphosphatemic tumoral calcinosis; HFTC; hyperostosis with hyperphosphatemia; hyperphosphatemia tumoral calcinosis; tumoral calcinosis with hyperphosphatemia [-]	A calcinosis characterized by autosomal recessive ..[+] A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. [-]
postural orthostatic tachycardia syndrome	mitral valve prolapse syndrome; familial orthostat.. [+] mitral valve prolapse syndrome; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; neurocirculatory asthenia; orhtostatic intolerance; orthostatic intolerance due to NET deficiency; postural tachycardia syndrome due to NET deficiency; soldiers heart [-]	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. [-]
spermatogenic failure 9	male infertility due to round-headed spermatozoa; .. [+] male infertility due to round-headed spermatozoa; male infertility due to globozoospermia; globozoospermia [-]	A male infertility characterized by round-headed s..[+] A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14. [-]
French Canadian Leigh disease	mitochondrial complex IV deficiency nuclear type 5.. [+] mitochondrial complex IV deficiency nuclear type 5; French Canadian type COX deficiency; French Canadian type cytochrome c oxidase deficiency; French Canadian type Leigh syndrome; Saguenay Lac saint Jean type Leigh syndrome; Saguenay Lac saint Jean type COX deficiency [-]	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. [-]
familial hemiplegic migraine 1	MHP1; familial hemiplegic migraine1 with progressi.. [+] MHP1; familial hemiplegic migraine1 with progressive cerebellar ataxia; FHM1 [-]	A familial hemiplegic migraine that is commonly as..[+] A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13. [-]
familial hemiplegic migraine 3	MHP3; FHM3	A familial hemiplegic migraine that has_material_b..[+] A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3. [-]
distal myopathy 3	MPD3; distal myopathy 3; distal myopathy type 3; d.. [+] MPD3; distal myopathy 3; distal myopathy type 3; distal muscular dystrophy 3 [-]	A distal myopathy that is characterized by adult o..[+] A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13. [-]
distal myopathy 4	MPD4; distal ABD-filaminopathy; distal myopathy 4; .. [+] MPD4; distal ABD-filaminopathy; distal myopathy 4; distal myopathy with posterior leg and anterior hand involvement; distal muscular dystrophy 4 [-]	A distal myopathy that has_material_basis_in heter..[+] A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32. [-]
centronuclear myopathy X-linked	MTM1; myotubular myopathy 1; CNMX; X-linked myotub.. [+] myotubular myopathy 1; MTM1; CNMX; X-linked myotubular myopathy; XLCNM; XLMTM [-]	A centronuclear myopathy that has_material_basis_i..[+] A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. [-]
congenital muscular dystrophy-dystroglycanopathy type A	MDDGA; congenital muscular alpha-dystroglycanopath.. [+] MDDGA; congenital muscular alpha-dystroglycanopathy with brain and eye anomalies; klissencephaly type 2 with muscular and ocular involvement [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. [-]
postaxial acrofacial dysostosis	mandibulfacial dysostosis with postaxial limb anom.. [+] mandibulfacial dysostosis with postaxial limb anomalies; Miller syndrome; acrofacial dysostosis, Genee-Wiedmann type; POADS; Postaxial acrodysostosis [-]	A syndrome characterized by severe micrognathia, c..[+] A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2. [-]
hyaline body myopathy	myosin storage myopathy	A congenital myopathy characterized by accumulatio..[+] A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. [-]
autosomal recessive hyaline body myopathy	Myopathy, myosin storage, autosomal recessive; MSM.. [+] Myopathy, myosin storage, autosomal recessive; MSMB; congenital myopathy 7B [-]	A hyaline body myopathy that has_material_basis_in..[+] A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2. [-]
autosomal dominant hyaline body myopathy	Myopathy, myosin storage, autosomal dominant; myop.. [+] Myopathy, myosin storage, autosomal dominant; myopathy with lysis of type I myofibrils; MSMA; congenital myopathy 7A [-]	A hyaline body myopathy that has_material_basis_in..[+] A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2. [-]
intellectual disability-severe speech delay-mild dysmorphism syndrome	Mental retardation with language impairment and wi.. [+] Mental retardation with language impairment and with or without autistic features; FOXP1 Haploinsufficiency; FOXP1 syndrome; FOXP1-Related Neurodevelopmental Disorder [-]	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13. [-]
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	Myopathy, areflexia, respiratory distress, and dys.. [+] Myopathy, areflexia, respiratory distress, and dysphagia, early-onset; EMARDD; congenital myopathy 10A [-]	A congenital myopathy characterized by proximal an..[+] A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2. [-]
congenital leptin deficiency	morbid obesity; LEPD; obesity due to congenital le.. [+] morbid obesity; LEPD; obesity due to congenital leptin deficiency; leptin deficiency or dysfunction [-]	A syndrome characterized by severe early-onset obe..[+] A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. [-]
Vohwinkel syndrome	Mutilating keratoderma plus deafness; mutilating k.. [+] Mutilating keratoderma plus deafness; mutilating keratoderma of Vohwinkel; congenital deafness with keratopachydermia and constrictions fo fingers and toes; keratoderma hereditarium mutilans; KHM; VOWNKL; PPK mutilans and deafness [-]	A syndrome characterized by severe, honeycomb-patt..[+] A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. [-]
Laurin-Sandrow syndrome	mirror-image polydactyly; mirror hands and feets-n.. [+] mirror-image polydactyly; mirror hands and feets-nasal defects syndrome; MIPduplication of fibuland ulna with absence of tibia and radius; miccor hands and feet with nasal defects; Sandrow syndrome; 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. [-]
familial progressive hyperpigmentation with or without hypopigmentation	MUH; melanosis universalis hereditaria; FPHH	A skin disease characterized by progressive, diffu..[+] A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32. [-]
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3	multisystem proteinopathy 3; MSP3; IBMPFD3	An inclusion body myopathy with Paget disease of b..[+] An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13. [-]
progressive myoclonus epilepsy 4	Myoclonus-nephropathy syndrome; action myoclonus-r.. [+] Myoclonus-nephropathy syndrome; action myoclonus-renal failure syndrome; AMRF; EPM4 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1. [-]
progressive myoclonus epilepsy 7	Myoclonus epilepsy and ataxia due to potassium cha.. [+] Myoclonus epilepsy and ataxia due to potassium channel mutation; MEAK; EPM7; PME type 7; Progressive myoclonic epilepsy due to KV3.1 deficiency; Progressive myoclonus epilepsy type 7 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. [-]	1 articles
combined oxidative phosphorylation deficiency 10	mitochondrial hypertrophic cardiomyopathy with lac.. [+] mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency; COXPD10; infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. [-]
combined oxidative phosphorylation deficiency 6	Mitochondrial encephalomyopathy due to COXPD6; Mit.. [+] Mitochondrial encephalomyopathy due to COXPD6; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6; COXPD6; severe X-linked mitochondrial encephalomyopathy [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6	mtDNA deletion syndrome with progressive myopathy; .. [+] mtDNA deletion syndrome with progressive myopathy; mtDNA deletion syndrome with limb-girdle weakness; mitochondrial DNA deletion syndrome with progressive myopathy; mitochondrial DNA deletion syndrome with limb-girdle weakness; autosomal dominant progressive external ophthalmoplegia 6; DNA2-related mitochondrial DNA deletion syndrome; PEOA6 [-]	A chronic progressive external ophthalmoplegia cha..[+] A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. [-]
paramyotonia congenita of Von Eulenburg	myotonia congenita intermittens; paralysis periodi.. [+] myotonia congenita intermittens; paralysis periodica paramyotonica; paramyotonia congenita; PMC; Von Eulenburg paramyotonia congenita; Eulenburg disease [-]	A neuromuscular disease characterized by onset in ..[+] A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3. [-]
familial expansile osteolysis	McCabe disease; FEO; hereditary expansile polyosto.. [+] McCabe disease; FEO; hereditary expansile polyostotic osteolytic dysplasia [-]	A bone remodeling disease characterized by increas..[+] A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33. [-]
familial male-limited precocious puberty	male-limited precocious puberty; FMPP; testotoxico.. [+] male-limited precocious puberty; FMPP; testotoxicosis; familial gonadotropin-independent male-limited sexual precocity [-]	An endocrine system disease characterized by onset..[+] An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in the LHCGR gene on chromosome 2p16.3. [-]
steatocystoma multiplex	multiple sebaceous cysts; sebocystomatosis	A sebaceous gland disease characterized by the pre..[+] A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in the KRT17 gene on chromosome 17q21.2. [-]
Sturge-Weber syndrome	meningeal capillary angiomatosis; encephalofacial .. [+] meningeal capillary angiomatosis; encephalofacial angiomatosis; encephalotrigeminal angiomatosis; Sturge-Weber-Dimitri syndrome; Sturge-Weber-Krabbe syndrome; SWS; fourth phacomatosis; leptomeningeal angiomatosis; 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. [-]
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Malouf syndrome; cardiogenital syndrome; cardiomyo.. [+] Malouf syndrome; cardiogenital syndrome; cardiomyopathy eith primary testicular failure; congestive cardiomyopathy with hypergonadotropic hypogonadism; dilated cardiomyopathy with hypergonadotropic hypogonadism; Najjar 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. [-]
distal arthrogryposis type 7	mouth, inability to completely open, and short fin.. [+] mouth, inability to completely open, and short finger-flexor tendons; DA7; Dutch-Kentucky syndrome; Hecht syndrome; Hecht-Beals syndrome; trismus-pseudocamptodactyly syndrome [-]	A distal arthrogryposis characterized by inability..[+] A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1. [-]
ACTH-independent macronodular adrenal hyperplasia	massive macronodular adrenocortical disease; MMAD; .. [+] MMAD; massive macronodular adrenocortical disease; ACTH-independent macronodular adrenocortical hyperplasia; adrenocorticotropic hormone-independent macronodular adrenal hyperplasia; corticotropin-independent macronodular adrenal hyperplasia; Cushing syndrome due to macronodular adrenal hyperplasia; Primary macronodular adrenal hyperplasia; primary macronodular adrenal hyperplasia; AIMAH [-]	A primary hyperaldosteronism characterized by mult..[+] A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol. [-]
Saul-Wilson syndrome	microcephalic osteodysplastic dysplasia, Saul-Wils.. [+] microcephalic osteodysplastic dysplasia, Saul-Wilson type; SWILS [-]	A bone development disease characterized by early ..[+] A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1. [-]

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