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Disease	Synonyms	Description	Articles
familial hemophagocytic lymphohistiocytosis 1	HPLH1; HLH1; FHL1	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22. [-]
familial hemophagocytic lymphohistiocytosis 2	HPLH2; HLH2; FHL2	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1. [-]
familial hemophagocytic lymphohistiocytosis 3	HLH3; HPLH3; FHL3	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1. [-]
familial hemophagocytic lymphohistiocytosis 4	HPLH4; HLH4; FHL4	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2. [-]
familial hemophagocytic lymphohistiocytosis 5	HLH5; HPLH5; FHL5	A hemophagocytic lymphohistiocytosis that has_mate..[+] A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. [-]
Waardenburg syndrome type 2E	hypogonadotropic hypogonadism with anosmia and dea.. [+] hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation; Waardenburg syndrome type 2E with or without neurologic involvement; Waardenburg syndrome type IIE; WS2E; WS2E with or without neurological involvement [-]	A Waardenburg syndrome characterized by pigmentary..[+] A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13. [-]
glycine N-methyltransferase deficiency	hypermethioninemia due to GNMT deficiency; hyperme.. [+] hypermethioninemia due to GNMT deficiency; hypermethioninemia due to glycine N-methyltransferase deficiency; GNMT deficiency [-]	A hypermethioninemia characterized by autosomal re..[+] A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. [-]
platelet-type bleeding disorder 17	hereditary thrombasthenia-thrombocytopenia; BDPLT1.. [+] hereditary thrombasthenia-thrombocytopenia; BDPLT17 [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. [-]
Ambras type hypertrichosis universalis congenita	HTC1; Ambras syndrome	A hypertrichosis characterized by autosomal domina..[+] A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22. [-]
progressive familial heart block	hereditary bundle branch defect; familial Lenegre .. [+] hereditary bundle branch defect; familial Lenegre disease; familial Lev disease; familial Lev-Lenegre disease; familial PCCD; PFHB; familial progressive heart block [-]	A heart conduction disease characterized by autoso..[+] A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death. [-]
pyruvate kinase deficiency of red cells	hemolytic anemia due to red cell pyruvate kinase d.. [+] hemolytic anemia due to red cell pyruvate kinase deficiency; PK deficiency; pyruvate kinase deficiency of erythrocyte [-]	A congenital nonspherocytic hemolytic anemia that ..[+] A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. [-]
maturity-onset diabetes of the young type 5	hypoplastic type glomerulocystic kidney disease; a.. [+] hypoplastic type glomerulocystic kidney disease; atypical familial juvenile hyperuricemic nephropathy; CAKUT with diabetes; congenital anomalies of the kidney and urinary tract with diabetes; familial hypoplastic glomerulocystic kidney; MODY5; renal cysts and diabetes syndrome; atypical FJHN; RCAD [-]	A maturity-onset diabetes of the young characteriz..[+] A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. [-]	2 articles
congenital mirror movement disorder	hereditary congenital mirror movements; hereditary.. [+] hereditary congenital mirror movements; hereditary congenital controlateral synkinesia; familial congenital controlateral synkinesia; familial congenital mirror movements; isolated congenital controlateral synkinesia; isolated congenital mirror movements [-]	A movement disease characterized by involuntary mo..[+] A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. [-]
subcortical band heterotopia	HeCo; heterotopic cortex; band heterotopia; double.. [+] heterotopic cortex; HeCo; band heterotopia; double cortex syndrome; subcortical laminar heterotopia [-]	A congenital nervous system abnormality characteri..[+] A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. [-]
myofibrillar myopathy 9	HIBM-ERF; HMERF; hereditary myopathy with early re.. [+] HMERF; HIBM-ERF; hereditary myopathy with early respiratory failure; Hereditary inclusion body myopathy with early respiratory failure; autosomal dominant distal myopathy with early respiratory failure; Edstrom myopathy; MFM-titinopathy; MFM9; MPRM; myofibrillar myopathy 9 with early respiratory failure; Myofibrillar myopathy-titinopathy; proximal myopathy with early respiratory muscle involvement [-]	A myofibrillar myopathy characterized by adult ons..[+] A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. [-]
autosomal dominant distal hereditary motor neuronopathy 7	Harper-Young myopath; HMN VIIA; HMN7A; dHMN7; DHMN.. [+] HMN7A; HMN VIIA; Harper-Young myopath; dHMN7; DHMNVPy; distal spinal muscular atrophy with vocal cord paralysis; DHMN7A; distal hereditary motor neuronopathy type 7; distal hereditary motor neuropathy type VIIA; distal spinal muscular atrophy with vocal cord paralysis type 7A [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. [-]
autosomal dominant distal hereditary motor neuronopathy 1	HMN I; autosomal dominant distal juvenile spinal m.. [+] HMN I; autosomal dominant distal juvenile spinal muscular atrophy type 1; dHMN1; distal hereditary motor neuropathy type I; spinal Charcot-Marie-Tooth disease 1; 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 14	Harper-Young myopathy; HMN VIIB; HMN7B; DHMN7B; di.. [+] HMN7B; HMN VIIB; Harper-Young myopathy; DHMN7B; distal hereditary motor neuronopathy type 7B; distal hereditary motor neuropathy type VIIB; distal spinal muscular atrophy with vocal cord paralysis type 7B [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. [-]
autosomal dominant distal hereditary motor neuronopathy 5	HMN5; DHMN5; distal hereditary motor neuropathy ty.. [+] HMN5; DHMN5; distal hereditary motor neuropathy type V; distal HMN V; distal spinal muscular atrophy type V; distal spinal muscular atrophy with upper limb predominance; DSMAV; distal hereditary motor neuronopathy type 5; distal hereditary motor neuronopathy type 5A; distal HMN VA; distal spinal muscular atrophy type VA [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. [-]
autosomal dominant distal hereditary motor neuronopathy 2	HMN II; HMN2; HMN IIA; HMN2A; distal hereditary mo.. [+] HMN2A; HMN IIA; HMN2; HMN II; 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; spinal Charcot-Marie-Tooth disease IIA [-]	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. [-]
autosomal dominant distal hereditary motor neuronopathy 3	HMN IIB; HMN2B; distal hereditary motor neuropathy.. [+] HMN2B; HMN IIB; distal hereditary motor neuropathy type IIB; distal hereditary motor neuronopathy type 2B [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23. [-]
autosomal dominant distal hereditary motor neuronopathy 4	HMN IIC; HMN2C; DHMN2C; distal hereditary motor ne.. [+] HMN2C; HMN IIC; DHMN2C; distal hereditary motor neuronopathy type 2C; distal hereditary motor neuropathy type IIC [-]	A distal hereditary motor neuropathy that has_mate..[+] A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2. [-]
autosomal dominant distal hereditary motor neuronopathy 6	HMN IID; HMN2D; distal hereditary motor neuronopat.. [+] HMN2D; HMN IID; distal hereditary motor neuronopathy type 2D; distal hereditary motor neuropathy type IID; distal spinal muscular atrophy with calf predominance [-]	A distal hereditary motor neuropathy that has_mate..[+] A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32. [-]
autosomal dominant distal hereditary motor neuronopathy 9	HMN9; DHMN9; distal hereditary motor neuronopathy .. [+] HMN9; DHMN9; distal hereditary motor neuronopathy type 9; distal hereditary motor neuropathy type IX [-]	An autosomal domiant distal hereditary motor neuro..[+] An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2. [-]
autosomal dominant distal hereditary motor neuronopathy 8	HMN8; autosomal dominant benign distal spinal musc.. [+] HMN8; autosomal dominant benign distal spinal muscular atrophy; autosomal dominant congenital benign spinal muscular atrophy; congenital benign spinal muscular atrophy with contractures; congenital nonprogressive spinal muscular atrophy; DHMN8; distal hereditary motor neuronopathy type 8; distal hereditary motor neuropathy type VIII [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable serverity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. [-]
Sveinsson chorioretinal atrophy	HPCD; helicoid peripapillary chorioretinal degener.. [+] HPCD; helicoid peripapillary chorioretinal degeneration; atrophia areata; SCRA; peripapillary chorioretinal degeneration, Icelandic type [-]	An eye disease characterized by presence in the fu..[+] An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. [-]
McKusick-Kaufman syndrome	hydrometrocolpos syndrome; hydrometrocolpos-postax.. [+] hydrometrocolpos syndrome; hydrometrocolpos-postaxial polydactyly syndrome; hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; HMCS; MKKS; Kaufman McKusick syndrome [-]	A syndrome characterized by neonatal onset of geni..[+] A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. [-]
apolipoprotein C-III deficiency	hyperalphalipoproteinemia 2; HALP2	A cholesterol-ester transfer protein deficiency ch..[+] A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3. [-]
isolated hyperchlorhidrosis	HYCHL; carbonic anhydrase XII deficiency	A skin disease characterized by excessive loss of ..[+] A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2. [-]
autosomal dominant keratitis	hereditary keratitis	A keratitis characterized by corneal opacification..[+] A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. [-]
X-linked hypoparathyroidism	HYPX; agenesis of parathyroid glands	A hypoparathyroidism that has_material_basis_in mu..[+] A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3. [-]
mucopolysaccharidosis Ih	Hurler-Pfaundler syndrome; Hurler disease MPS type.. [+] Hurler-Pfaundler syndrome; Hurler disease MPS type 1H; gargoylism; MPS1-H; Mucopolysaccharidosis type I severe form; L-iduronidase deficiency, Hurler type; dysostosis multiplex; Dysostosis multiplex syndrome [-]	A mucopolysaccharidosis I characterized by a sever..[+] A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. [-]
mucopolysaccharidosis type IIIC	HGSNAT deficiency; Heparan-alpha-glucosaminide N-a.. [+] HGSNAT deficiency; Heparan-alpha-glucosaminide N-acetyltransferase deficiency; Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency; MPS3C; MPSIIIC; Mucopolysaccharidosis type 3C; mucopolysaccharidosis type IIIC (Sanfilippo C); Sanfilippo syndrome type 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 IIIA	heparan sulfamidase deficiency; MPS3A; MPSIIIA; mu.. [+] heparan sulfamidase deficiency; MPS3A; MPSIIIA; mucopolysaccharidosis III-A; mucopolysaccharidosis type IIIA (Sanfilippo A); Sanfilippo syndrome type A; 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 III	hereditary benign erythroreticulosis; anaemia with.. [+] hereditary benign erythroreticulosis; anaemia with multinucleated erythroblasts; anemia with multinucleated erythroblasts; CDA III; CDAN3; Congenital dyserythropoietic anemia type 3; CDA type 3; CDA type III; Congenital dyserythropoietic anaemia type 3; congenital dyserythropoietic anaemia type III [-]	A congenital dyserythropoietic anemia characterize..[+] A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25. [-]
congenital dyserythropoietic anemia type II	Hereditary erythroblastic multinuclearity with a p.. [+] Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas); CDA II; CDA type II; Congenital dyserythropoietic anaemia type 2; congenital dyserythropoietic anaemia type II; SEC23B-CDG; 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. [-]
familial apolipoprotein C-II deficiency	hyperlipoproteinemia, type Ib; hyperlipoproteinemi.. [+] hyperlipoproteinemia, type Ib; hyperlipoproteinemia, type 1b; C-II anapolipoproteinemia; familial APOC2 deficiency; familial apoC-II deficiency [-]	A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32. [-]
familial GPIHBP1 deficiency	hyperlipoproteinemia type ID; hyperlipoproteinemia.. [+] hyperlipoproteinemia type ID; hyperlipoproteinemia type 1D; familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency [-]	A familial chylomicronemia syndrome characterized ..[+] A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3. [-]
essential tremor 1	hereditary essential tremor 1; ETM1	An essential tremor that has_material_basis_in het..[+] An essential tremor that has_material_basis_in heterozygous mutation in the DRD3 gene on chromosome 3q13.31. [-]
essential tremor 2	hereditary essential tremor 2; ETM2	An essential tremor that has_material_basis_in het..[+] An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22. [-]
essential tremor 3	hereditary essential tremor 3; ETM3	An essential tremor that has_material_basis_in var..[+] An essential tremor that has_material_basis_in variation in a region on chromosome 6p23. [-]
essential tremor 4	hereditary essential tremor 4; ETM4	An essential tremor that has_material_basis_in het..[+] An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2. [-]
essential tremor 5	hereditary essential tremor 5; ETM5	An essential tremor that has_material_basis_in het..[+] An essential tremor that has_material_basis_in heterozygous mutation in the TENM4 gene on chromosome 11q14.1. [-]
combined oxidative phosphorylation deficiency 5	hypotonia with lactic acidemia and hyperammonemia; .. [+] hypotonia with lactic acidemia and hyperammonemia; COXPD5 [-]	A combined oxidative phosphorylation deficiency ch..[+] A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. [-]
combined oxidative phosphorylation deficiency 1	hepatoencephalopathy due to COXPD1; hepatoencephal.. [+] hepatoencephalopathy due to COXPD1; hepatoencephalopathy due to combined oxidative phosphorylation defect type 1; COXPD1; early fatal progressive hepatoencephalopathy [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. [-]
palmoplantar keratoderma-esophageal carcinoma syndrome	Howell-Evans syndrome; Bennion-Patterson syndrome; .. [+] Howell-Evans syndrome; Bennion-Patterson syndrome; keratosis palmaris et plantaris with esophageal cancer; keratosis palmoplantaris-esophageal carcinoma syndrome; palmoplantar hyperkeratosis-esophageal carcinoma syndrome; palmoplantar keratoderma with esophageal cancer; TOC; tylosis with esophageal cancer; tylosis-oesophageal carcinoma syndrome [-]	A syndrome characterized by palmoplantar keratoder..[+] A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. [-]
spinal muscular atrophy with progressive myoclonic epilepsy	hereditary myoclonus-progressive distal muscular a.. [+] hereditary myoclonus-progressive distal muscular atrophy syndrome; SMA-PME; SMAPME; Jankovic-Rivera syndrome [-]	A motor neuron disease characterized by severe and..[+] A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. [-]
multicentric carpotarsal osteolysis syndrome	hereditary osteolysis of carpal bones with or with.. [+] hereditary osteolysis of carpal bones with or without nephropathy; autosomal dominant multicentric osteolysis; idiopathic multicentric osteolysis with or without nephropathy; MCTO; multicentric carpo-tarsal osteolysis with or without nephropathy; multicentric osteolysis nephropathy [-]	A syndrome characterized by progressive loss of bo..[+] A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. [-]
prolidase deficiency	hyperimidodipeptiduria; peptidase deficiency; imid.. [+] hyperimidodipeptiduria; peptidase deficiency; imidodipeptidase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. [-]
familial expansile osteolysis	hereditary expansile polyostotic osteolytic dyspla.. [+] hereditary expansile polyostotic osteolytic dysplasia; FEO; McCabe disease [-]	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. [-]

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