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Disease	Synonyms	Description
dilated cardiomyopathy with woolly hair and keratoderma	DCWHK; Carvajal syndrome; palmoplantar keratoderma.. [+] DCWHK; Carvajal syndrome; palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair [-]	An autosomal recessive disease characterized by au..[+] An autosomal recessive disease characterized by autosomal recessive inheritance of dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the DSP gene on chromosome 6p24. [-]
Donnai-Barrow syndrome	diaphragmatic hernia-hypertelorism-myopia-deafness.. [+] diaphragmatic hernia-hypertelorism-myopia-deafness syndrome; diaphragmatic hernia-exomphalos-hypertelorism syndrome; diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria; DBS/FOAR syndrome; facio-oculo-acoustico-renal syndrome; faciooculoacousticorenal syndrome; FOAR syndrome; Holmes-Schepens syndrome; syndrome of ocular and facial anomalies, telecanthus and deafness [-]	An autosomal recessive disease characterized by fa..[+] An autosomal recessive disease characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LRP2 gene on chromosome 2q31. [-]
dopamine beta-hydroxylase deficiency	congenital dopamine beta-hydroxylase deficiency; n.. [+] congenital dopamine beta-hydroxylase deficiency; noradrenaline deficiency; norepinephrine deficiency [-]	An inherited metabolic disorder characterized by d..[+] An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in homozygous or compound heterozygous mutation in the DBH gene on chromosome 9q34. [-]
dominant pericentral pigmentary retinopathy		A retinitis pigmentosa that is characterized pigme..[+] A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life. [-]
dilated cardiomyopathy 1C	dilated cardiomyopathy 1C with or without left ven.. [+] dilated cardiomyopathy 1C with or without left ventricular noncompaction; CMDC1 [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2. [-]
dilated cardiomyopathy 1CC	CMD1CC	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1. [-]
dilated cardiomyopathy 1A	dilated cardiomyopathy with conduction defect 1; C.. [+] dilated cardiomyopathy with conduction defect 1; CDCD1; CMD1A; familial dilated cardiomyopathy with conduction defect due to LMNA mutation [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. [-]
dilated cardiomyopathy 1D	CMD1D	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32. [-]
dilated cardiomyopathy 1V	CMD1V	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42. [-]
dilated cardiomyopathy 1AA	dilated cardiomyopathy 1AA with or without left ve.. [+] dilated cardiomyopathy 1AA with or without left ventricular noncompaction; CMD1AA [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43. [-]
dilated cardiomyopathy 1H	dilated cardiomyopathy with conduction defect; CMD.. [+] dilated cardiomyopathy with conduction defect; CMD1H [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22. [-]
dilated cardiomyopathy 1G	CMD1G	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31. [-]
dilated cardiomyopathy 1I	CMD1I	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35. [-]
dilated cardiomyopathy 1NN	CMD1NN	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25. [-]
dilated cardiomyopathy 1E	dilated cardiomyopathy with conduction disorder an.. [+] dilated cardiomyopathy with conduction disorder and arrhythmia; dilated cardiomyopathy with conduction defect 2; CDCD2; CMD1E [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2. [-]
dilated cardiomyopathy 1Z	CMD1Z	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p. [-]
dilated cardiomyopathy 1GG	CMD1GG	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33. [-]
dilated cardiomyopathy 1L	CMD1L	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3. [-]
dilated cardiomyopathy 1K	CMD1K	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16. [-]
dilated cardiomyopathy 1JJ	CMD1JJ	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21. [-]
dilated cardiomyopathy 1P	CMD1P	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22. [-]
dilated cardiomyopathy 1J	autosomal dominant dilated cardiomyopathy with sen.. [+] autosomal dominant dilated cardiomyopathy with sensorineural hearing loss; CMD1J; neurosensory deafness with dilated cardiomyopathy; neurosensory hearing loss with dilated cardiomyopathy; sensorineural deafness with dilated cardiomyopathy; sensorineural hearing loss with dilated cardiomyopathy [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2. [-]
dilated cardiomyopathy 2B	CMD2B	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21. [-]
dilated cardiomyopathy 1Q	CMD1Q	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1. [-]
dilated cardiomyopathy 1B	CMD1B	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13. [-]
dilated cardiomyopathy 1X	dilated cardiomyopathy with mild or no proximal mu.. [+] dilated cardiomyopathy with mild or no proximal muscle weakness; CMD1X [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31. [-]
dilated cardiomyopathy 1KK	CMD1KK	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21. [-]
dilated cardiomyopathy 1W	CMD1W	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2. [-]
dilated cardiomyopathy 1DD	CMD1DD	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25. [-]
dilated cardiomyopathy 1HH	CMD1HH	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11. [-]
dilated cardiomyopathy 1M	CMD1M	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15. [-]
dilated cardiomyopathy 1II	CMD1II	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23. [-]
dilated cardiomyopathy 1O	dilated cardiomyopathy with ventricular tachycardi.. [+] dilated cardiomyopathy with ventricular tachycardia; CMD1O [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1. [-]
dilated cardiomyopathy 1T	CMD1T	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22. [-]
dilated cardiomyopathy 1EE	CMD1EE	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2. [-]
dilated cardiomyopathy 1S	CMD1S	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12. [-]
dilated cardiomyopathy 1U	CMD1U	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3. [-]
dilated cardiomyopathy 1R	CMD1R	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14. [-]
dilated cardiomyopathy 1Y	CMD1Y	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1. [-]
dilated cardiomyopathy 1BB	CMD1BB	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1. [-]
dilated cardiomyopathy 1FF	CMD1FF	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42. [-]
dilated cardiomyopathy 2A	CMD2A	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13. [-]
distal spinal muscular atrophy 1	distal-HMN type 6; DSMA1; distal hereditary motor .. [+] DSMA1; distal-HMN type 6; distal hereditary motor neuropathy type 6; diaphragmatic spinal muscular atrophy; dHMN6; autosomal recessive spinal muscular atrophy with respiratory distress; severe infantile axonal neuropathy with respiratory failure type 1; SIANRF; SMARD1; spinal muscular atrophy with respiratory distress type 1; autosomal recessive 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. [-]
delayed sleep phase syndrome	DSPD	A sleep disorder characterized by an extreme eveni..[+] A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time. [-]
Dyggve-Melchior-Clausen disease	DMC disease; pseudo-Morquio disease type I	A spondyloepimetaphyseal dysplasia characterized b..[+] A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. [-]
distal muscular dystrophy with anterior tibial onset	DMAT	A distal muscular dystrophy characterized by onset..[+] A distal muscular dystrophy characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous or compound heterozygous mutation in DYSF on 2p13. [-]
distal muscular dystrophy 3	distal myopathy type 3; distal myopathy 3; MPD3	A distal muscular dystrophy that has significant l..[+] A distal muscular dystrophy that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22. [-]
distal muscular dystrophy 4	distal myopathy with posterior leg and anterior ha.. [+] distal myopathy with posterior leg and anterior hand involvement; distal myopathy 4; distal ABD-filaminopathy; MPD4 [-]	A distal muscular dystrophy that has_material_basi..[+] A distal muscular dystrophy that has_material_basis_in heterozygous mutation in FLNC on 7q32. [-]
distal hereditary motor neuronopathy type 7A	distal spinal muscular atrophy with vocal cord par.. [+] distal spinal muscular atrophy with vocal cord paralysis type 7A; distal hereditary motor neuropathy type VIIA; DHMN7A; Harper-Young myopath; HMN VIIA; HMN7A [-]	A distal hereditary motor neuropathy type 7 charac..[+] A distal hereditary motor neuropathy type 7 characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis that has_material_basis_in heterozygous mutation in SLC5A7 on 2q12.3. [-]
distal hereditary motor neuronopathy type 5	DSMAV; distal spinal muscular atrophy with upper l.. [+] DSMAV; distal spinal muscular atrophy with upper limb predominance; distal spinal muscular atrophy type V; distal HMN V; distal hereditary motor neuropathy type V; DHMN5; HMN5 [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy characterized by muscle weakness and wasting, predominantly confined to the hands, and often exclusively involve thenar and/or interosseus dorsalis I eminences. [-]

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