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Disease Synonyms Description Articles Phenotypes
autosomal dominant nonsyndromic deafness 69
autosomal dominant deafness 69; DFNA69; unilateral.. [+]
An autosomal dominant nonsyndromic deafness that h..[+]
autosomal dominant nonsyndromic deafness 7
autosomal dominant deafness 7; DFNA7
An autosomal dominant nonsyndromic deafness that i..[+]
autosomal dominant nonsyndromic deafness 70
autosomal dominant deafness 70; DFNA70
An autosomal dominant nonsyndromic deafness that h..[+]
autosomal dominant nonsyndromic deafness 9
autosomal dominant deafness 9; DFNA9
An autosomal dominant nonsyndromic deafness that i..[+]
autosomal recessive polycystic kidney disease
Arpkd; Pkhd1; Polycystic Kidney Disease, Infantile.. [+]
A polycystic kidney disease characterized by the p..[+]
adult hypophosphatasia
mild hypophosphatasia
A hypophosphatasia that has_material_basis_in a he..[+]
autosomal dominant osteopetrosis 1
autosomal dominant osteopetrosis type 1; OPTA1
An osteopetrosis characterized by autosomal domina..[+]
autosomal dominant osteopetrosis 2
autosomal dominant Albers-Schonberg disease; autos.. [+]
An osteopetrosis characterized by autosomal domina..[+]
autosomal recessive osteopetrosis 5
OPTB5; infantile malignant osteopetrosis 3
An osteopetrosis characterized by autosomal recess..[+]
autosomal recessive osteopetrosis 8
OPTB8
An osteopetrosis characterized by autosomal recess..[+]
autosomal recessive osteopetrosis 3
autosomal recessive osteopetrosis 3 with renal tub.. [+]
An osteopetrosis characterized by autosomal recess..[+]
autosomal recessive osteopetrosis 1
autosomal recessive Albers-Schonberg disease; OPTB.. [+]
An osteopetrosis characterized by autosomal recess..[+]
autosomal recessive osteopetrosis 2
mild autosomal recessive form osteopetrosis; OPTB2.. [+]
An osteopetrosis characterized by autosomal recess..[+]
autosomal recessive osteopetrosis 4
infantile malignant osteopetrosis 2; OPTB4
An osteopetrosis characterized by autosomal recess..[+]
autosomal recessive osteopetrosis 6
autosomal recessive osteopetrosis intermediate for.. [+]
An osteopetrosis characterized by autosomal recess..[+]
autosomal recessive osteopetrosis 7
autosomal recessive osteoclast-poor osteopetrosis .. [+]
An osteopetrosis characterized by autosomal recess..[+]
atypical Gaucher's disease due to saposin c deficiency
A Gaucher's disease that has_material_basis_in com..[+]
African iron overload
Bantu siderosis; iron overload in Africa
A hemochromatosis characterized by a predispositio..[+]
Ambras type hypertrichosis universalis congenita
Ambras syndrome; HTC1
A hypertrichosis characterized by autosomal domina..[+]
autosomal recessive distal hereditary motor neuronopathy 1
autosomal recessive distal spinal muscular atrophy.. [+]
A spinal muscular atrophy characterized by autosom..[+]
autosomal recessive distal hereditary motor neuronopathy 2
autosomal recessive distal spinal muscular atrophy.. [+]
A spinal muscular atrophy characterized by autosom..[+]
acquired von Willebrand syndrome
AVWS
A blood coagulation disease characterized by devel..[+]
angioimmunoblastic T-cell lymphoma
A peripheral T-cell lymphoma characterized by auto..[+]
autosomal recessive isolated ectopia lentis 2
ECTOL2
An isolated ectopia lentis that has_material_basis..[+]
autosomal dominant isolated ectopia lentis 1
ECTOL1
An isolated ectopia lentis that has_material_basis..[+]
autosomal recessive spinocerebellar ataxia 21
autosomal recessive spinocerebellar ataxia 21 with.. [+]
An autosomal recessive cerebellar ataxia that has_..[+]
autosomal dominant sensory ataxia 1
ADSA; SNAX1
A hereditary ataxia characterized by gait difficul..[+]
autosomal dominant adult-onset proximal spinal muscular atrophy
autosomal dominant late-onset spinal muscular atro.. [+]
A spinal muscular atrophy characterized by adult-o..[+]
autosomal recessive distal hereditary motor neuronopathy
autosomal recessive distal spinal muscular atrophy.. [+]
A spinal muscular atrophy that has_material_basis_..[+]
autosomal dominant distal hereditary motor neuronopathy
autosomal dominant distal spinal muscular atrophy; .. [+]
A spinal muscular atrophy that is characterized by..[+]
autosomal dominant distal hereditary motor neuronopathy 7
dHMN7; DHMNVPy; distal spinal muscular atrophy wit.. [+]
An autosomal dominant distal hereditary motor neur..[+]
autosomal dominant distal hereditary motor neuronopathy 1
autosomal dominant distal juvenile spinal muscular.. [+]
An autosomal dominant distal hereditary motor neur..[+]
autosomal dominant distal hereditary motor neuronopathy 14
DHMN7B; distal hereditary motor neuronopathy type .. [+]
An autosomal dominant distal hereditary motor neur..[+]
autosomal dominant distal hereditary motor neuronopathy 5
DHMN5; distal hereditary motor neuropathy type V; .. [+]
An autosomal dominant distal hereditary motor neur..[+]
autosomal dominant distal hereditary motor neuronopathy 12
distal hereditary motor neuronopathy type 5B; dist.. [+]
An autosomal dominant distal hereditary motor neur..[+]
autosomal dominant distal hereditary motor neuronopathy 2
autosomal dominant adult spinal muscular atrophy I.. [+]
An autosomal dominant distal hereditary motor neur..[+]
autosomal dominant distal hereditary motor neuronopathy 3
distal hereditary motor neuropathy type IIB; HMN I.. [+]
An autosomal dominant distal hereditary motor neur..[+]
autosomal dominant distal hereditary motor neuronopathy 4
DHMN2C; distal hereditary motor neuronopathy type .. [+]
A distal hereditary motor neuropathy that has_mate..[+]
autosomal dominant distal hereditary motor neuronopathy 6
distal hereditary motor neuronopathy type 2D; dist.. [+]
A distal hereditary motor neuropathy that has_mate..[+]
autosomal recessive distal hereditary motor neuronopathy 3
autosomal recessive distal spinal muscular atrophy.. [+]
An autosomal recessive distal hereditary motor neu..[+]
autosomal dominant distal hereditary motor neuronopathy 9
DHMN9; distal hereditary motor neuronopathy type 9.. [+]
An autosomal domiant distal hereditary motor neuro..[+]
autosomal recessive distal hereditary motor neuronopathy 4
autosomal recessive lower motor neuron disease wit.. [+]
An autosomal recessive distal hereditary motor neu..[+]
autosomal recessive distal hereditary motor neuronopathy 5
autosomal recessive distal spinal muscular atrophy.. [+]
An autosomal recessive distal hereditary motor neu..[+]
autosomal dominant distal hereditary motor neuronopathy 8
autosomal dominant congenital benign spinal muscul.. [+]
An autosomal dominant distal hereditary motor neur..[+]
autosomal recessive centronuclear myopathy
AR-CNM
A centronuclear myopathy that has_material_basis_i..[+]
autosomal dominant centronuclear myopathy
AD-CNM
A centronuclear myopathy that has_material_basis_i..[+]
acromicric dysplasia
ACMICD; acromicric skeletal dysplasia
An osteochondrodysplasia characterized by autosoma..[+]
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
ALS-PDC; amyotrophic lateral sclerosis-parkinsonis.. [+]
A neurodegenerative disease characterized by chron..[+]
autosomal recessive hyaline body myopathy
congenital myopathy 7B; MSMB; Myopathy, myosin sto.. [+]
A hyaline body myopathy that has_material_basis_in..[+]
autosomal dominant hyaline body myopathy
congenital myopathy 7A; MSMA; myopathy with lysis .. [+]
A hyaline body myopathy that has_material_basis_in..[+]

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