TaoMedAI/RareMedData huggingface dataset:
Gene: DAG1
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
Gene: DAG1
Phenotype: Gowers sign (HP:0003391)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
Gene: DAG1
Phenotype: Gowers sign (HP:0003391)
Associated disease: LGMD type 2P; Limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related LGMD R16; Autosomal recessive limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related limb-girdle muscular dystrophy R16; LGMD2P (ORPHA:280333)
Gene: DAG1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Metatarsus valgus (HP:0010508)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
Gene: DAG1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: LGMD type 2P; Limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related LGMD R16; Autosomal recessive limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related limb-girdle muscular dystrophy R16; LGMD2P (ORPHA:280333)
Gene: DAG1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
Gene: DAG1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Elevated creatine kinase after exercise (HP:0008331)
Associated disease: Isolated asymptomatic hyperCKemia; Idiopathic asymptomatic hyperCKemia; Isolated asymptomatic elevation of creatine phosphokinase (ORPHA:206599)
Gene: DAG1
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: LGMD type 2P; Limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related LGMD R16; Autosomal recessive limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related limb-girdle muscular dystrophy R16; LGMD2P (ORPHA:280333)
Gene: DAG1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
Gene: DAG1
Phenotype: Abnormal cerebellar vermis morphology (HP:0002334)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Agyria (HP:0031882)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Agyria (HP:0031882)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
Gene: DAG1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
Gene: DAG1
Phenotype: Myopathy (HP:0003198)
Associated disease: Isolated asymptomatic hyperCKemia; Idiopathic asymptomatic hyperCKemia; Isolated asymptomatic elevation of creatine phosphokinase (ORPHA:206599)
Gene: DAG1
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: LGMD type 2P; Limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related LGMD R16; Autosomal recessive limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related limb-girdle muscular dystrophy R16; LGMD2P (ORPHA:280333)
Gene: DAG1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Isolated asymptomatic hyperCKemia; Idiopathic asymptomatic hyperCKemia; Isolated asymptomatic elevation of creatine phosphokinase (ORPHA:206599)
Gene: DAG1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
Gene: DAG1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Abnormal circulating lactate dehydrogenase concentration (HP:0045040)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
Gene: DAG1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: LGMD type 2P; Limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related LGMD R16; Autosomal recessive limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related limb-girdle muscular dystrophy R16; LGMD2P (ORPHA:280333)
Gene: DAG1
Phenotype: Chorioretinal dysplasia (HP:0007731)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Reduced muscle fiber alpha dystroglycan (HP:0030099)
Associated disease: LGMD type 2P; Limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related LGMD R16; Autosomal recessive limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related limb-girdle muscular dystrophy R16; LGMD2P (ORPHA:280333)
Gene: DAG1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
Gene: DAG1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: LGMD type 2P; Limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related LGMD R16; Autosomal recessive limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related limb-girdle muscular dystrophy R16; LGMD2P (ORPHA:280333)
Gene: DAG1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
Gene: DAG1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: High myopia (HP:0011003)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: High myopia (HP:0011003)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Low-set ears (HP:0000369)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: EEG with focal spike waves (HP:0011197)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Microcornea (HP:0000482)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Abnormal circulating aldolase concentration (HP:0012400)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Protruding ear (HP:0000411)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: LGMD type 2P; Limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related LGMD R16; Autosomal recessive limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related limb-girdle muscular dystrophy R16; LGMD2P (ORPHA:280333)
Gene: DAG1
Phenotype: Cataract (HP:0000518)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Cataract (HP:0000518)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Cataract (HP:0000518)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Glaucoma (HP:0000501)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Glaucoma (HP:0000501)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Buphthalmos (HP:0000557)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Buphthalmos (HP:0000557)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAO
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DAO
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: DARS1
Phenotype: Motor delay (HP:0001270)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
Gene: DARS1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)