TaoMedAI/RareMedData huggingface dataset:
Gene: PINK1
Phenotype: Nausea (HP:0002018)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Constipation (HP:0002019)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)
Gene: PINK1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Rigidity (HP:0002063)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)
Gene: PINK1
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Postural instability (HP:0002172)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)
Gene: PINK1
Phenotype: Infantile onset (HP:0003593)
Associated disease: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)
Gene: PINK1
Phenotype: Impulsivity (HP:0100710)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Insomnia (HP:0100785)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)
Gene: PINK1
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)
Gene: PINK1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Diplopia (HP:0000651)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Hallucinations (HP:0000738)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Anxiety (HP:0000739)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Anxiety (HP:0000739)
Associated disease: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)
Gene: PINK1
Phenotype: Short attention span (HP:0000736)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Apathy (HP:0000741)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Depression (HP:0000716)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)
Gene: PINK1
Phenotype: Agitation (HP:0000713)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Dementia (HP:0000726)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Dementia (HP:0000726)
Associated disease: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)
Gene: PINK1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Hyposmia (HP:0004409)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Female sexual dysfunction (HP:0030014)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Restless legs (HP:0012452)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: PINK1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: REEP1
Phenotype: Bulbar signs (HP:0002483)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: REEP1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Fiber type grouping (HP:0033685)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: REEP1
Phenotype: Wrist drop (HP:0031189)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB (OMIM:614751)
Gene: REEP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Craniofacial dystonia (HP:0012179)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Decreased patellar reflex (HP:0011808)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB (OMIM:614751)
Gene: REEP1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Spastic gait (HP:0002064)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: First dorsal interossei muscle weakness (HP:0003392)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: REEP1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: REEP1
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB (OMIM:614751)
Gene: REEP1
Phenotype: Plantar flexion contracture (HP:0008112)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Peroneal muscle weakness (HP:0011727)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB (OMIM:614751)
Gene: REEP1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: REEP1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB (OMIM:614751)
Gene: REEP1
Phenotype: First dorsal interossei muscle atrophy (HP:0003426)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: REEP1
Phenotype: Thenar muscle weakness (HP:0003427)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: REEP1
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB (OMIM:614751)
Gene: REEP1
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Cold-induced hand cramps (HP:0003435)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: REEP1
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Recurrent acute respiratory tract infection (HP:0011948)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: REEP1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Frequent falls (HP:0002359)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: REEP1
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB (OMIM:614751)
Gene: REEP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: REEP1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: REEP1
Phenotype: Difficulty running (HP:0009046)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Peroneal muscle atrophy (HP:0009049)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB (OMIM:614751)
Gene: REEP1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Arthrogryposis-like hand anomaly (HP:0005612)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Abnormal motor nerve conduction velocity (HP:0040131)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: REEP1
Phenotype: Pes valgus (HP:0008081)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: REEP1
Phenotype: High palate (HP:0000218)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Paradoxical respiration (HP:0030207)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Diaphragmatic paralysis (HP:0006597)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Hammertoe (HP:0001765)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: REEP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Gene: REEP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Gene: REEP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Gene: REEP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB (OMIM:614751)
Gene: REEP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Distal hereditary motor neuropathy type V; dHMN5; Distal HMN V; Distal spinal muscular atrophy type 5; Distal hereditary motor neuropathy type 5 (ORPHA:139536)
Gene: REEP1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB (OMIM:614751)
Gene: ACD
Phenotype: Nevus (HP:0003764)
Associated disease: Familial melanoma (ORPHA:618)
Gene: ACD
Phenotype: Hypertonia (HP:0001276)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Ataxia (HP:0001251)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
Gene: ACD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Neoplasm (HP:0002664)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
Gene: ACD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
Gene: ACD
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
Gene: ACD
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
Gene: ACD
Phenotype: Freckling (HP:0001480)
Associated disease: Familial melanoma (ORPHA:618)
Gene: ACD
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
Gene: ACD
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Familial melanoma (ORPHA:618)
Gene: ACD
Phenotype: Esophageal stenosis (HP:0010450)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
Gene: ACD
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Adult onset (HP:0003581)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
Gene: ACD
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Familial melanoma (ORPHA:618)