TaoMedAI/RareMedData huggingface dataset:
Gene: BSCL2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Spastic paraplegia-amyotrophy of hands and feet; Silver syndrome; SPG17; Autosomal dominant spastic paraplegia type 17 (ORPHA:100998)
Gene: BSCL2
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: BSCL2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Dystonia (HP:0001332)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Tremor (HP:0001337)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Tremor (HP:0001337)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC (OMIM:619112)
Gene: BSCL2
Phenotype: Myoclonus (HP:0001336)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Decreased fertility (HP:0000144)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC (OMIM:619112)
Gene: BSCL2
Phenotype: Abnormality of the foot musculature (HP:0001436)
Associated disease: Spastic paraplegia-amyotrophy of hands and feet; Silver syndrome; SPG17; Autosomal dominant spastic paraplegia type 17 (ORPHA:100998)
Gene: BSCL2
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
Phenotype: Spastic gait (HP:0002064)
Associated disease: Spastic paraplegia-amyotrophy of hands and feet; Silver syndrome; SPG17; Autosomal dominant spastic paraplegia type 17 (ORPHA:100998)
Gene: BSCL2
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: BSCL2
Phenotype: First dorsal interossei muscle weakness (HP:0003392)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC (OMIM:619112)
Gene: BSCL2
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: BSCL2
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC (OMIM:619112)
Gene: BSCL2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Spastic paraplegia-amyotrophy of hands and feet; Silver syndrome; SPG17; Autosomal dominant spastic paraplegia type 17 (ORPHA:100998)
Gene: BSCL2
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: BSCL2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
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: BSCL2
Phenotype: First dorsal interossei muscle atrophy (HP:0003426)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
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: BSCL2
Phenotype: Thenar muscle weakness (HP:0003427)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
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: BSCL2
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
Phenotype: Postural tremor (HP:0002174)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
Phenotype: Postural tremor (HP:0002174)
Associated disease: Spastic paraplegia-amyotrophy of hands and feet; Silver syndrome; SPG17; Autosomal dominant spastic paraplegia type 17 (ORPHA:100998)
Gene: BSCL2
Phenotype: Poor motor coordination (HP:0002275)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Tetraparesis (HP:0002273)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Tetraparesis (HP:0002273)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Congenital onset (HP:0003577)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Adult onset (HP:0003581)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC (OMIM:619112)
Gene: BSCL2
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Decreased compound muscle action potential amplitude (HP:0033383)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC (OMIM:619112)
Gene: BSCL2
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: BSCL2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Spastic paraplegia-amyotrophy of hands and feet; Silver syndrome; SPG17; Autosomal dominant spastic paraplegia type 17 (ORPHA:100998)
Gene: BSCL2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Frequent falls (HP:0002359)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC (OMIM:619112)
Gene: BSCL2
Phenotype: Developmental regression (HP:0002376)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Loss of speech (HP:0002371)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Progressive (HP:0003676)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Caudate atrophy (HP:0002340)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Hirsutism (HP:0001007)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
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: BSCL2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC (OMIM:619112)
Gene: BSCL2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
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: BSCL2
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
Phenotype: Generalized lipodystrophy (HP:0009064)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
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: BSCL2
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC (OMIM:619112)
Gene: BSCL2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Spastic paraplegia-amyotrophy of hands and feet; Silver syndrome; SPG17; Autosomal dominant spastic paraplegia type 17 (ORPHA:100998)
Gene: BSCL2
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
Gene: BSCL2
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: Spastic paraplegia-amyotrophy of hands and feet; Silver syndrome; SPG17; Autosomal dominant spastic paraplegia type 17 (ORPHA:100998)
Gene: BSCL2
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Myopathy (HP:0003198)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Insulin-resistant diabetes mellitus at puberty (HP:0000877)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Decreased fertility in females (HP:0000868)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Hypertension (HP:0000822)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Decreased serum leptin (HP:0003292)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Knee pain (HP:0030839)
Associated disease: Spastic paraplegia-amyotrophy of hands and feet; Silver syndrome; SPG17; Autosomal dominant spastic paraplegia type 17 (ORPHA:100998)
Gene: BSCL2
Phenotype: Hip pain (HP:0030838)
Associated disease: Spastic paraplegia-amyotrophy of hands and feet; Silver syndrome; SPG17; Autosomal dominant spastic paraplegia type 17 (ORPHA:100998)
Gene: BSCL2
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
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: BSCL2
Phenotype: Abnormal motor nerve conduction velocity (HP:0040131)
Associated disease: Spastic paraplegia-amyotrophy of hands and feet; Silver syndrome; SPG17; Autosomal dominant spastic paraplegia type 17 (ORPHA:100998)
Gene: BSCL2
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: BSCL2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Ventricular septal hypertrophy (HP:0005144)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Severe neurodegenerative syndrome with lipodystrophy; Severe neurodegenerative syndrome due to BSCL2 deficiency (ORPHA:363400)
Gene: BSCL2
Phenotype: Prominent umbilicus (HP:0001544)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Ankle weakness (HP:0031374)
Associated disease: Spastic paraplegia-amyotrophy of hands and feet; Silver syndrome; SPG17; Autosomal dominant spastic paraplegia type 17 (ORPHA:100998)
Gene: BSCL2
Phenotype: Cystic angiomatosis of bone (HP:0002833)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Spastic paraplegia-amyotrophy of hands and feet; Silver syndrome; SPG17; Autosomal dominant spastic paraplegia type 17 (ORPHA:100998)
Gene: BSCL2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Triangular face (HP:0000325)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Acute pancreatitis (HP:0001735)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Macrotia (HP:0000400)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: Spastic paraplegia-amyotrophy of hands and feet; Silver syndrome; SPG17; Autosomal dominant spastic paraplegia type 17 (ORPHA:100998)
Gene: BSCL2
Phenotype: Pes planus (HP:0001763)
Associated disease: Spastic paraplegia-amyotrophy of hands and feet; Silver syndrome; SPG17; Autosomal dominant spastic paraplegia type 17 (ORPHA:100998)
Gene: BSCL2
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: BSCL2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: BSCL2
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC (OMIM:619112)
Gene: BSCL2
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT (OMIM:270685)
Gene: BSCL2
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: BSCL2
Phenotype: Long foot (HP:0001833)
Associated disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 (OMIM:269700)
Gene: GREM1
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: GREM1
Phenotype: Intussusception (HP:0002576)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: GREM1
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: GREM1
Phenotype: Hematochezia (HP:0002573)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: GREM1
Phenotype: Rectal polyposis (HP:0100896)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: GREM1
Phenotype: Neoplasm of the gastrointestinal tract (HP:0007378)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: GREM1
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: GREM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: GREM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: GREM1
Phenotype: Juvenile colonic polyposis (HP:0012198)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: GREM1
Phenotype: Hyperplastic colonic polyposis (HP:0012183)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: GREM1
Phenotype: Prostate cancer (HP:0012125)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: GREM1
Phenotype: Endometrial carcinoma (HP:0012114)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: GREM1
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: GREM1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: GREM1
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: GREM1
Phenotype: Adenocarcinoma of the colon (HP:0040276)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: GREM1
Phenotype: Neoplasm of the rectum (HP:0100743)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)
Gene: GREM1
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: HMPS; Hereditary mixed polyposis syndrome (ORPHA:157794)