TaoMedAI/RareMedData huggingface dataset:
Gene: TRPM1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: TRPM1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: TRPM1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRPM1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRPM1
Phenotype: Myopia (HP:0000545)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: TRPM1
Phenotype: Myopia (HP:0000545)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C (OMIM:613216)
Gene: MME
Phenotype: Areflexia (HP:0001284)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
Gene: MME
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
Gene: MME
Phenotype: Dysarthria (HP:0001260)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization; Fetomaternal alloimmunization with antenatal glomerulopathies; FMAIG; Neonatal glomerulopathy due to neprilysin alloimmunization; Neonatal membranous glomerulopathy with maternal NEP deficiency; Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency; Alloimmune neonatal renal disease (ORPHA:69063)
Gene: MME
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization; Fetomaternal alloimmunization with antenatal glomerulopathies; FMAIG; Neonatal glomerulopathy due to neprilysin alloimmunization; Neonatal membranous glomerulopathy with maternal NEP deficiency; Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency; Alloimmune neonatal renal disease (ORPHA:69063)
Gene: MME
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
Gene: MME
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
Gene: MME
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
Gene: MME
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization; Fetomaternal alloimmunization with antenatal glomerulopathies; FMAIG; Neonatal glomerulopathy due to neprilysin alloimmunization; Neonatal membranous glomerulopathy with maternal NEP deficiency; Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency; Alloimmune neonatal renal disease (ORPHA:69063)
Gene: MME
Phenotype: Palmomental reflex (HP:0030902)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Rigidity (HP:0002063)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Glomerular deposits (HP:0030949)
Associated disease: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization; Fetomaternal alloimmunization with antenatal glomerulopathies; FMAIG; Neonatal glomerulopathy due to neprilysin alloimmunization; Neonatal membranous glomerulopathy with maternal NEP deficiency; Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency; Alloimmune neonatal renal disease (ORPHA:69063)
Gene: MME
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Postural instability (HP:0002172)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
Gene: MME
Phenotype: Late onset (HP:0003584)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
Gene: MME
Phenotype: Unsteady gait (HP:0002317)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
Gene: MME
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
Gene: MME
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
Gene: MME
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
Gene: MME
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Dementia (HP:0000726)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Dementia (HP:0000726)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
Gene: MME
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
Gene: MME
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Pregnancy exposure (HP:0031437)
Associated disease: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization; Fetomaternal alloimmunization with antenatal glomerulopathies; FMAIG; Neonatal glomerulopathy due to neprilysin alloimmunization; Neonatal membranous glomerulopathy with maternal NEP deficiency; Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency; Alloimmune neonatal renal disease (ORPHA:69063)
Gene: MME
Phenotype: Late young adult onset (HP:0025710)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
Gene: MME
Phenotype: Pes cavus (HP:0001761)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MME
Phenotype: Pain (HP:0012531)
Associated disease: SCA43; Spinocerebellar ataxia type 43 (ORPHA:497764)
Gene: MME
Phenotype: Lower limb pain (HP:0012514)
Associated disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Gene: MMP1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Abnormality of vitamin metabolism (HP:0100508)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Decreased circulating vitamin D concentration (HP:0100512)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Esophageal ulceration (HP:0004791)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Decreased plasma total carnitine (HP:0011936)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Oral mucosal blisters (HP:0200097)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Milia (HP:0001056)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Fragile skin (HP:0001030)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Corneal erosion (HP:0200020)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Atrophic scars (HP:0001075)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Decreased serum zinc (HP:0031831)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Abnormal scalp morphology (HP:0001965)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Anemia (HP:0001903)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Renal amyloidosis (HP:0001917)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Generalized abnormality of skin (HP:0011354)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Gastrointestinal inflammation (HP:0004386)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Malnutrition (HP:0004395)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)
Gene: MMP1
Phenotype: Abnormal circulating selenium concentration (HP:0031903)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; RDEB generalisata gravis; Severe generalized RDEB; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; RDEB, Hallopeau-Siemens type; Generalized RDEB, severe form (ORPHA:79408)