TaoMedAI/RareMedData huggingface dataset:
Gene: COL7A1
Phenotype: Urethral stricture (HP:0012227)
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: COL7A1
Phenotype: Urethral stricture (HP:0012227)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Recurrent skin infections (HP:0001581)
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: COL7A1
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Pretibial blistering (HP:0012221)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Pretibial blistering (HP:0012221)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL (OMIM:131850)
Gene: COL7A1
Phenotype: Pretibial blistering (HP:0012221)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Squamous cell carcinoma (HP:0002860)
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: COL7A1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Chronic cutaneous wound (HP:0032676)
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: COL7A1
Phenotype: Chronic cutaneous wound (HP:0032676)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
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: COL7A1
Phenotype: Growth delay (HP:0001510)
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: COL7A1
Phenotype: Growth delay (HP:0001510)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Growth delay (HP:0001510)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Growth delay (HP:0001510)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Growth delay (HP:0001510)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Growth delay (HP:0001510)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Anal fissure (HP:0012390)
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: COL7A1
Phenotype: Anal fissure (HP:0012390)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Spontaneous esophageal perforation (HP:0005203)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Erosion of oral mucosa (HP:0031446)
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: COL7A1
Phenotype: Erosion of oral mucosa (HP:0031446)
Associated disease: Generalized DDEB; Autosomal dominant generalized dystrophic epidermolysis bullosa (ORPHA:231568)
Gene: COL7A1
Phenotype: Genital blistering (HP:0031464)
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: COL7A1
Phenotype: Genital blistering (HP:0031464)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Genital blistering (HP:0031464)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Genital blistering (HP:0031464)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Abnormal forearm morphology (HP:0002973)
Associated disease: Dystrophic epidermolysis bullosa pruriginosa; Pruriginous dystrophic epidermolysis bullosa; DEB pruriginosa; DEB-Pr (ORPHA:89843)
Gene: COL7A1
Phenotype: Dilated cardiomyopathy (HP:0001644)
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: COL7A1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Mitten deformity (HP:0004057)
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: COL7A1
Phenotype: Mitten deformity (HP:0004057)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Mitten deformity (HP:0004057)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Mitten deformity (HP:0004057)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Mitten deformity (HP:0004057)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Mitten deformity (HP:0004057)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Abnormality of the eye (HP:0000478)
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: COL7A1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Small nail (HP:0001792)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: Localized DEB, nails only; Localized dystrophic epidermolysis bullosa, nails only (ORPHA:158676)
Gene: COL7A1
Phenotype: Anonychia (HP:0001798)
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: COL7A1
Phenotype: Anonychia (HP:0001798)
Associated disease: RDEB-I; Recessive dystrophic epidermolysis bullosa inversa; RDEB inversa (ORPHA:79409)
Gene: COL7A1
Phenotype: Anonychia (HP:0001798)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Anonychia (HP:0001798)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Anonychia (HP:0001798)
Associated disease: Transient bullous dermolysis of the newborn; Self-improving dystrophic epidermolysis bullosa; Self-improving DEB (ORPHA:79411)
Gene: COL7A1
Phenotype: Cataract (HP:0000518)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Fragile nails (HP:0001808)
Associated disease: Localized DEB, nails only; Localized dystrophic epidermolysis bullosa, nails only (ORPHA:158676)
Gene: COL7A1
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: Localized DEB, nails only; Localized dystrophic epidermolysis bullosa, nails only (ORPHA:158676)
Gene: COL7A1
Phenotype: Absent toenail (HP:0001802)
Associated disease: Generalized DDEB; Autosomal dominant generalized dystrophic epidermolysis bullosa (ORPHA:231568)
Gene: COL7A1
Phenotype: Absent toenail (HP:0001802)
Associated disease: Localized DEB, nails only; Localized dystrophic epidermolysis bullosa, nails only (ORPHA:158676)
Gene: COL7A1
Phenotype: Absent toenail (HP:0001802)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Absent fingernail (HP:0001817)
Associated disease: Generalized DDEB; Autosomal dominant generalized dystrophic epidermolysis bullosa (ORPHA:231568)
Gene: COL7A1
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8 (OMIM:607523)
Gene: COL7A1
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: Generalized DDEB; Autosomal dominant generalized dystrophic epidermolysis bullosa (ORPHA:231568)
Gene: COL7A1
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: Localized DEB, nails only; Localized dystrophic epidermolysis bullosa, nails only (ORPHA:158676)
Gene: COL7A1
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: Localized DEB, acral form; Localized dystrophic epidermolysis bullosa, acral form (ORPHA:158673)
Gene: COL7A1
Phenotype: Erythematous papule (HP:0030350)
Associated disease: Localized DEB, pretibial form; DEB-Pt; Localized dystrophic epidermolysis bullosa, pretibial form (ORPHA:79410)
Gene: COL7A1
Phenotype: Iron deficiency anemia (HP:0001891)
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: COL7A1
Phenotype: Corneal scarring (HP:0000559)
Associated disease: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (OMIM:226600)
Gene: COL7A1
Phenotype: Visual loss (HP:0000572)
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: COL7A1
Phenotype: Visual loss (HP:0000572)
Associated disease: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis; Generalized RDEB, intermediate form; Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form; RDEB, non-Hallopeau-Siemens type; Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type (ORPHA:89842)
Gene: COL7A1
Phenotype: Chronic pain (HP:0012532)
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: COL8A2
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 (OMIM:609140)
Gene: COL8A2
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 (OMIM:136800)
Gene: COL8A2
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Uveal ectropion (HP:0025358)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Corneal guttata (HP:0012038)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 (OMIM:136800)
Gene: COL8A2
Phenotype: Descemet Membrane Folds (HP:0012039)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 (OMIM:136800)
Gene: COL8A2
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 (OMIM:136800)
Gene: COL8A2
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 (OMIM:609140)
Gene: COL8A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1 (OMIM:136800)
Gene: COL8A2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: COL8A2
Phenotype: Ocular pain (HP:0200026)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Chorioretinal degeneration (HP:0200065)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Very low visual acuity (HP:0032122)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Increased corneal curvature (HP:0100692)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Amblyopia (HP:0000646)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Photophobia (HP:0000613)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Blurred vision (HP:0000622)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: COL8A2
Phenotype: Abnormal corneal endothelium morphology (HP:0011488)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: COL8A2
Phenotype: Reduced number of corneal endothelial cells (HP:0011491)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Reduced number of corneal endothelial cells (HP:0011491)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: COL8A2
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: COL8A2
Phenotype: Anterior synechiae of the anterior chamber (HP:0011483)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: COL8A2
Phenotype: Eye movement-induced pain (HP:0030857)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: COL8A2
Phenotype: Edema (HP:0000969)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)