TaoMedAI/RareMedData huggingface dataset:
Gene: C1QBP
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Amblyopia (HP:0000646)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Myopathy (HP:0003198)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Fatigue (HP:0012378)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Astigmatism (HP:0000483)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Ptosis (HP:0000508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: SERPING1
Phenotype: Limbal edema (HP:0025349)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Laryngeal edema (HP:0012027)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Laryngeal edema (HP:0012027)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF (OMIM:120790)
Gene: SERPING1
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Hypotension (HP:0002615)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Abnormal uvula morphology (HP:0000172)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Reduced circulating CH50 activity (HP:0025434)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF (OMIM:120790)
Gene: SERPING1
Phenotype: Nausea (HP:0002018)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Tongue edema (HP:0040315)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Diarrhea (HP:0002014)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Diarrhea (HP:0002014)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Vomiting (HP:0002013)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Vomiting (HP:0002013)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Periorbital edema (HP:0100539)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Dyspnea (HP:0002094)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Pharyngeal edema (HP:0011855)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Pharyngeal edema (HP:0011855)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Paresthesia (HP:0003401)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Abnormal soft palate morphology (HP:0100736)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Dermatographic urticaria (HP:0011971)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Urticaria (HP:0001025)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Angioedema (HP:0100665)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Erythema (HP:0010783)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Childhood onset (HP:0011463)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Young adult onset (HP:0011462)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Decreased circulating C1-esterase inhibitor concentration (HP:0034204)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Axonal degeneration (HP:0040078)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Facial edema (HP:0000282)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Abnormal respiratory system morphology (HP:0012252)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Intestinal edema (HP:0005225)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Intestinal edema (HP:0005225)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Gene: SERPING1
Phenotype: Inspiratory stridor (HP:0005348)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: SERPING1
Phenotype: Abnormal epiglottis morphology (HP:0005483)
Associated disease: Hereditary angioedema type 1; Hereditary angioneurotic edema type 1; HAE 1; HAE-I (ORPHA:100050)
Gene: C1QA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: C1q DEFICIENCY (OMIM:613652)
Gene: C1QA
Phenotype: Recurrent infections (HP:0002719)
Associated disease: C1q DEFICIENCY (OMIM:613652)
Gene: C1QA
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: C1q DEFICIENCY (OMIM:613652)
Gene: C1QA
Phenotype: Membranoproliferative glomerulonephritis (HP:0000793)
Associated disease: C1q DEFICIENCY (OMIM:613652)
Gene: C1QA
Phenotype: Autoimmunity (HP:0002960)
Associated disease: C1q DEFICIENCY (OMIM:613652)
Gene: C1QA
Phenotype: Decreased circulating complement factor I concentration (HP:0005356)
Associated disease: C1q DEFICIENCY (OMIM:613652)
Gene: C1QB
Phenotype: Sepsis (HP:0100806)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Arthritis (HP:0001369)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Malar rash (HP:0025300)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Oral ulcer (HP:0000155)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Reduced circulating CH50 activity (HP:0025434)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Chilblains (HP:0009710)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Atelectasis (HP:0100750)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Persistent fever (HP:0033399)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Decreased circulating C1q concentration (HP:0034601)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Facial erythema (HP:0001041)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Vasculitis in the skin (HP:0200029)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Pneumocystis jirovecii pneumonia (HP:0020102)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Extractable nuclear antigen positivity (HP:0033476)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Anemia (HP:0001903)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Childhood onset (HP:0011463)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Arthralgia (HP:0002829)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Rheumatoid factor positive (HP:0002923)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QB
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: C1q DEFICIENCY 2 (OMIM:620321)
Gene: C1QC
Phenotype: Recurrent bacterial meningitis (HP:0007274)
Associated disease: C1q DEFICIENCY 3 (OMIM:620322)
Gene: C1QC
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: C1q DEFICIENCY 3 (OMIM:620322)
Gene: C1QC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: C1q DEFICIENCY 3 (OMIM:620322)
Gene: C1QC
Phenotype: Neonatal omphalitis (HP:0032435)
Associated disease: C1q DEFICIENCY 3 (OMIM:620322)
Gene: C1QC
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: C1q DEFICIENCY 3 (OMIM:620322)
Gene: C1QC
Phenotype: Decreased circulating C1q concentration (HP:0034601)
Associated disease: C1q DEFICIENCY 3 (OMIM:620322)
Gene: C1QC
Phenotype: Neonatal onset (HP:0003623)
Associated disease: C1q DEFICIENCY 3 (OMIM:620322)
Gene: C1QC
Phenotype: Juvenile onset (HP:0003621)
Associated disease: C1q DEFICIENCY 3 (OMIM:620322)
Gene: C1QC
Phenotype: Childhood onset (HP:0011463)
Associated disease: C1q DEFICIENCY 3 (OMIM:620322)
Gene: C1R
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Tall stature (HP:0000098)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Joint dislocation (HP:0001373)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1R
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Palmoplantar cutis laxa (HP:0007517)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Scoliosis (HP:0002650)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1R
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1R
Phenotype: Atrophy of alveolar ridges (HP:0006308)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1R
Phenotype: Alveolar bone loss around teeth (HP:0410027)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Recurrent infections (HP:0002719)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Gingival fragility (HP:0034518)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Pretibial hyperpigmentation (HP:0034517)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Poor wound healing (HP:0001058)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1R
Phenotype: Fragile skin (HP:0001030)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Atrophic scars (HP:0001075)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Atrophic scars (HP:0001075)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1R
Phenotype: Microdontia (HP:0000691)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1R
Phenotype: Short stature (HP:0004322)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1R
Phenotype: Periodontitis (HP:0000704)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1R
Phenotype: Periodontitis (HP:0000704)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Gingival recession (HP:0030816)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Soft skin (HP:0000977)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1R
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Thin skin (HP:0000963)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Arthralgia (HP:0002829)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1R
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Intestinal perforation (HP:0031368)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Hoarse voice (HP:0001609)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Micrognathia (HP:0000347)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1R
Phenotype: Autoimmunity (HP:0002960)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1R
Phenotype: Blue sclerae (HP:0000592)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 (OMIM:130080)
Gene: C1S
Phenotype: Joint dislocation (HP:0001373)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1S
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Scoliosis (HP:0002650)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Hepatitis (HP:0012115)
Associated disease: COMPLEMENT COMPONENT C1s DEFICIENCY (OMIM:613783)
Gene: C1S
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1S
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1S
Phenotype: Atrophy of alveolar ridges (HP:0006308)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)
Gene: C1S
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: COMPLEMENT COMPONENT C1s DEFICIENCY (OMIM:613783)
Gene: C1S
Phenotype: Gingival fragility (HP:0034518)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Pretibial hyperpigmentation (HP:0034517)
Associated disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Gene: C1S
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: pEDS; Ehlers-Danlos syndrome, periodontitis type; Periodontal EDS; EDS VIII; Ehlers-Danlos syndrome type 8; Periodontal Ehlers-Danlos syndrome (ORPHA:75392)