{"Name":"Recessive dystrophic epidermolysis bullosa","DiseaseID__c":"GARD:0006308","id":6308,"encodedName":"recessive-dystrophic-epidermolysis-bullosa","IsDeleted":false,"Disease_Name_Full__c":"Recessive dystrophic epidermolysis bullosa","Xref_IDs__c":"48528004; C0079474; C156446; DOID:0060642; MEDGEN:36311; MONDO:0009179; OMIM:226600; ORPHA:79408","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009179","Disease_Description__c":"A severe form of dystrophic epidermolysis bullosa (DEB) characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.","GARD_Name__c":"Recessive dystrophic epidermolysis bullosa","GARD_Synonym__c":"autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type; autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; dysplastic epidermolysis bullosa dystrophica; dystrophic epidermolysis bullosa, autosomal recessive; ebd inversa; epidermolysis bullosa distrophica autosomal recessive (rdeb); epidermolysis bullosa dystrophica, ar; epidermolysis bullosa dystrophica, autosomal recessive; epidermolysis bullosa dystrophica, autosomal recessive, modifier of; epidermolysis bullosa dystrophica, generalized severe, autosomal recessive; epidermolysis bullosa dystrophica, hallopeau-siemens type; generalized rdeb, severe form; hallopeau-siemens disease; polydysplastic epidermolysis bullosa; rdeb; rdeb generalisata gravis; rdeb-sev gen; rdeb, hallopeau-siemens type; severe generalized rdeb; severe generalized recessive dystrophic epidermolysis bullosa","Curated_Disease_Description_Source__c":"GARD:0006308","Curated_Disease_Description__c":"Severe generalized recessive dystrophic epidermolysis bullosa is the most severe types of dystrophic epidermolysis bullosa. The signs and symptoms of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. As the blisters heal, they result in severe scarring. Scarring in the mouth and esophagus can make it difficult to eat food, leading to poor nutrition and slow growth. Additionally, individuals with this condition have a very high risk of developing a form of skin cancer called squamous cell carcinoma, which tends to be unusually aggressive. Severe generalized recessive dystrophic epidermolysis bullosa is caused by genetic changes in the COL7A1 gene and is inherited in an autosomal recessive pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:79408","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009179","ORPHANET_ID__c":"ORPHA:79408","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epidermólisis ampollosa distrófica generalizada grave autosómica recesiva","Spanish_Description_Source__c":"ORPHA:79408","Spanish_Description__c":"Es una forma grave de epidermólisis ampollosa distrófica (EAD) caracterizada por ampollas y cicatrices cutáneas y mucosas generalizadas asociadas a deformidades graves y afectación extracutánea importante.","Spanish_Disease_Name__c":"epidermólisis ampollosa distrófica generalizada grave autosómica recesiva","Spanish_GARD_Synonym__c":"epidermólisis ampollosa distrófica autosómica recesiva tipo hallopeau-siemens; epidermólisis bullosa distrófica generalizada grave autosómica recesiva; rdeb generalizada grave; rdeb, tipo hallopeau-siemens","Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Severe generalized recessive dystrophic epidermolysis bullosa is the most severe types of dystrophic epidermolysis bullosa. The signs and symptoms of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. As the blisters heal, they result in severe scarring. Scarring in the mouth and esophagus can make it difficult to eat food, leading to poor nutrition and slow growth. Additionally, individuals with this condition have a very high risk of developing a form of skin cancer called squamous cell carcinoma, which tends to be unusually aggressive. Severe generalized recessive dystrophic epidermolysis bullosa is caused by genetic changes in the COL7A1 gene and is inherited in an autosomal recessive pattern.","Curated_Disease_Description_Source__c":"GARD:0006308","GARD_Synonym__c":"autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type; autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; dysplastic epidermolysis bullosa dystrophica; dystrophic epidermolysis bullosa, autosomal recessive; ebd inversa; epidermolysis bullosa distrophica autosomal recessive (rdeb); epidermolysis bullosa dystrophica, ar; epidermolysis bullosa dystrophica, autosomal recessive; epidermolysis bullosa dystrophica, autosomal recessive, modifier of; epidermolysis bullosa dystrophica, generalized severe, autosomal recessive; epidermolysis bullosa dystrophica, hallopeau-siemens type; generalized rdeb, severe form; hallopeau-siemens disease; polydysplastic epidermolysis bullosa; rdeb; rdeb generalisata gravis; rdeb-sev gen; rdeb, hallopeau-siemens type; severe generalized rdeb; severe generalized recessive dystrophic epidermolysis bullosa","Name":"Recessive dystrophic epidermolysis bullosa","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"DEBRA of America","Website__c":"https://www.debra.org/"},{"Account_Name__c":"DEBRA International","Website__c":"https://www.debra-international.org/"},{"Account_Name__c":"Epidermolysis Bullosa Medical Research Foundation","Website__c":"https://ebmrf.org/"},{"Account_Name__c":"EB Research Partnership","Website__c":"https://www.ebresearch.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79408"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006308","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1304","Source__c":"Gene Review","Xref__c":"NBK1304"},{"URL__c":"https://www.omim.org/entry/226600","Source__c":"C0079474; MONDO:0009179; ORPHA:79408","Xref__c":"OMIM:226600"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0079474","Source__c":"C0079474","Xref__c":"C0079474"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=48528004","Source__c":"C0079474; MONDO:0009179","Xref__c":"48528004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=36311","Source__c":"C0079474","Xref__c":"MEDGEN:36311"},{"URL__c":"https://www.orpha.net/en/disease/detail/79408","Source__c":"C0079474; MONDO:0009179","Xref__c":"ORPHA:79408"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060642","Source__c":"MONDO:0009179","Xref__c":"DOID:0060642"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009179","Source__c":"GARD:0006308","Xref__c":"MONDO:0009179"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C156446","Source__c":"C0079474","Xref__c":"C156446"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL7A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col7a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of immunoglobulin A deposits in the glomerulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000794","HPO_Name__c":"IgA deposition in the glomerulus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced concentration of zinc in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031831","HPO_Name__c":"Decreased serum zinc","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001644","HPO_Synonym__c":"Cardiomyopathy, dilated; Congestive cardiomyopathy; DCM; Stretched and thinned heart muscle","HPO_Name__c":"Dilated cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001965","HPO_Synonym__c":"Abnormality of the scalp; Anomaly of scalp","HPO_Name__c":"Abnormal scalp morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal circulating concentration of selenium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031903","HPO_Synonym__c":"Abnormal serum selenium concentration","HPO_Name__c":"Abnormal circulating selenium concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the urinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000079","HPO_Synonym__c":"Urinary tract abnormalities; Urinary tract abnormality; Urinary tract anomalies","HPO_Name__c":"Abnormality of the urinary system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of squamous cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002860","HPO_Name__c":"Squamous cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010296","HPO_Synonym__c":"Tongue tied","HPO_Name__c":"Ankyloglossia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The presence of a basal cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002671","HPO_Synonym__c":"Basal cell carcinomas; Basal cell epithelioma; Basal cell nevus; Basalioma","HPO_Name__c":"Basal cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031446","HPO_Name__c":"Erosion of oral mucosa","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Blisters arising in the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200097","HPO_Synonym__c":"Blebs of oral mucosa; Blisters of mouth; Bullae of oral mucosa; Oral blistering; Oral mucosal blisters","HPO_Name__c":"Oral mucosal blisters","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Skin that splits easily with minimal injury.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001030","HPO_Synonym__c":"Fragile skin; Skin fragility","HPO_Name__c":"Fragile skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased concentration of total carnitine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011936","HPO_Synonym__c":"Decreased plasma total carnitine","HPO_Name__c":"Decreased plasma total carnitine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The concentration of vitamin D in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100512","HPO_Synonym__c":"Deficient in vitamin D; Low levels of vitamin D; Vitamin D deficiency","HPO_Name__c":"Decreased circulating vitamin D concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency in the intake of energy and nutrients.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004395","HPO_Synonym__c":"Malnutrition","HPO_Name__c":"Malnutrition","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infections of the skin that happen multiple times.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001581","HPO_Synonym__c":"Recurrent cutaneous infections; Recurrent skin infections; Skin infections, recurrent","HPO_Name__c":"Recurrent skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the respiratory system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012252","HPO_Name__c":"Abnormal respiratory system morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012390","HPO_Name__c":"Anal fissure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000160","HPO_Synonym__c":"Microstomia; Narrow mouth; Small mouth; Small oral aperture","HPO_Name__c":"Narrow mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the eye, including location, spacing, and intraocular abnormalities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000478","HPO_Synonym__c":"Abnormal eye; Abnormality of the eye","HPO_Name__c":"Abnormality of the eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal function of a sphincter of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002839","HPO_Synonym__c":"Sphincter disturbance; Sphincter disturbances","HPO_Name__c":"Urinary bladder sphincter dysfunction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly in the metabolism of a vitamin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100508","HPO_Synonym__c":"Abnormality of vitamin metabolism","HPO_Name__c":"Abnormality of vitamin metabolism","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the renal glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000099","HPO_Synonym__c":"Glomerular nephritis","HPO_Name__c":"Glomerulonephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000823","HPO_Synonym__c":"Delayed pubertal development; Delayed pubertal growth; Delayed puberty; Pubertal delay","HPO_Name__c":"Delayed puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Narrowing of the urethra associated with inflammation or scar tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012227","HPO_Name__c":"Urethral stricture","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An erosion or abrasion of the cornea's outermost layer of epithelial cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200020","HPO_Synonym__c":"Damage to outer layer of the cornea of the eye","HPO_Name__c":"Corneal erosion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012532","HPO_Synonym__c":"Chronic pain; Long-lasting pain","HPO_Name__c":"Chronic pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001891","HPO_Synonym__c":"Ferropenic; Iron-deficiency anemia","HPO_Name__c":"Iron deficiency anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001057","HPO_Synonym__c":"Absence of part of skin at birth; Congenital absence of skin; Cutis aplasia","HPO_Name__c":"Aplasia cutis congenita","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032676","HPO_Synonym__c":"Chronic nonhealing cutaneous wound","HPO_Name__c":"Chronic cutaneous wound","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004791","HPO_Synonym__c":"Esophagus ulcer; Oesophagus ulceration","HPO_Name__c":"Esophageal ulceration","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008366","HPO_Synonym__c":"Contractures involving the joints of the feet; Contractures of the foot joints; Joint contractures involving the joints of the feet","HPO_Name__c":"Foot joint contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dental enamel.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006297","HPO_Synonym__c":"Dental enamel hypoplasia; Enamel hypotrophy; Enamel, underdeveloped; Hypoplasia of dental enamel; Hypoplasia of tooth enamel; Underdeveloped teeth enamel","HPO_Name__c":"Enamel hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001917","HPO_Name__c":"Renal amyloidosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a melanoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012056","HPO_Name__c":"Cutaneous melanoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000670","HPO_Synonym__c":"Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay","HPO_Name__c":"Carious teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the alimentary part of the gastrointestinal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004386","HPO_Synonym__c":"Gastrointestinal inflammation; GI inflammation","HPO_Name__c":"Gastrointestinal inflammation","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001056","HPO_Synonym__c":"Milk spot; Millium cyst","HPO_Name__c":"Milia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Aplasia of the nail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001798","HPO_Synonym__c":"Absent nails; Aplastic nails","HPO_Name__c":"Anonychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin that is not localized to any one particular region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011354","HPO_Synonym__c":"Generalised abnormality of skin; Generalized abnormality of skin","HPO_Name__c":"Generalized abnormality of skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Functional anomaly of the kidney persisting for at least three months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012622","HPO_Synonym__c":"Chronic kidney disease; CKD","HPO_Name__c":"Chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031464","HPO_Name__c":"Genital blistering","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001075","HPO_Synonym__c":"Sunken or indented skin due to damage; Thin, atrophic scars","HPO_Name__c":"Atrophic scars","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79408","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \\\"mitten\\\" hand deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004057","HPO_Synonym__c":"Pseudosyndactyly","HPO_Name__c":"Mitten deformity","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Dermatology","Anterior segment of Eye","Pediatrics"],"Account":["Dermatology"]},"synonyms":["autosomal recessive dystrophic epidermolysis bullosa generalisata gravis"," autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type"," autosomal recessive generalized dystrophic epidermolysis bullosa, severe form"," dysplastic epidermolysis bullosa dystrophica"," dystrophic epidermolysis bullosa, autosomal recessive"," ebd inversa"," epidermolysis bullosa distrophica autosomal recessive (rdeb)"," epidermolysis bullosa dystrophica, ar"," epidermolysis bullosa dystrophica, autosomal recessive"," epidermolysis bullosa dystrophica, autosomal recessive, modifier of"," epidermolysis bullosa dystrophica, generalized severe, autosomal recessive"," epidermolysis bullosa dystrophica, hallopeau-siemens type"," generalized rdeb, severe form"," hallopeau-siemens disease"," polydysplastic epidermolysis bullosa"," rdeb"," rdeb generalisata gravis"," rdeb-sev gen"," rdeb, hallopeau-siemens type"," severe generalized rdeb"," severe generalized recessive dystrophic epidermolysis bullosa"]}