{"Name":"Familial multiple nevi flammei","DiseaseID__c":"GARD:0003986","id":3986,"encodedName":"familial-multiple-nevi-flammei","IsDeleted":false,"Disease_Name_Full__c":"Familial multiple nevi flammei","Xref_IDs__c":"416377005; 763714006; C2931029; C3840; DOID:0111529; MEDGEN:419699; MONDO:0008094; OMIM:163000; ORPHA:624","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008094","Disease_Description__c":"A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.","GARD_Name__c":"Familial multiple nevi flammei","GARD_Synonym__c":"capillary malformations, congenital, 1, somatic, mosaic; familial multiple port-wine stains; nevi flammei; nevus flammeus; port wine birthmark; port wine nevus; port wine stain; port wine stain of skin; port wine stain of the skin; port wine type hemangioma; port-wine stain; port-wine stain of skin; salmon patch nevus","Curated_Disease_Description_Source__c":"MONDO:0008094","Curated_Disease_Description__c":"A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:624","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008094","ORPHANET_ID__c":"ORPHA:624","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Nevus flammeus múltiple familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"nevus flammeus múltiple familiar","Spanish_GARD_Synonym__c":"nevo flamigero múltiple familiar","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":"A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.","Curated_Disease_Description_Source__c":"MONDO:0008094","GARD_Synonym__c":"capillary malformations, congenital, 1, somatic, mosaic; familial multiple port-wine stains; nevi flammei; nevus flammeus; port wine birthmark; port wine nevus; port wine stain; port wine stain of skin; port wine stain of the skin; port wine type hemangioma; port-wine stain; port-wine stain of skin; salmon patch nevus","Name":"Familial multiple nevi flammei","estimateUsa":""}],"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":"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":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:624"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0235752"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003986","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419699","Source__c":"C2931029","Xref__c":"MEDGEN:419699"},{"URL__c":"https://www.orpha.net/en/disease/detail/624","Source__c":"C2931029; MONDO:0008094; ORPHA:624","Xref__c":"ORPHA:624"},{"URL__c":"https://www.omim.org/entry/163000","Source__c":"MONDO:0008094; ORPHA:624","Xref__c":"OMIM:163000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931029","Source__c":"C2931029","Xref__c":"C2931029"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=416377005","Source__c":"MONDO:0008094","Xref__c":"416377005"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111529","Source__c":"MONDO:0008094","Xref__c":"DOID:0111529"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3840","Source__c":"MONDO:0008094","Xref__c":"C3840"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008094","Source__c":"GARD:0003986","Xref__c":"MONDO:0008094"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763714006","Source__c":"C2931029","Xref__c":"763714006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNAQ","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gnaq","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002814","HPO_Synonym__c":"Abnormality of the leg; Abnormality of the lower limb; Lower limb deformities","HPO_Name__c":"Abnormality of the lower limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition within the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002514","HPO_Synonym__c":"Abnormal deposits of calcium in the brain","HPO_Name__c":"Cerebral calcification","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002301","HPO_Synonym__c":"Paralysis on one side of body","HPO_Name__c":"Hemiplegia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001052","HPO_Synonym__c":"Nevus simplex; port-wine stain","HPO_Name__c":"Nevus flammeus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002170","HPO_Synonym__c":"Bleeding within the skull","HPO_Name__c":"Intracranial hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001034","HPO_Synonym__c":"Hyperpigmented macules; Hyperpigmented spots","HPO_Name__c":"Hypermelanotic macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004936","HPO_Synonym__c":"Blood clot in vein","HPO_Name__c":"Venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005293","HPO_Synonym__c":"Poorly functioning veins","HPO_Name__c":"Venous insufficiency","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001269","HPO_Synonym__c":"Weakness of one side of body","HPO_Name__c":"Hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001291","HPO_Synonym__c":"Abnormality of cranial nerve; Abnormality of the cranial nerves; Cranial nerve disease; Cranial nerve involvement","HPO_Name__c":"Abnormal cranial nerve morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007400","HPO_Name__c":"Irregular hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A difference in length or diameter between the left and right leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100559","HPO_Synonym__c":"Left and right leg differ in length or width","HPO_Name__c":"Lower limb asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. 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Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002204","HPO_Synonym__c":"Blood clot in artery of lung","HPO_Name__c":"Pulmonary embolism","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100026","HPO_Name__c":"Arteriovenous malformation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002817","HPO_Synonym__c":"Abnormality of the arm; Abnormality of the upper limb","HPO_Name__c":"Abnormality of the upper limb","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Vascular Medicine","Pediatrics"],"Account":["Dermatology"]},"synonyms":["capillary malformations, congenital, 1, somatic, mosaic"," familial multiple port-wine stains"," nevi flammei"," nevus flammeus"," port wine birthmark"," port wine nevus"," port wine stain"," port wine stain of skin"," port wine stain of the skin"," port wine type hemangioma"," port-wine stain"," port-wine stain of skin"," salmon patch nevus"]}