{"Name":"MOGS-congenital disorder of glycosylation","DiseaseID__c":"GARD:0010767","id":10767,"encodedName":"mogs-congenital-disorder-of-glycosylation","IsDeleted":false,"Disease_Name_Full__c":"MOGS-congenital disorder of glycosylation","Xref_IDs__c":"725028009; C1853736; C565264; DOID:0070254; MEDGEN:342954; MONDO:0011629; OMIM:606056; ORPHA:79330","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011629","Disease_Description__c":"MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene <i> MOGS </i> (2p13.1).","GARD_Name__c":"MOGS-congenital disorder of glycosylation","GARD_Synonym__c":"carbohydrate deficient glycoprotein syndrome type iib; cdg 2b; cdg iib; cdg syndrome type iib; cdg-iib; cdg2b; congenital disorder of glycosylation type 2b; congenital disorder of glycosylation type iib; glucosidase 1 deficiency; glucosidase i deficiency; mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation; mogs cdg - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation; mogs-cdg; mogs-cdg (cdg-iib)","Curated_Disease_Description_Source__c":"MONDO:0011629","Curated_Disease_Description__c":"MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene  MOGS  (2p13.1).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79330","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011629","ORPHANET_ID__c":"ORPHA:79330","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Gcs1-cdg","Spanish_Description_Source__c":"ORPHA:79330","Spanish_Description__c":"Es un trastorno congénito de la N-glicosilación caracterizado por hipotonía generalizada, dismorfia craneofacial (occipucio prominente, fisuras palpebrales cortas, pestañas largas, nariz ancha, paladar ojival, retrognatia), hipoplasia genital, convulsiones, dificultades en la alimentación, hipoventilación, hipogammaglobulinemia grave con edema generalizado y una mayor resistencia a determinadas infecciones víricas (especialmente a virus encapsulados). La enfermedad está causada por mutaciones de pérdida de función en el gen <i>MOGS</i> (2p13.1).","Spanish_Disease_Name__c":"gcs1-cdg","Spanish_GARD_Synonym__c":"cdg-iib; cdg2b; deficiencia de glucosidasa 1; síndrome cdg tipo iib; síndrome de glicoproteínas deficientes en carbohidratos tipo iib; trastorno congénito de la glicosilación tipo 2b; trastorno congénito de la glicosilación tipo iib","Category_Linearization__c":"ORPHA:68367","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":"MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene  MOGS  (2p13.1).","Curated_Disease_Description_Source__c":"MONDO:0011629","GARD_Synonym__c":"carbohydrate deficient glycoprotein syndrome type iib; cdg 2b; cdg iib; cdg syndrome type iib; cdg-iib; cdg2b; congenital disorder of glycosylation type 2b; congenital disorder of glycosylation type iib; glucosidase 1 deficiency; glucosidase i deficiency; mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation; mogs cdg - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation; mogs-cdg; mogs-cdg (cdg-iib)","Name":"MOGS-congenital disorder of glycosylation","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CDG CARE","Website__c":"https://cdgcare.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:79330"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79330"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1853736"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010767","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1332","Source__c":"Gene Review","Xref__c":"NBK1332"},{"URL__c":"https://www.omim.org/entry/606056","Source__c":"C1853736; MONDO:0011629; ORPHA:79330","Xref__c":"OMIM:606056"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853736","Source__c":"C1853736","Xref__c":"C1853736"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565264","Source__c":"MONDO:0011629","Xref__c":"C565264"},{"URL__c":"https://www.orpha.net/en/disease/detail/79330","Source__c":"C1853736; MONDO:0011629; ORPHA:79330","Xref__c":"ORPHA:79330"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=342954","Source__c":"C1853736","Xref__c":"MEDGEN:342954"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070254","Source__c":"MONDO:0011629","Xref__c":"DOID:0070254"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725028009","Source__c":"C1853736; MONDO:0011629","Xref__c":"725028009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011629","Source__c":"GARD:0010767","Xref__c":"MONDO:0011629"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MOGS","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased levels of immunoglobulin A (IgA).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002720","HPO_Synonym__c":"Decreased circulating IgA level; Decreased IgA; Decreased immunoglobulin A; Gamma-A globulin deficiency; IgA deficiency; Low levels of immunoglobulin A; Reduced IgA levels","HPO_Name__c":"Decreased circulating IgA concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010557","HPO_Name__c":"Overlapping fingers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012745","HPO_Synonym__c":"Decreased height of palpebral fissure; Short opening between the eyelids; Short palpebral fissures","HPO_Name__c":"Short palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000527","HPO_Synonym__c":"Ciliary trichomegaly; Eyelash trichomegaly; Increased length of eyelashes; Long eyelashes; Unusually long eyelashes","HPO_Name__c":"Long eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased convexity of the occiput (posterior part of the skull).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000269","HPO_Synonym__c":"Prominent back of the skull; Prominent posterior cranium; Prominent posterior skull; Protruding occiput","HPO_Name__c":"Prominent occiput","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031218","HPO_Synonym__c":"Inappropriate ADH secretion","HPO_Name__c":"Inappropriate antidiuretic hormone secretion","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Enlargement or increased size of the heart left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001712","HPO_Synonym__c":"Heart left ventricle hypertrophy; Left ventricular wall hypertrophy","HPO_Name__c":"Left ventricular hypertrophy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin G (IgG) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004315","HPO_Synonym__c":"Decreased circulating IgG level; Decreased gamma-globin expression; Decreased IgG level; Decreased IgG level in blood; Decreased immunoglobulin G; Decreased serum IgG; IgG deficiency; Reduced IgG levels","HPO_Name__c":"Decreased circulating IgG concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000445","HPO_Synonym__c":"Broad nose; Increased breadth of nose; Increased nasal breadth; Increased nasal width; Increased width of nose; Wide nose","HPO_Name__c":"Wide nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Generalized 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:0007430","HPO_Synonym__c":"Generalized tissue edema","HPO_Name__c":"Generalized edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004313","HPO_Synonym__c":"Decreased antibody level in blood; Decreased circulating antibody level; Decreased immunoglobulin level; Decreased serum immunoglobulin; Hypogammaglobulinemia; Immunoglobulin deficiency; Reduced immunoglobulin levels","HPO_Name__c":"Decreased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002104","HPO_Synonym__c":"Absence of spontaneous respiration; Apneic episodes; Apnoea","HPO_Name__c":"Apnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040288","HPO_Name__c":"Nasogastric tube feeding","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002943","HPO_Name__c":"Thoracic scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","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:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001640","HPO_Synonym__c":"Enlarged heart; Increased heart size","HPO_Name__c":"Cardiomegaly","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008947","HPO_Synonym__c":"Decreased muscle tone in infant; Hypotonia early; Hypotonia in infancy; Hypotonia, early; Infantile hypotonia; Infantile muscular hypotonia","HPO_Name__c":"Floppy infant","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of measurable response to stimulation of auditory evoked potentials.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004463","HPO_Synonym__c":"No auditory brainstem response","HPO_Name__c":"Absent brainstem auditory responses","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Frequent (30-79%)","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:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002791","HPO_Synonym__c":"Alveolar hypoventilation; Slow breathing; Under breathing","HPO_Name__c":"Hypoventilation","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A lesser degree of hair pigmentation than would otherwise be expected.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002286","HPO_Synonym__c":"Blond hair; Fair hair; Fair hair color; Flaxen hair color; Light colored hair; Sandy hair color; Straw colored hair; Towhead (hair color)","HPO_Name__c":"Fair hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000034","HPO_Synonym__c":"Testicular hydrocele","HPO_Name__c":"Hydrocele testis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Fluid accumulation in the lungs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100598","HPO_Synonym__c":"Excess fluid in lungs; Lung edema; Pulmonary edema; Wet lung","HPO_Name__c":"Pulmonary edema","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of part or all of the external reproductive organs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003241","HPO_Synonym__c":"Hypogenitalism; Small genitalia; Underdevelopment of external reproductive organs","HPO_Name__c":"External genital hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in which the mandible is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000278","HPO_Synonym__c":"Lower jaw retrognathia; Lower jaw retrusion; Mandibular retrognathia; Mandibular retrusion; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Retrusion of lower jaw; Weak chin; Weak jaw","HPO_Name__c":"Retrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012450","HPO_Synonym__c":"Chronic constipation; Infrequent bowel movements","HPO_Name__c":"Chronic constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A partial or complete breakage of the continuity of a bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020110","HPO_Name__c":"Bone fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin M (IgM) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002850","HPO_Synonym__c":"Decreased IgM; Decreased IgM level; IgM deficiency; Reduced IgM levels","HPO_Name__c":"Decreased circulating total IgM","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000649","HPO_Synonym__c":"Abnormal vision evoked potentials; Abnormal visual evoked potential; Abnormal visual evoked responses; Abnormal visual-evoked potentials; VEP abnormalities","HPO_Name__c":"Abnormality of visual evoked potentials","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79330","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001007","HPO_Synonym__c":"Excessive hairiness","HPO_Name__c":"Hirsutism","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Immunology","Gastroenterology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Primary Immune Deficiencies","Epilepsy"]},"synonyms":["carbohydrate deficient glycoprotein syndrome type iib"," cdg 2b"," cdg iib"," cdg syndrome type iib"," cdg-iib"," cdg2b"," congenital disorder of glycosylation type 2b"," congenital disorder of glycosylation type iib"," glucosidase 1 deficiency"," glucosidase i deficiency"," mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation"," mogs cdg - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation"," mogs-cdg"," mogs-cdg (cdg-iib)"]}