Macroglossia
Symptom Information:
Symptom ID: | HPO:0000158 | |||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of head or neck(HPO:0000152) Abnormality of the head(HPO:0000234) Abnormality of the face(HPO:0000271) Abnormality of the mouth(HPO:0000153) Abnormality of the oral cavity(HPO:0000163) Abnormality of the tongue(HPO:0000157) Macroglossia(HPO:0000158) Abnormality of the musculature(HPO:0003011) Abnormality of muscle morphology(HPO:0011805) Skeletal muscle hypertrophy(HPO:0003712) Macroglossia(HPO:0000158) MedDRA: Gastrointestinal disorders(MedDRA:10017947) Tongue conditions(MedDRA:10043946) Tongue disorders(MedDRA:10043954) Macroglossia(HPO:0000158) |
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Database Frequency: | 119 / 7739 | |||||||||||||||||||
Resource: |
All diseases associated with this symptom:
14q12 microdeletion syndrome | (Orphanet:261144) |
AL amyloidosis | (Orphanet:85443) |
Acquired hypertrichosis lanuginosa | (Orphanet:2221) |
Acromegaloid facial appearance syndrome | (Orphanet:965) |
Acromegaly | (Orphanet:963) |
Alpha-mannosidosis | (Orphanet:61) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 | (Orphanet:98791) |
Angelman syndrome | (Orphanet:72) |
Aspartylglucosaminuria | (Orphanet:93) |
Athyreosis | (Orphanet:95713) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive limb-girdle muscular dystrophy type 2C | (Orphanet:353) |
Autosomal recessive limb-girdle muscular dystrophy type 2E | (Orphanet:119) |
Autosomal recessive limb-girdle muscular dystrophy type 2I | (Orphanet:34515) |
Bardet-Biedl syndrome 7 | (OMIM:615984) |
Beckwith-Wiedemann syndrome | (Orphanet:116) |
Beckwith-Wiedemann syndrome due to 11p15 microdeletion | (Orphanet:231127) |
Beckwith-Wiedemann syndrome due to 11p15 microduplication | (Orphanet:96076) |
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion | (Orphanet:231130) |
Beckwith-Wiedemann syndrome due to CDKN1C mutation | (Orphanet:231120) |
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 | (Orphanet:231117) |
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 | (Orphanet:96193) |
CANDIDIASIS, FAMILIAL, 8 | (OMIM:615527) |
CANDLE syndrome | (Orphanet:325004) |
Cabezas syndrome | (Orphanet:85293) |
Central congenital hypothyroidism | (Orphanet:226298) |
Cerebro-costo-mandibular syndrome | (Orphanet:1393) |
Chondrodysplasia, Blomstrand type | (Orphanet:50945) |
Congenital hypothyroidism | (Orphanet:442) |
Congenital hypothyroidism due to developmental anomaly | (Orphanet:95711) |
Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies | (Orphanet:95715) |
Congenital macroglossia | (Orphanet:2430) |
Congenital muscular dystrophy with cerebellar involvement | (Orphanet:370959) |
Costello syndrome | (Orphanet:3071) |
Cowden syndrome | (Orphanet:201) |
Developmental malformations - deafness - dystonia | (Orphanet:79107) |
Distal 22q11.2 microduplication syndrome | (Orphanet:261337) |
Down syndrome | (Orphanet:870) |
Dysostosis, Stanescu type | (Orphanet:1798) |
Embryofetopathy due to oral anticoagulant therapy | (Orphanet:1914) |
FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION | (OMIM:227250) |
Familial thyroid dyshormonogenesis | (Orphanet:95716) |
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease | (Orphanet:439854) |
Fucosidosis | (Orphanet:349) |
GM1 gangliosidosis | (Orphanet:354) |
Glycogen storage disease due to acid maltase deficiency | (Orphanet:365) |
Glycogen storage disease due to acid maltase deficiency, infantile onset | (Orphanet:308552) |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 | (OMIM:614450) |
Hurler syndrome | (Orphanet:93473) |
Hurler-Scheie syndrome | (Orphanet:93476) |
Hypothyroidism due to TSH receptor mutations | (Orphanet:90673) |
ICF syndrome | (Orphanet:2268) |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1 | (OMIM:242860) |
Idiopathic congenital hypothyroidism | (Orphanet:95717) |
Intellectual deficit, X-linked - seizures - psoriasis | (Orphanet:3052) |
Isolated thyroid-stimulating hormone deficiency | (Orphanet:90674) |
JMP syndrome | (Orphanet:324999) |
Joubert syndrome | (Orphanet:475) |
Kleefstra syndrome | (Orphanet:261494) |
Kleefstra syndrome due to 9q34 microdeletion | (Orphanet:96147) |
Lethal polymalformative syndrome, Boissel type | (Orphanet:210144) |
Leukocyte adhesion deficiency | (Orphanet:2968) |
Lhermitte-Duclos disease | (Orphanet:65285) |
Lipoid proteinosis | (Orphanet:530) |
MITOCHONDRIAL MYOPATHY | (OMIM:251900) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 | (OMIM:613150) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1 | (OMIM:613155) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 | (OMIM:613156) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6 | (OMIM:608840) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 | (OMIM:616052) |
Marshall-Smith syndrome | (Orphanet:561) |
Melkersson-Rosenthal syndrome | (Orphanet:2483) |
Microcephaly - intellectual deficit - phalangeal and neurological anomalies | (Orphanet:137658) |
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | (Orphanet:254864) |
Mucolipidosis type 2 | (Orphanet:576) |
Mucopolysaccharidosis type 2 | (Orphanet:580) |
Mucopolysaccharidosis type 2, severe form | (Orphanet:217085) |
Mucopolysaccharidosis type 6 | (Orphanet:583) |
Mulibrey nanism | (Orphanet:2576) |
Muscular pseudohypertrophy - hypothyroidism | (Orphanet:2349) |
Nakajo-Nishimura syndrome | (Orphanet:2615) |
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 | (OMIM:613038) |
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM | (OMIM:614501) |
Peripheral hypothyroidism | (Orphanet:226310) |
Peripheral resistance to thyroid hormones | (Orphanet:97927) |
Permanent congenital hypothyroidism | (Orphanet:226292) |
Pontocerebellar hypoplasia, type 9 | (OMIM:615809) |
Primary congenital hypothyroidism | (Orphanet:226295) |
Primary congenital hypothyroidism without thyroid developmental anomaly | (Orphanet:95714) |
Proteasome disability syndrome | (Orphanet:324977) |
Resistance to thyrotropin-releasing hormone syndrome | (Orphanet:99832) |
Rhizomelic syndrome, Urbach type | (Orphanet:3098) |
Sandhoff disease | (Orphanet:796) |
Sandhoff disease, adult form | (Orphanet:309169) |
Sandhoff disease, infantile form | (Orphanet:309155) |
Sandhoff disease, juvenile form | (Orphanet:309162) |
Scheie syndrome | (Orphanet:93474) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Short rib-polydactyly syndrome | (Orphanet:1505) |
Simpson-Golabi-Behmel syndrome | (Orphanet:373) |
Smith-Magenis syndrome | (Orphanet:819) |
Stickler syndrome | (Orphanet:828) |
TENORIO SYNDROME | (OMIM:616260) |
THYROID DYSHORMONOGENESIS 1 | (OMIM:274400) |
Tetrasomy 12p | (Orphanet:884) |
Thyroid ectopia | (Orphanet:95712) |
Thyroid hemiagenesis | (Orphanet:95719) |
Thyroid hypoplasia | (Orphanet:95720) |
Transient congenital hypothyroidism | (Orphanet:178045) |
Trichodermal syndrome - intellectual deficit | (Orphanet:3360) |
Triploidy | (Orphanet:3376) |
Trisomy 17p | (Orphanet:261290) |
Williams syndrome | (Orphanet:904) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
Zellweger syndrome | (Orphanet:912) |
Zimmermann-Laband syndrome | (Orphanet:3473) |
[DEL] GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL | (OMIM:261740) |