Gene Summary

Name:
leucine rich repeat containing G protein coupled receptor 5
Synonyms:
Gpr49

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
no spontaneous movement Lgr5em1(IMPC)KMPC HOM E18.5 0.00
preweaning lethality, complete penetrance Lgr5em1(IMPC)KMPC HOM   Early adult 0.00
cleft palate Lgr5em1(IMPC)KMPC HOM E18.5 0.00
increased CD11b-high dendritic cell number Lgr5em1(IMPC)KMPC HET Early adult 1.13×10-06
increased grip strength Lgr5em1(IMPC)KMPC HET   Early adult 9.12×10-06
increased circulating bilirubin level Lgr5em1(IMPC)KMPC HET Early adult 2.33×10-05
increased CD8-positive, CD25-positive alpha-beta T cell number Lgr5em1(IMPC)KMPC HET Early adult 5.48×10-06
no spontaneous movement Lgr5em1(IMPC)KMPC HET E18.5 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

Eye Morphology

Images Slit Lamp

16 Images

Eye Morphology

Images Ophthalmoscopy

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

Human diseases caused by Lgr5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lgr5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Pierre Robin Syndrome
Pierre-Robin sequence, Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cle... OMIM:261800
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Glossoptosis, Upper airway obstruction, Cleft palate ORPHA:718
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Congenital Pancreatic Cyst
Abdominal pain, Anorexia, Jaundice, Vomiting, Abdominal distention ORPHA:313906
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Abdominal colic, Diarrhea, Abdominal distention ORPHA:35122
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Anemia of inadequate production, Sple... OMIM:237800
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory distress, Dysphagia, Respiratory insufficiency, Respi... OMIM:614399
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Laryngotracheoesophageal Cleft
Choking episodes, Dyspnea, Cough, Neonatal respiratory distress, Impaired oropharyngeal swallow r... ORPHA:2004
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Nemaline Myopathy 8
Dysphagia, Respiratory failure, Gastrostomy tube feeding in infancy, Death in infancy OMIM:615348
Neuralgic Amyotrophy
Acrocyanosis, Narrow mouth, Respiratory insufficiency, Cleft palate ORPHA:2901
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Anemia of inadequate production, Anem... OMIM:613673
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Feeding difficulties, Cough, Intercostal retractions, Vomi... ORPHA:137935
Pyknoachondrogenesis
Stillbirth OMIM:265880
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cleft palate, Non-midline cleft lip, Tooth agenesis ORPHA:1074
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Dysphagia, Respiratory insufficiency OMIM:617892
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Colonic Atresia
Abdominal distention, Colonic atresia OMIM:303650
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Respiratory failure, Respiratory insufficiency OMIM:253300
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Dysphagia, High palate, Feeding difficulties, Respiratory insufficiency OMIM:616323
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Dysphagia, Cough, Respiratory failure requiring assisted ventilation, Nasogastric tube f... ORPHA:90117
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Sprengel Deformity
Torticollis, Cleft palate ORPHA:3181
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Primary Effusion Lymphoma
Pleural effusion, Dyspnea, Abdominal distention, Abdominal pain ORPHA:48686
Solar Urticaria
Abnormal tongue morphology, Dyspnea, Wheezing, Nausea, Abnormal lip morphology, Angioedema, Urtic... ORPHA:97230
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Dysphagia, Reduced maximal inspiratory pressure, Respirat... ORPHA:266
Thyroid Hemiagenesis
Jaundice, Macroglossia, Constipation, Abdominal distention ORPHA:95719
Malaria
Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Feeding difficulties in infancy, Death in infancy, Glossoptosis OMIM:614876
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Respiratory failure, Gastrointestinal dysmotility OMIM:618637
Cirrhosis, Familial
Pulmonary arterial hypertension, Jaundice, Abdominal distention, Esophageal varix OMIM:215600
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
16P11.2P12.2 Microduplication Syndrome
Dystonia, Attention deficit hyperactivity disorder, Cleft palate ORPHA:261204
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Feeding difficulties, Death in infancy, Jaundice, Hepatic failure, Abdominal distention OMIM:618528
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Tetraamelia Syndrome 2
Ankyloglossia, Glossoptosis, Bilateral cleft lip OMIM:618021
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Feeding difficulties, Respiratory insufficiency OMIM:616081
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:612653
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis, Stridor OMIM:150260
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Adiposis Dolorosa
Constipation, Abdominal distention, Painful subcutaneous lipomas OMIM:103200
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Gastroesophageal reflux, Respiratory insufficiency, ... ORPHA:2924
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Volvulus Of Midgut
Constipation, Intestinal malrotation, Volvulus, Abdominal distention, Neonatal intestinal obstruc... OMIM:193250
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Ankyloglossia, Carious teeth, Esophageal stenosis, Malnutrition, Narrow mouth, Feeding difficulti... ORPHA:89842
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cough, Respiratory failure, Tachypnea, Cyanosis OMIM:263000
Athyreosis
Macroglossia, Constipation, Abdominal distention, Feeding difficulties ORPHA:95713
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Feeding difficulties, Respiratory insuffici... OMIM:605711
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Atresia Of Small Intestine
Feeding difficulties, Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Vomiting, A... ORPHA:1201
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Malnutrition, Abdominal pain, Constipation, Abdominal distention, Malabsorption, Gastrointestinal... OMIM:613662
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Lethal Osteosclerotic Bone Dysplasia
Median cleft lip and palate, Dyspnea, Gingival fibromatosis, Respiratory distress, Respiratory fa... ORPHA:1832
Cryptosporidiosis
Wheezing, Gastrointestinal obstruction, Respiratory distress, Abdominal pain, Dysphagia, Abdomina... ORPHA:1549
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia, Chronic constipation OMIM:619352
Puerto Rican Infant Hypotonia Syndrome
Long philtrum, Narrow palate, Drooling, Open mouth, Constipation, Chronic constipation, High pala... OMIM:600096
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:182900
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:185000
Choanal Atresia
Choking episodes, Respiratory distress, Feeding difficulties, Abnormal nasal mucus secretion, Tra... ORPHA:137914
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Dysphagia, Ventilator dependence with inability to wean, Respiratory insuff... ORPHA:254875
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Chronic atrophic gastritis, Colorectal polyposis, Dia... ORPHA:160148
Liver Failure, Infantile, Transient
Acute hepatic failure, Jaundice, Vomiting, Feeding difficulties in infancy, Abdominal distention OMIM:613070
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Congenital Arthrogryposis With Anterior Horn Cell Disease
Feeding difficulties, Respiratory insufficiency due to muscle weakness, Neonatal death, Respirato... OMIM:611890
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Primary Peritoneal Carcinoma
Nausea and vomiting, Constipation, Abdominal distention, Abdominal pain ORPHA:168829
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomega... OMIM:109270
Achondrogenesis, Type Ib
Abdominal distention, Stillbirth, Respiratory insufficiency OMIM:600972
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Poor appetite, Abdominal pain OMIM:616794
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure, Abdominal pain ORPHA:890
Hypoglossia With Situs Inversus
Malnutrition, Narrow mouth, Respiratory distress, Hypodontia, Upper airway obstruction, Microglos... OMIM:612776
Auriculocondylar Syndrome 2
Apnea, Narrow mouth, Dental crowding, Snoring, Mandibular condyle aplasia, Cleft palate, Glossopt... OMIM:614669
Kinsship Syndrome
Ankyloglossia, Short philtrum, Downturned corners of mouth, Gastroesophageal reflux, Death in inf... OMIM:619297
Permanent Congenital Hypothyroidism
Macroglossia, Feeding difficulties, Constipation, Jaundice, Abdominal distention ORPHA:226292
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Respiratory distress, Protuberant abdomen, Constipation, Prolonged neonatal jaundic... ORPHA:226313
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy, Feeding difficulties OMIM:618240
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Feeding difficulties, Dysphagia, Central hypoventilation, Respiratory failure OMIM:618233
Hereditary Acrokeratotic Poikiloderma
Open bite, Oral leukoplakia, Ankyloglossia, Narrow mouth, Abnormality of the dentition, Abnormal ... ORPHA:2907
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Tongue fasciculations, Respiratory failure OMIM:600561
Hartnup Disorder
Cutaneous photosensitivity, Glossitis OMIM:234500
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Normocytic anemia, Normochr... OMIM:235700
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Torticollis, Natal tooth, Cleft palate OMIM:217150
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
3-Methylglutaconic Aciduria, Type Viii
Apnea, Feeding difficulties, Death in infancy, Respiratory failure, Poor suck OMIM:617248
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Nasogastric tube feeding, Respiratory failure OMIM:619057
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate OMIM:137215
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, ... OMIM:616278
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Reduced forced vital capacity, Dyspnea, Late inspirator... ORPHA:2302
Plummer-Vinson Syndrome
Glossitis, Narrow mouth, Abdominal pain, Dysphagia, Intra-oral hyperpigmentation, Cheilitis, Geop... ORPHA:54028
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Abdominal distention OMIM:174050
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia, Long philtrum, Ankyloglossia, Dysphagia, Natal tooth, Tracheomala... ORPHA:2745
Intermediate Nemaline Myopathy
Dysphagia, Long philtrum, High, narrow palate, Respiratory failure ORPHA:171433
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Submucous cleft of soft and hard palate, Non-midline cleft lip ORPHA:1991
2Q24 Microdeletion Syndrome
Abnormal oral frenulum morphology, Short philtrum, Central apnea, Cleft palate ORPHA:1617
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Hyperuricemia, Reduced erythrocyte ... OMIM:232800
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Adducted Thumbs Syndrome
Dysphagia, Respiratory insufficiency, Cleft palate, High palate, High, narrow palate, Velopharyng... OMIM:201550
Enterocolitis
Hematochezia, Ulcerative colitis, Abdominal distention, Enterocolitis OMIM:226150
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Respiratory failure, Feeding difficulties OMIM:618291
Snakebite Envenomation
Pseudobulbar paralysis, Epistaxis, Erythema, Respiratory paralysis, Neuromuscular dysphagia, Ging... ORPHA:449285
Malignant Peritoneal Mesothelioma
Dyspnea, Abdominal distention, Ileus, Abdominal pain ORPHA:168811
Deafness-Craniofacial Syndrome
Short lingual frenulum OMIM:125230
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds OMIM:606824
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Neonatal hyperbi... OMIM:618892
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Dysphagia, Nausea, Respiratory insufficiency due to muscle weakness, Respiratory failure... ORPHA:352447
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Thick upper lip vermilion, Abnormality of the dentition, Thin upper lip vermilion... OMIM:226440
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Respiratory failure, Feeding difficulties, Respiratory insuffic... ORPHA:370968
Secondary Short Bowel Syndrome
Malnutrition, Polyphagia, Small intestinal dysmotility, Villous atrophy, Constipation, Aganglioni... ORPHA:95427
Facioscapulohumeral Muscular Dystrophy 1
Dysphagia, Retinal telangiectasia, Restrictive ventilatory defect, Tongue atrophy OMIM:158900
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Vomiting, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Autosomal Recessive Robinow Syndrome
Open bite, Long philtrum, Ankyloglossia, Short philtrum, Downturned corners of mouth, Abnormal pa... ORPHA:1507
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Hypoxemia, Neo... OMIM:610921
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Dysphagia, Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to ... ORPHA:2590
Ovarian Fibroma
Pleural effusion, Abdominal distention, Odontogenic keratocysts of the jaw, Abdominal pain ORPHA:314473
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Thyroid Hypoplasia
Jaundice, Macroglossia, Constipation, Abdominal distention ORPHA:95720
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Ankyloglossia, Carious teeth, Malnutrition, Gastrointestinal inflammation, Narrow mouth, Generali... ORPHA:79408
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Gastroesophageal re... ORPHA:2414
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Tachypnea, Hypoxemia, Cyanosis ORPHA:70587
Gaucher Disease, Type Ii
Apnea, Feeding difficulties, Protuberant abdomen, Dysphagia, Recurrent aspiration pneumonia OMIM:230900
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Meckel Syndrome, Type 8
Abdominal distention, Cleft upper lip, Cleft palate OMIM:613885
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Feeding difficulties, Death in infancy, Respiratory insufficiency, Neonatal respiratory distress,... OMIM:245400
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Reduced forced vital capacity, Respiratory distress, Bronchiectasis, In... OMIM:610913
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Tongue atrophy ORPHA:496689
Hyperekplexia 4
High palate, Respiratory failure OMIM:618011
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Smooth philtrum, Intestinal pseudo-obstruction, Congenital shortened smal... OMIM:300048
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Hypoadrenocorticism, Familial
Vomiting, Apnea, Cyanosis, Feeding difficulties in infancy OMIM:240200
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Porphyria Due To Ala Dehydratase Deficiency
Abdominal pain, Ventilator dependence with inability to wean, Constipation, Nausea, Respiratory i... ORPHA:100924
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastrointestinal dysmotility, Small intestinal dysmotility, Abdominal pain, Dysphagia, Nausea, Ga... ORPHA:298
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Spontaneous esophageal perforation, Abdominal pain, Gastroparesis, Abdominal disten... OMIM:277320
Arthrogryposis Multiplex Congenita 6
Neonatal death, Respiratory failure, Death in infancy, Death in childhood OMIM:619334
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Respiratory failure, High palate, ... ORPHA:98913
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Gait disturbance, Increased overbite... OMIM:618761
Qazi-Markouizos Syndrome
Drooling, Hypoplasia of teeth, Open mouth, Broad philtrum, Chronic constipation, High, narrow pal... ORPHA:3010
Recurrent Respiratory Papillomatosis
Choking episodes, Wheezing, Dyspnea, Respiratory distress, Dysphagia, Nonproductive cough, Respir... ORPHA:60032
Robinow Syndrome
Long philtrum, Ankyloglossia, Tooth malposition, Dental crowding, Marked delay in eruption of per... ORPHA:97360
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Respiratory failure, Feeding difficulties, Respiratory insufficiency OMIM:615330
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abdominal pain, Cough, Respiratory insufficiency, Abnormal patter... ORPHA:724
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Dyspnea, Cough, Pneumonia, Decreased DLCO, Hypoxemia, Cyanosis OMIM:610910
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Abdominal distention, Abdominal pain ORPHA:90003
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the mouth, Dyspnea, Abnormality of the philtrum, Respiratory distress, Aplasia/Hyp... ORPHA:2759
Burning Mouth Syndrome
Tongue pain, Parageusia, Xerostomia, Abnormality of the gingiva, Abnormality of taste sensation, ... ORPHA:353253
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hyperbilirubinemia, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Distal 22Q11.2 Microdeletion Syndrome
Ankyloglossia, Narrow mouth, Smooth philtrum, Thin upper lip vermilion, Bowel incontinence, Cleft... ORPHA:261330
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
Hutchinson-Gilford Progeria Syndrome
Ankyloglossia, Thin vermilion border, Delayed eruption of teeth, Impacted tooth, Narrow mouth, Ge... ORPHA:740
Congenital Myasthenic Syndrome
Respiratory arrest, Intermittent episodes of respiratory insufficiency due to muscle weakness, Ob... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Intermittent episodes of respiratory insufficiency due to muscle weakness, Ob... ORPHA:98914
Breath-Holding Spells
Cyanosis OMIM:607578
Acrocephalopolydactyly
Protuberant abdomen, Abnormality of the mouth ORPHA:221054
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Hypoxemia, Neonatal respiratory dis... ORPHA:2257
Gracile Bone Dysplasia
Ankyloglossia OMIM:602361
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Ankyloglossia, Feeding difficulties, Downturned corners of mouth, Cleft palate ORPHA:488642
Oculocerebrofacial Syndrome, Kaufman Type
Thin vermilion border, Short philtrum, Dyspnea, Respiratory distress, Feeding difficulties, Smoot... ORPHA:2707
Letterer-Siwe Disease
Jaundice, Abdominal distention, Dyspnea, Stomatitis OMIM:246400
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Agan... ORPHA:2919
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hyperbilirubinemia, Hypermethioninemia OMIM:614300
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis, Gastroesophageal reflux ORPHA:1949
Sepsis In Premature Infants
Gastrointestinal dysmotility, Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmona... ORPHA:90051
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Abdominal distention OMIM:277300
Auriculocondylar Syndrome 1
Apnea, Narrow mouth, Dental crowding, Snoring, Mandibular condyle aplasia, Cleft palate, Anterior... OMIM:602483
Cleft Lip/Palate
Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary lateral incisors, Abnormality of de... ORPHA:199306
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Chronic hemolytic anemia, Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Neuromyelitis Optica Spectrum Disorder
Nausea, Respiratory failure ORPHA:71211
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Vacterl Association With Hydrocephalus
Anal atresia, Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Congenital Disorder Of Glycosylation, Type Ih
Long philtrum, Protein-losing enteropathy, Decreased liver function, Diarrhea, Vomiting, Abdomina... OMIM:608104
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Abdominal distention, Protein-losing enteropathy ORPHA:103910
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Cleft palate OMIM:616898
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Neonatal respiratory distress, Decreased live... OMIM:310400
Wolman Disease
Malnutrition, Steatorrhea, Esophageal varix, Hepatic failure, Nausea and vomiting, Abdominal dist... ORPHA:75233
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Acquired Methemoglobinemia
Dyspnea, Respiratory distress, Abdominal pain, Hypoxemia, Vomiting, Cyanosis ORPHA:464453
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation, Dysphagia, Const... ORPHA:70
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Dysphagia, Respiratory failure, Neonatal respiratory distress OMIM:616867
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy, Anorexia OMIM:619386
Visceral Myopathy 1
Megaduodenum, Malnutrition, Abdominal pain, Dysphagia, Constipation, Aganglionic megacolon, Intes... OMIM:155310
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency OMIM:600333
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Nonproductive cough, Crackles, Hypoxemia, Decreased DL... ORPHA:79126
Chiari Malformation Type Ii
Dysphagia, Cyanosis, Inspiratory stridor, Feeding difficulties OMIM:207950
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, A... OMIM:259720
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Respiratory insufficiency, Glossoptosis, Feeding difficulties, Cleft palate OMIM:618356
Peritoneal Cystic Mesothelioma
Constipation, Abdominal distention, Abdominal pain ORPHA:168816
Relapsing Fever
Increased total bilirubin, Leukocytosis, Elevated circulating creatinine concentration, Thrombocy... ORPHA:91547
Combined Oxidative Phosphorylation Defect Type 23
Feeding difficulties in infancy, Respiratory failure, Paroxysmal dyspnea, Cyanosis, Stridor ORPHA:444013
Nephrotic Syndrome, Type 1
Neonatal respiratory distress, Pyloric stenosis, Abdominal distention, Gastroesophageal reflux OMIM:256300
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, Prematurely aged appearance, Tooth malposition, Everted lower lip vermilion, Furr... ORPHA:1387
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Respiratory failure, Feeding difficulties, Respiratory insufficiency OMIM:618329
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Respiratory failure, Neonatal respiratory distress ORPHA:168486
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Feeding difficulties, Respiratory ... ORPHA:137888
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Avian Influenza
Dyspnea, Respiratory distress, Abdominal pain, Pleural effusion, Cough, Nonproductive cough, Pneu... ORPHA:454836
1Q21.1 Microdeletion Syndrome
Ankyloglossia, High palate, Long philtrum ORPHA:250989
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Achondrogenesis, Type Ii
Abdominal distention, Stillbirth, Cleft palate OMIM:200610
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Achalasia ORPHA:2400
Poirier-Bienvenu Neurodevelopmental Syndrome
Protruding tongue, Downturned corners of mouth, Smooth philtrum, Open mouth OMIM:618732
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Achondrogenesis Type 1A
Long philtrum, Abdominal distention ORPHA:93299
Lipoid Proteinosis
Tongue nodules, Dysphagia, Microglossia, Abnormal oral mucosa morphology, Abnormality of the ging... ORPHA:530
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infectious pne... ORPHA:36238
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Accessory oral frenulum ORPHA:1373
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Hypermanganesemia With Dystonia 1
Polycythemia, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding ca... OMIM:613280
Pitt-Hopkins-Like Syndrome 2
Drooling, Feeding difficulties, Constipation, Gastroesophageal reflux, Wide mouth, Protruding ton... OMIM:614325
Congenital Hypothyroidism
Macroglossia, Constipation, Oral cleft, Prolonged neonatal jaundice, Abdominal distention, Sinusi... ORPHA:442
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Intestinal pseudo-obstruction, Abnormality of the gastric muc... ORPHA:1876
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Hypodontia, Solitary median maxillary central incisor, Abnormal ora... ORPHA:952
Orofaciodigital Syndrome Xviii
Short philtrum, Diastema, Cleft lip, Accessory oral frenulum OMIM:617927
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Respiratory insufficiency, Feeding difficulties, Tongue atrophy OMIM:614678
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Everted lower lip vermilion, Thick vermilion border, Furrowed tongue, Gingival overgrowth, Oral s... ORPHA:966
Myasthenic Syndrome, Congenital, 24, Presynaptic
Dysphagia, Apnea, Feeding difficulties, Respiratory insufficiency OMIM:618198
Mercury Poisoning
Dyspnea, Respiratory distress, Interstitial pneumonitis, Nausea, Anorexia, Episodic vomiting, Res... ORPHA:330021
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Dysphagia, Respiratory insufficiency, Tongue fasciculations, Strid... OMIM:211530
Congenital Lethal Erythroderma
Urticaria, Malabsorption, Death in infancy, Respiratory insufficiency ORPHA:1954
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Al Amyloidosis
Macroglossia, Obstructive sleep apnea, Dyspnea, Gastrointestinal hemorrhage, Dysphagia, Nonproduc... ORPHA:85443
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinusitis, Pneumonia, Respiratory insuff... OMIM:618695
Alternating Hemiplegia Of Childhood
Gastrointestinal dysmotility, Apnea, Respiratory distress, Downturned corners of mouth, Aspiratio... ORPHA:2131
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia ORPHA:178320
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Abdominal distention, Colonic atresia ORPHA:1198
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Splenomegaly OMIM:235555
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate OMIM:600251
Pancreatoblastoma
Abdominal pain, Jaundice, Diarrhea, Vomiting, Abdominal distention ORPHA:677
Carey-Fineman-Ziter Syndrome
Feeding difficulties, Pierre-Robin sequence, Dysphagia, Gastroesophageal reflux, Respiratory insu... OMIM:254940
Amyotrophic Lateral Sclerosis
Dyspnea, Abnormal respiratory system physiology, Xerostomia, Respiratory failure, Nausea and vomi... ORPHA:803
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyponatremia, Neutropenia, Hypoalbumin... ORPHA:1667
Primary Hepatic Neuroendocrine Carcinoma
Dyspnea, Bronchospasm, Nausea, Anorexia, Intermittent jaundice, Diarrhea, Facial telangiectasia, ... ORPHA:100085
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Gastrointestinal hemorrhage, Purpura, Urticaria, Abdominal pain, Erythema, Diarrhea... ORPHA:343
Atypical Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Tongue atrophy ORPHA:216873
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Respiratory insufficiency, Nau... ORPHA:26790
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy OMIM:141300
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Dyspnea, Cough, Crackles, Decreased DLCO, Hypoxemia, Cyanosis ORPHA:747
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Wide mouth, Bifid uvula, High palate, Microdontia, Widely spaced teeth, Accessory o... OMIM:266920
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Protuberant abdomen, Carious teeth, Widely spaced teeth, Respiratory distress OMIM:617102
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Glossoptosis, Cleft palate ORPHA:166100
Esophageal Atresia
Laryngotracheomalacia, Oral aversion, Intestinal malrotation, Vomiting, Cyanosis, Respiratory dis... ORPHA:1199
Peroxisome Biogenesis Disorder 4A (Zellweger)
Feeding difficulties in infancy, Respiratory failure, Death in infancy OMIM:614862
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Ventilator dependence with inability to wean, Constipation, Inspiratory stridor, Respiratory fail... OMIM:604320
Orofaciodigital Syndrome V
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft lip OMIM:174300
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Glucose-Galactose Malabsorption
Malnutrition, Hyperactive bowel sounds, Diarrhea, Vomiting, Abdominal distention ORPHA:35710
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Hypoxemia ORPHA:70578
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Urticaria, Dysphagia, Abdominal pain, Gastroesophageal reflux, Cough, Resp... ORPHA:183
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Smooth philtrum, Protein-losing enteropathy, Thin upper lip vermilion, Hepatic ... OMIM:235255
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Acute Intermittent Porphyria
Pseudobulbar paralysis, Abdominal pain, Constipation, Respiratory insufficiency, Respiratory para... ORPHA:79276
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Respiratory distress, Difficulty in tongue movements, Respiratory failure requiring... ORPHA:308552
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Rectovaginal fistula, Anal atresia, Abdominal distention, Secretory diarrhea OMIM:270420
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Deafness-Craniofacial Syndrome
Short philtrum, Abnormal palate morphology, Abnormality of the dentition, Short lingual frenulum,... ORPHA:3241
Congenital Tufting Enteropathy
Villous atrophy, Chronic diarrhea, Abnormal small intestinal mucosa morphology, Steatorrhea, Oral... ORPHA:92050
Criss-Cross Heart
Cyanosis, Feeding difficulties, Respiratory insufficiency ORPHA:1461
Thyroid Ectopia
Jaundice, Macroglossia, Constipation, Abdominal distention ORPHA:95712
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Hypoventilation, Open mouth, Dysphagia, Gastroesophageal reflux, Respiratory insuff... ORPHA:258
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pleural effusion, Nausea, Diarrhea, Respiratory failure, Vomiting, Tachypnea, Hypoxemia, Poor app... ORPHA:542323
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Orofaciodigital Syndrome Vi
Tongue nodules, Cleft upper lip, Cleft palate, High palate, Accessory oral frenulum OMIM:277170
Buerger Disease
Acrocyanosis ORPHA:36258
Boutonneuse Fever
Abdominal pain, Nausea, Petechiae, Respiratory failure, Diarrhea ORPHA:83313
Terminal Osseous Dysplasia
Abnormal oral frenulum morphology, Cleft palate OMIM:300244
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Short philtrum, Respiratory failure, Death in infancy, Wide mouth ORPHA:1194
Agnathia-Otocephaly Complex
Respiratory distress, Narrow mouth, Aglossia, Tracheomalacia, Microglossia, Cleft palate OMIM:202650
Gonadoblastoma
Abdominal distention, Abdominal pain ORPHA:206484
Double Outlet Right Ventricle
Narrow mouth, Feeding difficulties, Intestinal malrotation, Cleft palate, Tachypnea, Cyanosis, Su... ORPHA:3426
Sialuria
Long philtrum, Sleep apnea, Protuberant abdomen, Smooth philtrum, Thin upper lip vermilion, High ... OMIM:269921
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Abdominal distention ORPHA:369
Angelman Syndrome Due To A Point Mutation
Drooling, Feeding difficulties, Dysphagia, Wide mouth, Abnormal eating behavior, Protruding tongu... ORPHA:411511
Dystonia, Juvenile-Onset
Generalized dystonia, Cleft upper lip, Cleft palate OMIM:607371
Anterior Cutaneous Nerve Entrapment Syndrome
Abdominal pain, Nausea, Anorexia, Abdominal distention, Recurrent infection of the gastrointestin... ORPHA:51890
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Lymphatic Malformation 7
Abdominal distention, Respiratory distress OMIM:617300
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Long philtrum, Downturned corners of mouth, Feeding difficulties, Deep philtrum, Intestinal malro... ORPHA:404440
Ovarian Fibrothecoma
Pleural effusion, Abdominal distention, Abdominal pain ORPHA:314478
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thin vermilion border, Abdominal distention OMIM:602557
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Hypocholesterolemia, Splenomegaly OMIM:607765
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Achalasia OMIM:252320
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology, Diarrhea, Abdominal distention ORPHA:2290
Leigh Syndrome
Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration OMIM:256000
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia OMIM:214950
Bifid Nose With Or Without Anorectal And Renal Anomalies
Short lingual frenulum, Short philtrum, Rectovaginal fistula, Anteriorly placed anus OMIM:608980
Hereditary Fructose Intolerance
Abdominal pain, Constipation, Nausea, Chronic hepatic failure, Jaundice, Diarrhea, Vomiting, Abdo... ORPHA:469
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain ORPHA:83469
Spinocerebellar Ataxia Type 1
Dysphagia, Respiratory failure ORPHA:98755
Congenital Muscular Dystrophy, Ullrich Type
Abnormal palate morphology, Respiratory failure ORPHA:75840
Chylomicron Retention Disease
Steatorrhea, Diarrhea, Vomiting, Fat malabsorption, Abdominal distention ORPHA:71
Whistling Face Syndrome, Recessive Form
Long philtrum, Narrow mouth, Microglossia, High palate, Whistling appearance OMIM:277720
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hyperbilirubinemia, Hypoalbuminemia, Splenomegaly OMIM:251880
Cronkhite-Canada Syndrome
Abdominal pain, Anorexia, Furrowed tongue, Stomach cancer, Intestinal polyposis, Diarrhea, Hamart... ORPHA:2930
Pai Syndrome
Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Cleft palate ORPHA:1993
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia, Tented upper lip vermilion, Atelectasis ORPHA:896
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Dyspnea, Cardiorespiratory arrest, Feeding difficulties, Dysphagi... ORPHA:26791
Congenital Fibrinogen Deficiency
Abdominal pain, Volvulus, Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility, Gingival bl... ORPHA:335
Mirizzi Syndrome
Abdominal pain, Abdominal colic, Nausea, Anorexia, Jaundice, Vomiting, Abdominal distention ORPHA:521219
Pulmonary Arteriovenous Malformation
Dyspnea, Gastrointestinal infarctions, Cough, Hemothorax, Epistaxis, Pleural empyema, Pulmonary a... ORPHA:2038
Botulism
Abdominal pain, Dysphagia, Constipation, Respiratory insufficiency, Xerostomia, Diarrhea, Nausea ... ORPHA:1267
Faciocardiomelic Dysplasia, Lethal
Neonatal death, Microglossia, Narrow mouth OMIM:227270
X-Linked Acrogigantism
Sleep apnea, Polyphagia, Diastema, Snoring, Abdominal distention ORPHA:300373
Pediatric Systemic Lupus Erythematosus
Dyspnea, Abdominal pain, Oral ulcer, Pleural effusion, Diarrhea, Vomiting, Abdominal distention ORPHA:93552
Hereditary Methemoglobinemia
Cyanosis, Lip discoloration, Exertional dyspnea ORPHA:621
Scedosporiosis
Decreased pulmonary function, Cough, Bronchial breath sound, Pneumonia, Pleural empyema, Respirat... ORPHA:449280
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Malabsorption, Abdominal distention, Poor appetite OMIM:227810
Lead Poisoning
Delayed eruption of teeth, Abdominal cramps, Abdominal pain, Constipation, Nausea, Decreased pulm... ORPHA:330015
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Acquired Hypertrichosis Lanuginosa
Macroglossia, Chronic diarrhea, Glossitis, Poor appetite ORPHA:2221
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Cleft palate, High palate, Recurrent aspiration pneumonia, Median c... OMIM:258865
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Widely spaced teeth, Respiratory insufficiency OMIM:135100
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Feeding difficulties, Dysphagia, Wide mouth, Protruding tongue, Poor suck, Widely spaced teeth ORPHA:98795
Bnar Syndrome
Short lingual frenulum, Anteriorly placed anus, Anal stenosis ORPHA:217266
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Chronic diarrhea OMIM:602473
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Diarrhea ORPHA:51188
Lysosomal Acid Lipase Deficiency
Protuberant abdomen, Death in infancy, Acute hepatic failure, Esophageal varix, Steatorrhea, Pulm... OMIM:278000
Niemann-Pick Disease, Type C2
Prolonged neonatal jaundice, Dysphagia, Respiratory failure, Respiratory insufficiency OMIM:607625
Malignant Atrophic Papulosis
Intestinal perforation, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions... ORPHA:679
Necrotizing Enterocolitis
Apnea, Diarrhea, Vomiting, Abdominal distention, Bloody diarrhea ORPHA:391673
Congenital Fiber-Type Disproportion Myopathy
Poor appetite, Feeding difficulties, Dental crowding, Hypercapnia, Dysphagia, Nasogastric tube fe... ORPHA:2020
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Long philtrum, Open mouth, Protuberant abdomen, Wide mouth, Lactose intolerance, Asthma, Intestin... ORPHA:457485
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Cleft palate ORPHA:2521
Congenital Multicore Myopathy With External Ophthalmoplegia
Feeding difficulties, Abnormal respiratory system physiology, Pneumonia, Tented upper lip vermili... ORPHA:98905
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Constipation, Gastroesophageal reflux, Decreased sensitivity to hypoxemia, Diarrhea... OMIM:223900
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia OMIM:241310
Gallbladder Neuroendocrine Tumor
Nausea, Anorexia, Intermittent jaundice, Abdominal distention, Episodic abdominal pain ORPHA:100086
Donohue Syndrome
Thick lower lip vermilion, Abdominal distention, Wide mouth, Gingival overgrowth OMIM:246200
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Tricuspid Atresia
Cyanosis ORPHA:1209
Idiopathic Hypereosinophilic Syndrome
Dyspnea, Respiratory distress, Abdominal pain, Dysphagia, Vasculitis in the skin, Chronic diarrhe... ORPHA:3260
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Respiratory failure, Bruising susceptibility ORPHA:3226
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Respiratory insufficiency OMIM:245650
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Pulmonary Capillary Hemangiomatosis
Dyspnea, Elevated pulmonary artery pressure, Exertional dyspnea, Pleural effusion, Hemothorax, Hy... ORPHA:199241
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis, Hepatic failure OMIM:261680
Mesomelia-Synostoses Syndrome
Long philtrum, Narrow mouth, Aplasia/Hypoplasia of the uvula, Abnormal oral frenulum morphology, ... ORPHA:2496
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Death in infancy, Intestinal malrotation, Hypoperistalsis, Microcolon, Nausea and vomiting, Abdom... ORPHA:2241
Castleman Disease
Dyspnea, Abdominal pain, Cough, Jaundice, Nausea and vomiting, Intestinal obstruction, Abdominal ... ORPHA:160
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Feeding difficulties, Respiratory insuffici... OMIM:613845
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Cleft palate ORPHA:85166
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Hsd10 Disease, Infantile Type
Dysphagia, Cyanosis, Gastrointestinal dysmotility ORPHA:391428
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia OMIM:606812
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Trisomy 8Q
Everted lower lip vermilion, Non-midline cleft lip, Oral cleft, Bifid tongue, Cleft palate, Abnor... ORPHA:1752
Orofaciodigital Syndrome Iv
Tongue nodules, Hamartoma of tongue, Lobulated tongue, Cleft palate, High palate, Accessory oral ... OMIM:258860
Acrodermatitis Enteropathica
Abnormality of the tongue, Glossitis, Generalized abnormality of skin, Chronic diarrhea, Cheiliti... ORPHA:37
Ovarian Hyperstimulation Syndrome
Abdominal pain, Pleural effusion, Nausea, Nausea and vomiting, Abdominal distention ORPHA:64739
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Cystic Echinococcosis
Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Eosinophilia ORPHA:400
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Distal Xq28 Microduplication Syndrome
Open mouth, Dental crowding, Epistaxis, Short lingual frenulum, Asthma, High palate, Thick lower ... ORPHA:293939
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Feeding difficulties, Dysphagia, Respiratory failure requiring assisted ventilation, Bowel incont... ORPHA:496641
Cardioacrofacial Dysplasia 1
Conical tooth, Short philtrum, Diastema, Accessory oral frenulum OMIM:619142
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Obstructive sleep apnea, Stridor, Respiratory failure OMIM:606071
Arnold-Chiari Malformation Type Ii
Apnea, Feeding difficulties, Dysphagia, Inspiratory stridor, Pneumonia, Cyanosis ORPHA:1136
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Drooling, Feeding difficulties, Dysphagia, Constipation, Wide mouth, Abnormal eating behavior, Pr... ORPHA:98794
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Feeding difficulties in infancy, Cyanotic episode, Nasogastric tube feeding, Gastrostomy tube fee... ORPHA:284417
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft soft palate, Bifid uvula, Cleft palate ORPHA:2736
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Abdominal pain, Hematochezia, Protein-losing enteropathy, Anorexia, Xerostomia, Diarrh... OMIM:175500
Poliomyelitis
Paralytic ileus, Dysphagia, Nausea, Respiratory failure requiring assisted ventilation, Anorexia,... ORPHA:2912
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Bronchiectasis, Pneumonia, Protruding tongue, Diarrhea, Sinusitis, Malabsorption OMIM:242860
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Respiratory failure, Respiratory distress OMIM:617895
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Abdominal pain, Orthopnea, Crackles, Respiratory failure, Asthma, Pa... ORPHA:563
Pallister-Hall-Like Syndrome
Microglossia, Death in infancy, Median cleft lip, Cleft palate OMIM:241800
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gastrostomy tube feeding in infancy, Wide mouth, Tracheomalacia, Protruding tongue, Neonatal resp... OMIM:618797
Orofaciodigital Syndrome Type 6
Apnea, Midline notch of upper alveolar ridge, Tongue nodules, Episodic tachypnea, Hamartoma of to... ORPHA:2754
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea, Hypoxemia, Cy... ORPHA:555874
Brain-Lung-Thyroid Syndrome
Abnormal drinking behavior, Respiratory distress, Hypodontia, Abnormal eating behavior, Neonatal ... ORPHA:209905
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Narrow palate, Tented upper lip vermilion OMIM:616505
Caroli Syndrome
Leukocytosis, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Thrombocytopenia, Hypersplenism,... ORPHA:480520
Glycogen Storage Disease Due To Acid Maltase Deficiency
Macroglossia, Sleep apnea, Respiratory distress, Difficulty in tongue movements, Exertional dyspn... ORPHA:365
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Abdominal pain, Stomatitis, Steatorrhea, Diarrhea, Vomiting, Recurrent aphthou... OMIM:212750