Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
AE binding protein 2
Synonyms:
B230313N05Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Aebp2 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 Aebp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, Aganglionic megacolon, White eyel... OMIM:613265
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Abdominal colic, Diarrhea, Abdominal distention ORPHA:35122
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigmented skin patches, Hype... ORPHA:241
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Piebald Trait
Heterochromia iridis, Aganglionic megacolon, Partial albinism, White forelock, Absent pigmentatio... OMIM:172800
Abcd Syndrome
Abnormal auditory evoked potentials, Albinism, Aganglionic megacolon OMIM:600501
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia iridis, Aganglionic megacolo... ORPHA:2885
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, Aganglionic megacolon,... ORPHA:895
Volvulus Of Midgut
Constipation, Intestinal malrotation, Volvulus, Abdominal distention, Neonatal intestinal obstruc... OMIM:193250
Hirschsprung Disease
Abdominal pain, Constipation, Aganglionic megacolon, Functional abnormality of the gastrointestin... ORPHA:388
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, Aganglionic megacolon, White eyel... OMIM:277580
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyebrow, Premature graying o... ORPHA:897
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Colonic Atresia
Abdominal distention, Colonic atresia OMIM:303650
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Congenital Pancreatic Cyst
Vomiting, Anorexia, Abdominal distention, Abdominal pain ORPHA:313906
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Atresia Of Small Intestine
Feeding difficulties, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Vomiting, A... ORPHA:1201
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Chronic atrophic gastritis, Colorectal polyposis, Dia... ORPHA:160148
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Malnutrition, Abdominal pain, Constipation, Abdominal distention, Malabsorption, Gastrointestinal... OMIM:613662
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Primary Peritoneal Carcinoma
Peritonitis, Abdominal pain, Constipation, Nausea and vomiting, Abdominal distention ORPHA:168829
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Constipation, Villous atrophy, Aganglionic megacolon,... ORPHA:95427
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Visceral Myopathy 1
Megaduodenum, Malnutrition, Abdominal pain, Dysphagia, Constipation, Aganglionic megacolon, Intes... OMIM:155310
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Waardenburg Syndrome, Type 3
Heterochromia iridis, Premature graying of hair, Aganglionic megacolon, Hypopigmented skin patche... OMIM:148820
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Tremor, Premature graying of hair, Generalized hyperpigmentation, Optic... ORPHA:33445
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Deafness-Vitiligo-Achalasia Syndrome
Achalasia, Hypopigmented skin patches ORPHA:3239
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Visceral Myopathy, Familial, With External Ophthalmoplegia
Malnutrition, Spontaneous esophageal perforation, Abdominal pain, Gastroparesis, Abdominal disten... OMIM:277320
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Aganglionic megacolon, White eyela... ORPHA:2884
Glucose/Galactose Malabsorption
Malabsorption, Chronic diarrhea, Abdominal distention, Hyperactive bowel sounds OMIM:606824
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Athyreosis
Macroglossia, Constipation, Abdominal distention, Feeding difficulties ORPHA:95713
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Heterochromia iridis, Premature grayi... ORPHA:3440
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Anal atresia, Aganglionic megacolon OMIM:235760
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Gastroesophageal reflux, Feeding difficulties in inf... ORPHA:2924
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Constipation, Aganglionic megacolon OMIM:613603
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Generalized hypopigmentation, Blue irides OMIM:103500
Thyroid Hemiagenesis
Macroglossia, Constipation, Abdominal distention ORPHA:95719
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Ret... ORPHA:79397
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Hypopigmentation of the skin OMIM:617294
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
American Trypanosomiasis
Abdominal pain, Aganglionic megacolon, Achalasia, Diarrhea, Abnormal large intestine physiology ORPHA:3386
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, White h... ORPHA:894
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Hypomelanotic macule, Spo... ORPHA:79399
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo, Achalasia OMIM:221350
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Nausea, Neoplasm of the liver, Vomiting, Abdominal distention ORPHA:90003
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Mottled pigmentation, Protuberant abdomen, Constipation, Feeding difficulties in in... ORPHA:226313
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Visceral Myopathy 2
Megaduodenum, Esophagitis, Hiatus hernia, Dysphagia, Gastroesophageal reflux, Ineffective esophag... OMIM:619350
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:89838
Liver Failure, Infantile, Transient
Vomiting, Feeding difficulties in infancy, Acute hepatic failure, Abdominal distention OMIM:613070
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Diarrhea, Abdominal distention, Hematochezia ORPHA:103910
Malignant Peritoneal Mesothelioma
Peritonitis, Abdominal distention, Ileus, Abdominal pain ORPHA:168811
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Intestinal pseudo-obstruction, Congenital shortened small intestine, Vomi... OMIM:300048
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon OMIM:304100
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Waardenburg Syndrome, Type 4C
Heterochromia iridis, Premature graying of hair, White eyebrow, Aganglionic megacolon, White eyel... OMIM:613266
Cutaneous Mastocytoma
Abnormality of skin pigmentation, Hypermelanotic macule, Abdominal pain ORPHA:79455
Orofaciodigital Syndrome V
Bifid uvula, Aganglionic megacolon, Lobulated tongue, Cleft palate OMIM:174300
Peritoneal Cystic Mesothelioma
Peritonitis, Constipation, Abdominal distention, Abdominal pain ORPHA:168816
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastrointestinal dysmotility, Decreased motor nerve conduction velocity, Decreased sensory nerve ... ORPHA:298
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin OMIM:618541
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Feeding difficulties in infancy, Hypopigmentation of the skin, Hypopigment... ORPHA:177910
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, Abdominal pain, Consti... ORPHA:163746
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Dysphagia, Gastroesophageal reflux, Hypopigmented skin patches,... ORPHA:220402
Cirrhosis, Familial
Abdominal distention, Esophageal varix OMIM:215600
Anterior Cutaneous Nerve Entrapment Syndrome
Abdominal pain, Nausea, Anorexia, Allodynia, Abdominal distention, Recurrent infection of the gas... ORPHA:51890
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Puerto Rican Infant Hypotonia Syndrome
Narrow palate, Constipation, Chronic constipation, High palate, Abdominal distention OMIM:600096
Distal 16P11.2 Microdeletion Syndrome
Chronic constipation, Aganglionic megacolon ORPHA:261222
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Hypermelanotic macule ORPHA:69125
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation OMIM:113750
Wolman Disease
Malnutrition, Steatorrhea, Esophageal varix, Hepatic failure, Nausea and vomiting, Abdominal dist... ORPHA:75233
Primary Effusion Lymphoma
Abdominal distention, Abdominal pain ORPHA:48686
X-Linked Creatine Transporter Deficiency
Constipation, Aganglionic megacolon, Ileus ORPHA:52503
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White ... OMIM:193510
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation OMIM:188150
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Permanent Congenital Hypothyroidism
Macroglossia, Constipation, Abdominal distention, Feeding difficulties ORPHA:226292
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Rectovaginal fistula, Anal atresia, Abdominal distention, Secretory diarrhea OMIM:270420
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Abdominal distention, Feeding difficulties OMIM:618528
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90342
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
High palate, Optic atrophy, Generalized hypopigmentation OMIM:615075
L1 Syndrome
Nausea and vomiting, Aganglionic megacolon ORPHA:275543
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock OMIM:601706
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Decreased liver function, Diarrhea, Vomiting, Abdominal distention OMIM:608104
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Cerebral Creatine Deficiency Syndrome 1
Constipation, Aganglionic megacolon, Ileus, Vomiting, Feeding difficulties in infancy OMIM:300352
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology, Diarrhea, Abdominal distention ORPHA:2290
Haddad Syndrome
Gastroesophageal reflux, Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Congenital Tufting Enteropathy
Optic disc coloboma, Villous atrophy, Chronic diarrhea, Abnormal small intestinal mucosa morpholo... ORPHA:92050
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Feeding difficulties in infancy, Hypopigmentation of the skin, Hypopigment... ORPHA:411515
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Hyperpigmentation of the skin, Generalized hypopigmentation, Generalize... ORPHA:158681
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Feeding difficulties, Dysphagia, Protruding tong... ORPHA:98795
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Abdominal distention, Colonic atresia ORPHA:1198
Oculocerebral Hypopigmentation Syndrome Of Preus
High palate, High, narrow palate, Generalized hypopigmentation OMIM:257790
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
X-Linked Lissencephaly With Abnormal Genitalia
Malabsorption, Aganglionic megacolon, Exocrine pancreatic insufficiency ORPHA:452
Hyperphosphatasia With Mental Retardation Syndrome 1
Feeding difficulties, Constipation, Abnormal rectum morphology, Aganglionic megacolon, Cleft pala... OMIM:239300
Idiopathic Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90158
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Chylomicron Retention Disease
Steatorrhea, Diarrhea, Vomiting, Fat malabsorption, Abdominal distention ORPHA:71
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Microcolon, N... ORPHA:2241
Ring Chromosome 10 Syndrome
Aganglionic megacolon ORPHA:1438
Classic Phenylketonuria
Nausea and vomiting, Hypopigmentation of hair, Tremor, Hypopigmentation of the skin ORPHA:79254
Glucose-Galactose Malabsorption
Malnutrition, Hyperactive bowel sounds, Diarrhea, Vomiting, Abdominal distention ORPHA:35710
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Heterochromia iridis, White eyebrow, Decreased nerve conduction velocity, Long-segment aganglioni... OMIM:609136
Ovarian Fibroma
Peritonitis, Abdominal distention, Abdominal pain ORPHA:314473
Ondine Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661
Joubert Syndrome With Renal Defect
Tremor, Aganglionic megacolon, Feeding difficulties, Cleft palate ORPHA:220497
Down Syndrome
Macroglossia, Brushfield spots, Aganglionic megacolon, Protruding tongue, Anal atresia, Duodenal ... OMIM:190685
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate ORPHA:85284
Porphyria Due To Ala Dehydratase Deficiency
Abdominal pain, Constipation, Nausea, Episodic vomiting, Diarrhea, Abdominal distention ORPHA:100924
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Partial albinism, Premature graying of hair ORPHA:79476
Central Hypoventilation Syndrome, Congenital, 1
Constipation, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Feeding diffic... OMIM:209880
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention OMIM:174050
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain ORPHA:83469
Meckel Syndrome, Type 8
Abdominal distention, Cleft palate OMIM:613885
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Tremor, Feeding difficulties, Dysphagia, Constip... ORPHA:98794
Joubert Syndrome
Aganglionic megacolon, Feeding difficulties in infancy, Tremor ORPHA:475
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Cleft palate ORPHA:66629
Multiple Endocrine Neoplasia, Type Iib
Constipation, Aganglionic megacolon, Diarrhea, Colonic diverticula, High palate, High, narrow palate OMIM:162300
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Macroglossia, Constipation, Gastroesophageal reflux, Aganglionic megacolon, Volvulus, Nausea and ... ORPHA:847
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Harrod Syndrome
Malrotation of small bowel, Aganglionic megacolon, High palate, High, narrow palate, Pyloric sten... OMIM:601095
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Generalized hypopigmentation ORPHA:1816
Joubert Syndrome With Ocular Defect
Tremor, Aganglionic megacolon, Feeding difficulties, Cleft palate ORPHA:220493
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Feeding difficulties, Dysphagia, Protruding tong... ORPHA:411511
Angelman Syndrome
Macroglossia, Constipation, Fair hair, Limb tremor, Protruding tongue, Feeding difficulties in in... OMIM:105830
Nephrotic Syndrome, Type 1
Pyloric stenosis, Gastroesophageal reflux, Abdominal distention OMIM:256300
Qazi-Markouizos Syndrome
High, narrow palate, Chronic constipation, Abdominal distention ORPHA:3010
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Ocular albinism, Hypopigmentation of the skin OMIM:601220
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Familial Visceral Myopathy
Aganglionic megacolon, Abdominal distention, Cleft palate ORPHA:2604
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Feeding difficulties ORPHA:261304
Thyroid Hypoplasia
Macroglossia, Constipation, Abdominal distention ORPHA:95720
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Dysphagia, Constipation, Hyperpigmentation of the skin, Intestinal... OMIM:606764
Cartilage-Hair Hypoplasia
Malabsorption, Aganglionic megacolon, Esophageal atresia, Fair hair OMIM:250250
Pitt-Hopkins Syndrome
Esophagitis, Hiatus hernia, Feeding difficulties, Constipation, Gastroesophageal reflux, Aganglio... ORPHA:2896
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatocellular carcinoma, Abdominal distention ORPHA:369
Maternal Uniparental Disomy Of Chromosome X
Hypopigmentation of the skin, Hepatic failure ORPHA:261519
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Anal atresia, Septo-optic dysplasia, Tracheoesophageal... ORPHA:59315
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Acrocephalopolydactyly
Protuberant abdomen ORPHA:221054
Hermansky-Pudlak Syndrome 9
Ocular albinism, Hypopigmentation of the skin OMIM:614171
Mungan Syndrome
Megaduodenum, Intestinal pseudo-obstruction, Hypoperistalsis, Abnormality of the autonomic nervou... OMIM:611376
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Gaucher Disease, Type Ii
Protuberant abdomen, Dysphagia, Feeding difficulties OMIM:230900
Toriello-Lacassie-Droste Syndrome
Generalized hyperpigmentation, Aganglionic megacolon, Feeding difficulties ORPHA:3339
Ramos-Arroyo Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Xerostomia, Chronic constipa... ORPHA:1051
Fryns Syndrome
Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacolon, Ectopic anus, Duodenal at... ORPHA:2059
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2251
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Porphyria Variegata
Abdominal pain, Constipation, Nausea, Hepatocellular carcinoma, Abnormal autonomic nervous system... ORPHA:79473
Infantile Sialic Acid Storage Disease
High palate, Hypopigmentation of the skin, Fair hair OMIM:269920
Phenylketonuria
Generalized hypopigmentation, Blue irides, Fair hair OMIM:261600
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Achondrogenesis, Type Ib
Abdominal distention OMIM:600972
Angelman Syndrome
Iris hypopigmentation, Tremor, Nasogastric tube feeding, Feeding difficulties, Dysphagia, Constip... ORPHA:72
Motor Neuropathy, Peripheral, With Dysautonomia
Abnormal autonomic nervous system physiology, Achalasia, Orthostatic hypotension, Decreased nerve... OMIM:252320
Hyperphosphatasia With Mental Retardation Syndrome 2
Cleft palate, Anal atresia, Aganglionic megacolon, Anal stenosis OMIM:614749
Achondrogenesis Type 1A
Abdominal distention ORPHA:93299
Ovarian Fibrothecoma
Peritonitis, Abdominal distention, Abdominal pain ORPHA:314478
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Protuberant abdomen, Hypopigmented skin patches, Lactose intolerance, Cafe-au-lait spot, Intestin... ORPHA:457485
Hyperphosphatasia-Intellectual Disability Syndrome
Gastrostomy tube feeding in infancy, Aganglionic megacolon, Bifid uvula, High palate, Anteriorly ... ORPHA:247262
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention OMIM:277300
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Malnutrition, Intestinal perforation, Abdominal pain, Constipation, Vomiting, Gastroparesis, Mala... OMIM:603041
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... ORPHA:79431
Congenital Hypothyroidism
Macroglossia, Constipation, Optic atrophy, Feeding difficulties in infancy, Tracheoesophageal fis... ORPHA:442
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Constipation, Aganglionic megacolon, Neoplasm of the liver, Diarrhea,... ORPHA:653
Pancreatoblastoma
Vomiting, Diarrhea, Abdominal distention, Abdominal pain ORPHA:677
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Anal atresia, Volvulus, Duodenal stenosis, Tracheo... ORPHA:210122
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... ORPHA:352731
Acute Intermittent Porphyria
Pseudobulbar paralysis, Tremor, Abdominal pain, Constipation, Hepatocellular carcinoma, Diarrhea,... ORPHA:79276
Menkes Disease
Hypopigmentation of the skin OMIM:309400
Gonadoblastoma
Abdominal distention, Abdominal pain ORPHA:206484
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Partial albinism, Nau... ORPHA:79477
Sea-Blue Histiocytosis
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:158029
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Focal Facial Dermal Dysplasia Type I
Spotty hypopigmentation, Spotty hyperpigmentation ORPHA:79133
Down Syndrome
Macroglossia, Narrow palate, Aganglionic megacolon, Protruding tongue, Anal atresia ORPHA:870
Vici Syndrome
Abnormality of retinal pigmentation, Feeding difficulties, High palate, Feeding difficulties in i... ORPHA:1493
Primary Biliary Cholangitis
Gastrointestinal inflammation, Orthostatic hypotension, Hepatocellular carcinoma, Hyperpigmentati... ORPHA:186
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Aganglionic megacolon, Malabsorption ORPHA:935
Triple A Syndrome
Generalized hyperpigmentation, Optic atrophy, Achalasia ORPHA:869
Necrotizing Enterocolitis
Peritonitis, Diarrhea, Vomiting, Abdominal distention, Bloody diarrhea ORPHA:391673
Hereditary Fructose Intolerance
Abdominal pain, Constipation, Nausea, Chronic hepatic failure, Diarrhea, Vomiting, Abdominal dist... ORPHA:469
Microgastria-Limb Reduction Defects Association
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacolon OMIM:156810
Al Amyloidosis
Macroglossia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Dy... ORPHA:85443
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Nausea, Anorexia, Abdominal distention, Episodic abdominal pain ORPHA:100086
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon ORPHA:2318
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Gastrointestinal hemorrhage, Abdominal pain, Mel... ORPHA:79430
Donohue Syndrome
Hypermelanotic macule, Abdominal distention OMIM:246200
Lead Poisoning
Abdominal cramps, Abdominal pain, Constipation, Nausea, Anorexia, Vomiting, Abnormality of the au... ORPHA:330015
Orofaciodigital Syndrome Type 5
Aganglionic megacolon, Bifid tongue, Bifid uvula, Cleft soft palate, High, narrow palate ORPHA:2919
Moyamoya Disease 6 With Or Without Achalasia
Dysphagia, Achalasia OMIM:615750
Celiac Disease, Susceptibility To, 1
Abdominal pain, Stomatitis, Steatorrhea, Diarrhea, Vomiting, Recurrent aphthous stomatitis, Celia... OMIM:212750
Primary Hepatic Neuroendocrine Carcinoma
Nausea, Neoplasm of the liver, Anorexia, Diarrhea, Abdominal distention, Episodic abdominal pain ORPHA:100085
Alternating Hemiplegia Of Childhood
Gastrointestinal dysmotility, Tremor, Dysphagia, Constipation, Abnormality of the gastrointestina... ORPHA:2131
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Cleft palate OMIM:308205
Vogt-Koyanagi-Harada Disease
Vitiligo, Poliosis, Premature graying of hair, Hypopigmented skin patches ORPHA:3437
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin OMIM:601957
Metachromatic Leukodystrophy, Adult Form
Orthostatic hypotension due to autonomic dysfunction, Neoplasm of the gallbladder, Intention trem... ORPHA:309271
Mirizzi Syndrome
Abdominal pain, Abdominal colic, Nausea, Anorexia, Vomiting, Abdominal distention ORPHA:521219
Fanconi Anemia
Abnormality of skin pigmentation, Meckel diverticulum, Irregular hyperpigmentation, Aplasia/Hypop... ORPHA:84
Lysosomal Acid Lipase Deficiency
Protuberant abdomen, Acute hepatic failure, Steatorrhea, Esophageal varix, Diarrhea, Hepatic fail... OMIM:278000
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches ORPHA:1825
Schimke Immuno-Osseous Dysplasia
Abnormal intestine morphology, Hypermelanotic macule, Abdominal distention, Multiple lentigines ORPHA:1830
Pediatric Systemic Lupus Erythematosus
Abdominal pain, Abnormality of the gastrointestinal tract, Diarrhea, Vomiting, Abdominal distention ORPHA:93552
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Nausea, Abdominal distention, Abdominal pain ORPHA:64739
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Abdominal pain, Steatorrhea, Colitis, Diarrhea, Abdominal dist... ORPHA:309031
Diarrhea 1, Secretory Chloride, Congenital
Diarrhea, Abdominal distention OMIM:214700
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention OMIM:602557
Fanconi-Bickel Syndrome
Malabsorption, Abdominal distention, Poor appetite OMIM:227810
Sepsis In Premature Infants
Gastrointestinal dysmotility, Functional abnormality of the gastrointestinal tract, Decreased liv... ORPHA:90051
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Constipation, Gastroesophageal reflux, Intestinal malrotation, Agang... ORPHA:567
Slc35A2-Cdg
Gastroesophageal reflux, Nasogastric tube feeding, Hypopigmentation of the skin, Feeding difficul... ORPHA:356961
Bardet-Biedl Syndrome 1
High palate, High, narrow palate, Aganglionic megacolon OMIM:209900
Classic Mycosis Fungoides
Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2584
Duane-Radial Ray Syndrome
Anal atresia, Aganglionic megacolon, Facial palsy, Anal stenosis OMIM:607323
Achalasia-Microcephaly Syndrome
Achalasia ORPHA:929
Multiple Endocrine Neoplasia, Type Iia
Aganglionic megacolon OMIM:171400
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Achalasia, Abnormal autonomic nervous system physiology, Hyperpigmentati... OMIM:231550
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Cleft palate ORPHA:85166
Focal Facial Dermal Dysplasia Type Iii
Anal atresia, Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:1807
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Hy... ORPHA:999
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Hypopigmented skin patches ORPHA:2875
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Hypopigmented skin patches ORPHA:330064
Chediak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Tremor, Giant melanosomes in melanocytes, Silver... OMIM:214500
Combined Immunodeficiency-Enteropathy Spectrum
Gastrointestinal atresia, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Intesti... ORPHA:436252
Autoimmune Polyendocrinopathy Type 2
Celiac disease, Hypopigmented skin patches ORPHA:3143
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Hyperpigmentation of the skin, Multip... ORPHA:3214
Smith-Lemli-Opitz Syndrome
Constipation, Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacolon, Microglossi... OMIM:270400
Lichen Planus Pemphigoides
Hypopigmented streaks ORPHA:254478
Letterer-Siwe Disease
Abdominal distention, Stomatitis OMIM:246400
Currarino Syndrome
Gastrointestinal obstruction, Anal stenosis, Rectovaginal fistula, Chronic constipation, Anal atr... OMIM:176450
Niemann-Pick Disease, Type A
Vomiting, Constipation, Protuberant abdomen, Feeding difficulties in infancy OMIM:257200
Achondrogenesis, Type Ii
Abdominal distention, Cleft palate OMIM:200610
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Melanocytic nevus, Anorexia, Multiple cafe-au-lait spots, Sh... ORPHA:1969
Lysosomal Acid Lipase Deficiency
Fatal liver failure in infancy, Malnutrition, Nausea and vomiting, Feeding difficulties, Abdomina... ORPHA:275761
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Gastroesophageal reflux, Aganglionic megacolon, Microglossia, Bifid ton... ORPHA:818
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Cleft palate, High palate, Abdominal distention OMIM:235255
Immunodeficiency 70
Celiac disease, Achalasia, Colitis OMIM:618969
Thyroid Ectopia
Macroglossia, Constipation, Abdominal distention ORPHA:95712
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Abdominal distention, Intention tremor ORPHA:309263
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Malabsorption, Aganglionic megacolon ORPHA:175
Goldberg-Shprintzen Syndrome
Aganglionic megacolon OMIM:609460
Lichen Planopilaris
Abnormal intestine morphology, Hypopigmented skin patches ORPHA:525
Muenke Syndrome
Hypopigmentation of hair, High, narrow palate, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, Adenomatous colonic polyposis, Multiple cafe-au-lait spots, Adenocar... OMIM:276300
Lymphatic Malformation 7
Abdominal distention OMIM:617300
X-Linked Agammaglobulinemia
Chronic diarrhea, Glossoptosis, Malabsorption, Hypopigmented skin patches ORPHA:47
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Nasogastric tube feeding, Feeding difficulties, Gastroesophageal reflux... ORPHA:398069
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Ectopic anus, Anal atresia, Cleft palate, High palate ORPHA:2473
Crouzon Disease
Melanocytic nevus, Optic atrophy, Narrow palate, Hypopigmented skin patches ORPHA:207
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches ORPHA:626
Fibrochondrogenesis 2
Protuberant abdomen OMIM:614524
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Protuberant abdomen, Cleft palate OMIM:184250
Dystonia, Juvenile-Onset
Achalasia, Cleft palate OMIM:607371
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nasogastric tube feeding, Morphological abnormality of the gastrointestinal tract, Esophageal ste... ORPHA:1018
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Blue i... OMIM:203100
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Feeding difficulties, Gastrostomy tube feeding in infancy, Hyperpigmentation of the skin, General... ORPHA:79396
Castleman Disease
Abdominal pain, Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstru... ORPHA:160
Hartnup Disease
Irregular hyperpigmentation, Glossitis, Malabsorption, Hypopigmented skin patches ORPHA:2116
Polyembryoma
Abdominal distention, Abdominal pain ORPHA:180229
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Velopharyngeal insufficiency, Cleft palate OMIM:154400
Achalasia, Familial Esophageal
Xerostomia, Achalasia OMIM:200400
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Protuberant abdomen OMIM:617102
Griscelli Syndrome
Iris hypopigmentation, Premature graying of hair, Silver-gray hair, White hair, Hypopigmented ski... ORPHA:381
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Optic atrophy, Abdominal distention, Decreased nerve conduction ... ORPHA:309256
Schimke Immunoosseous Dysplasia
Protuberant abdomen, Hypermelanotic macule OMIM:242900
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Feeding difficulties, Decreased nerve conduction ... ORPHA:206436
Young-Onset Parkinson Disease
Tremor, Constipation, Nausea, Abnormal autonomic nervous system physiology, Diarrhea, Gastroparesis ORPHA:2828
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Microcolon, Abdominal distention, Ileal atresia OMIM:619351
Fanconi-Bickel Syndrome
Hepatocellular carcinoma, Abdominal distention, Hepatic failure ORPHA:2088
Alacrima, Achalasia, And Mental Retardation Syndrome
Orthostatic hypotension, Feeding difficulties, Dysphagia, Achalasia, Abnormal autonomic nervous s... OMIM:615510
Kid Syndrome
Furrowed tongue, Oral leukoplakia, Aganglionic megacolon ORPHA:477
Mental Retardation, X-Linked, Syndromic 17
Dysphagia, Achalasia OMIM:300858
Fryns Syndrome
Meckel diverticulum, Intestinal malrotation, Esophageal atresia, Aganglionic megacolon, Duodenal ... OMIM:229850
Mowat-Wilson Syndrome
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Cleft palate, Vo... OMIM:235730
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Hypopigmentation of the skin OMIM:236200
Schinzel-Giedion Syndrome
Macroglossia, Dysphagia, Gastrostomy tube feeding in infancy, Aganglionic megacolon, High palate,... ORPHA:798
Prader-Willi Syndrome
Hypopigmentation of hair, Nasogastric tube feeding in infancy, Xerostomia, Vomiting, Gastroparesi... ORPHA:739
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Congenital pyloric atresia, Intestinal atresia, Abdominal distention ORPHA:79403
Hermansky-Pudlak Syndrome 2
Albinism, Gastroesophageal reflux, Ocular albinism, Fair hair, Generalized hypopigmentation, Aber... OMIM:608233
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Abdominal distention, Episodic abdominal pain, Anorexia ORPHA:370348
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Abdominal distention, Hepatic failure, Protein-losing enteropathy ORPHA:1655
Sim1-Related Prader-Willi-Like Syndrome
Xerostomia, Hypopigmentation of hair, Nasogastric tube feeding, Hypopigmentation of the skin ORPHA:398079
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, White hair, Ocular albinism, High palate, Generalized hypopigmentation ORPHA:2720
Immunodeficiency 77
Gastroparesis OMIM:619223
Epidermodysplasia Verruciformis
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:302
Bloom Syndrome
Recurrent gastroenteritis, Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Esophage... ORPHA:125
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches OMIM:300337
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Achalasia, Optic atrophy, Bo... OMIM:609033
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Protuberant abdomen OMIM:613330
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Gastroparesis, Feeding difficulties in infancy, ... ORPHA:98754
Eosinophilic Granulomatosis With Polyangiitis
Abdominal pain, Dysphagia, Gastroesophageal reflux, Hypopigmented skin patches, Nausea and vomiti... ORPHA:183
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Gastroparesis, Feeding difficulties in infancy, ... ORPHA:98793
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Feeding difficulties OMIM:618367
Acro-Renal-Ocular Syndrome
Optic disc coloboma, Aganglionic megacolon ORPHA:959
Mckusick-Kaufman Syndrome
Rectovaginal fistula, Anal atresia, Aganglionic megacolon OMIM:236700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Gastroparesis, Feeding difficulties in infancy, ... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Gastroparesis, Feeding difficulties in infancy, ... ORPHA:177901
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Congenital pyloric atresia, Abdominal distention ORPHA:158684
Stiff-Person Syndrome
Vitiligo, Exaggerated startle response, Opisthotonus OMIM:184850
Developmental Malformations-Deafness-Dystonia Syndrome
Dysphagia, Macroglossia, Achalasia ORPHA:79107
Syndromic Diarrhea
Hypopigmentation of hair, Villous atrophy, Colitis, Gastritis, Cafe-au-lait spot, Intractable dia... ORPHA:84064
Epidermal Nevus Syndrome
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:35125
Idiopathic Hypereosinophilic Syndrome
Abdominal pain, Dysphagia, Chronic diarrhea, Colitis, Vomiting, Feeding difficulties in infancy, ... ORPHA:3260
Vici Syndrome
Hypopigmentation of hair, Albinism, Ocular albinism, Cleft palate, Hypopigmentation of the skin OMIM:242840
Aromatic L-Amino Acid Decarboxylase Deficiency
Constipation, Gastroesophageal reflux, Limb tremor, Exaggerated startle response, Diarrhea, Feedi... OMIM:608643
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Protuberant abdomen OMIM:151210
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Constipation, Abdominal distention, Feeding difficulties in infancy OMIM:218700
Rothmund-Thomson Syndrome Type 1
Nasogastric tube feeding, Functional abnormality of the gastrointestinal tract, Diarrhea, Hyperpi... ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Nasogastric tube feeding, Functional abnormality of the gastrointestinal tract, Diarrhea, Hyperpi... ORPHA:221016
Hepatocellular Carcinoma
Abdominal pain, Abnormal rectum morphology, Esophageal varix, Anorexia, Diarrhea, Abdominal diste... ORPHA:88673
Tetrasomy 18P
Achalasia ORPHA:3307
Xeroderma Pigmentosum, Complementation Group C
Hypopigmentation of the skin OMIM:278720
Rubinstein-Taybi Syndrome 1
Narrow palate, Constipation, Aganglionic megacolon, Cafe-au-lait spot, High palate, Feeding diffi... OMIM:180849
Sotos Syndrome
Tremor, Feeding difficulties, Constipation, Gastroesophageal reflux, Aganglionic megacolon, Hyper... ORPHA:821
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Spotty hypopigmentation OMIM:300860
Prader-Willi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Feeding difficulties in infancy, Poor suck, Gene... OMIM:176270
Acrofrontofacionasal Dysostosis
High palate, Cleft palate, Brushfield spots, Hypopigmented skin patches ORPHA:1784
Prader-Willi-Like Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Gastroparesis, Feeding difficulties in infancy, ... ORPHA:398073
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of hair, Nasogastric tube feeding in infancy, Hyperpigmen... ORPHA:177907
Mosaic Trisomy 8
High palate, Cleft palate, Hypopigmentation of the skin, Hypopigmented skin patches ORPHA:96061
Hereditary Spherocytosis
Abdominal distention, Abdominal pain ORPHA:822
Chédiak-Higashi Syndrome
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Tremor, Lar... ORPHA:167
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Gastroparesis, Constipation, Gastroesophageal reflux, Facial palsy OMIM:610131
Waardenburg Syndrome, Type 2E
Heterochromia iridis, Premature graying of hair, White eyebrow, Ocular albinism, White eyelashes,... OMIM:611584
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Sialuria
Protuberant abdomen, High palate OMIM:269921
Rothmund-Thomson Syndrome
Reticular hyperpigmentation, Nasogastric tube feeding in infancy, Diarrhea, Vomiting, Hypopigment... ORPHA:2909
Systemic Sclerosis
Abnormal stomach morphology, Irregular hyperpigmentation, Intestinal bleeding, Spotty hypopigment... ORPHA:90291
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Intestinal perforation, Anorexia, Oral-pharyngeal dysphagia, Xeros... ORPHA:95455
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Abnormal intestine morphology, Celiac disease, Achalasia OMIM:615952
Buschke-Ollendorff Syndrome
Generalized hypopigmentation ORPHA:1306
Fraser Syndrome 2
Abdominal distention OMIM:617666
Sandhoff Disease
Macroglossia, Orthostatic hypotension, Chronic diarrhea, Exaggerated startle response, Episodic a... OMIM:268800
Localized Scleroderma
Esophagitis, Vitiligo, Gastroesophageal reflux, Hyperpigmentation of the skin, Hypopigmented skin... ORPHA:90289
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bowel incontinence, Gastroparesis, Tremor, Head titubation OMIM:618877
Porphyria Cutanea Tarda
Hepatocellular carcinoma, Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:101330
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia ORPHA:436174
Schimmelpenning-Feuerstein-Mims Syndrome
Hypopigmentation of the skin OMIM:163200
Galloway-Mowat Syndrome 1
Hiatus hernia, Feeding difficulties, High palate, Optic atrophy, Hypopigmentation of the skin OMIM:251300
Diaphanospondylodysostosis
Protuberant abdomen, Cleft palate OMIM:608022
Scleromyxedema
Hypoperistalsis, Dysphagia, Gastroesophageal reflux, Abnormality of the gastrointestinal tract ORPHA:167635
Lethal Kniest-Like Dysplasia
Protuberant abdomen, Cleft palate ORPHA:2347
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention ORPHA:93352
Scleroderma
Abnormal stomach morphology, Irregular hyperpigmentation, Intestinal bleeding, Spotty hypopigment... ORPHA:801
Glycogen Storage Disease Ia
Protuberant abdomen, Hepatocellular carcinoma, Intermittent diarrhea OMIM:232200
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Protuberant abdomen OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Protuberant abdomen OMIM:277440
Mucopolysaccharidosis Type 3
Macroglossia, Pigmentary retinopathy, Protuberant abdomen, Dysphagia, Constipation, Optic atrophy... ORPHA:581
Curry-Jones Syndrome
Optic disc coloboma, Intestinal malrotation, Hypopigmented skin patches ORPHA:1553
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Anal atresia, Abdominal distention OMIM:271520
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Feeding difficulties ORPHA:2273
Waardenburg Syndrome, Type 1
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:193500
Fibrochondrogenesis 1
Protuberant abdomen, Cleft palate OMIM:228520
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmented skin patches ORPHA:2715
Intellectual Disability-Alacrima-Achalasia Syndrome
Dysphagia, Achalasia ORPHA:289483
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Optic atrophy, Optic disc pallor ORPHA:320406
Mosaic Trisomy 20
Depigmentation/hyperpigmentation of skin, Chronic constipation, Hypopigmented streaks, Cleft palate ORPHA:1724
Hereditary Bullous Dystrophy, Macular Type
Spotty hypopigmentation, Hyperpigmentation of the skin ORPHA:1867
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Harrod Syndrome
High palate, Hypopigmented skin patches ORPHA:2115
Achondrogenesis, Type Ia
Protuberant abdomen OMIM:200600
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypopigmented skin patches ORPHA:1295
Mowat-Wilson Syndrome
Dysphagia, Constipation, Aganglionic megacolon, Bowel incontinence, Bifid uvula, Submucous cleft ... ORPHA:2152
X-Linked Acrogigantism
Abdominal distention ORPHA:300373
Kniest-Like Dysplasia, Lethal
Protuberant abdomen, Cleft palate OMIM:245190
Opsismodysplasia
Protuberant abdomen OMIM:258480
Ruvalcaba Syndrome
Hypopigmented skin patches ORPHA:3121
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Cystinosis, Nephropathic
Hypopigmentation of hair, Exocrine pancreatic insufficiency, Pigmentary retinopathy, Dysphagia, R... OMIM:219800
Proximal Spinal Muscular Atrophy
Dysphagia, Constipation, Gastroesophageal reflux, Gastroparesis, Facial diplegia, Poor suck ORPHA:70
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dysphagia, Constipation, Aganglionic megacolon, Bowel incontinence, Submucous cleft of soft and h... ORPHA:261537
Kindler Syndrome
Oral leukoplakia, Esophageal stenosis, Anal stenosis, Spotty hypopigmentation, Dysphagia, Spotty ... OMIM:173650
Autoimmune Polyendocrinopathy Type 1
Hypopigmented skin patches ORPHA:3453
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Dysphagia, Gastroparesis, Facial palsy, Resting tremor OMIM:157640
Short Rib-Polydactyly Syndrome
Protuberant abdomen, Gastrointestinal atresia, Intestinal malrotation, Cleft palate ORPHA:1505
Hypocalcemic Vitamin D-Dependent Rickets
Protuberant abdomen ORPHA:289157
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response, Optic atrophy OMIM:617301
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Protuberant abdomen, Hepatocellular adenoma, Hepatocellular ... ORPHA:79259
Porphyria, Congenital Erythropoietic
Hyperpigmentation of the skin, Hypopigmentation of the skin OMIM:263700
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dysphagia, Constipation, Aganglionic megacolon, Bowel incontinence, Submucous cleft of soft and h... ORPHA:261552
Koolen-De Vries Syndrome Due To A Point Mutation
Vitiligo, Feeding difficulties, Nasogastric tube feeding in infancy, Fair hair, Cafe-au-lait spot... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Vitiligo, Feeding difficulties, Nasogastric tube feeding in infancy, Fair hair, Cafe-au-lait spot... ORPHA:363958
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Feeding difficulties, Dysphagia, Exaggerated startle response, High palate, Optic atrophy, Poor suck OMIM:617527
Asparagine Synthetase Deficiency
Exaggerated startle response, Feeding difficulties OMIM:615574
Mirage Syndrome
Gastroesophageal reflux, Achalasia, Chronic diarrhea, Esophageal stricture OMIM:617053
Atelosteogenesis Type Ii
Protuberant abdomen, Bilateral cleft palate, Cleft palate ORPHA:56304
Oculocerebrocutaneous Syndrome
Hypopigmented skin patches ORPHA:1647
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Proteasome-Associated Autoinflammatory Syndrome 1
Macroglossia, Premature graying of hair, Protuberant abdomen, Chronic constipation, Hyperpigmenta... OMIM:256040
Leprechaunism
Rectal prolapse, Megarectum, Abdominal distention ORPHA:508
Dyggve-Melchior-Clausen Disease
Protuberant abdomen ORPHA:239
Short-Rib Thoracic Dysplasia 12
Median cleft lip and palate, Protuberant abdomen, Hamartoma of tongue, Intestinal malrotation, Lo... OMIM:269860
Gapo Syndrome
Optic atrophy, Hypopigmented skin patches ORPHA:2067
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Intestinal pseudo-obstruction OMIM:607459
Dyskeratosis Congenita
Oral leukoplakia, Esophageal stenosis, Premature graying of hair, White hair, Hepatic failure, Hy... ORPHA:1775
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gastroparesis, Intestinal pseudo-obstruction ORPHA:70595
Bloom Syndrome
Spotty hypopigmentation, Spotty hyperpigmentation, Cafe-au-lait spot OMIM:210900
Mucolipidosis Ii Alpha/Beta
Protuberant abdomen, Macroglossia OMIM:252500
Mucolipidosis Type Ii
Protuberant abdomen, White hair, Gastrostomy tube feeding in infancy ORPHA:576
Arboleda-Tham Syndrome
Protuberant abdomen, Freckling, Feeding difficulties OMIM:616268
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Esophagitis, Tremor, Achalasia, Feeding difficulties OMIM:615356
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Feeding difficulties in infancy, Exaggerated startle response ORPHA:438216
Plaa-Associated Neurodevelopmental Disorder
Feeding difficulties, Exaggerated startle response, Impaired oropharyngeal swallow response, High... ORPHA:521426
Chromomycosis
Hypopigmented skin patches ORPHA:182
Kasabach-Merritt Syndrome
Hepatic hemangioma, Abdominal distention, Abdominal pain ORPHA:2330
Glycogen Storage Disease Ib
Protuberant abdomen, Hepatocellular carcinoma OMIM:232220
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Gastroparesis, Tremor, Intention tremor OMIM:614052
Duane Retraction Syndrome
Central heterochromia, Irregular hyperpigmentation, Hypopigmented skin patches, Cleft palate, Ano... ORPHA:233
Tay-Sachs Disease
Tremor, Dysphagia, Gastrostomy tube feeding in infancy, Exaggerated startle response, Optic atrophy ORPHA:845
Weill-Marchesani Syndrome 2
Protuberant abdomen, High palate, Narrow palate OMIM:608328
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:2637
Hereditary Acrokeratotic Poikiloderma
Oral leukoplakia, Ankyloglossia, Irregular hyperpigmentation, Abnormality of the gastrointestinal... ORPHA:2907
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Dysphagia, Constipation, Gastroesophageal reflux, Resting tremor, Facial palsy, Gastropar... ORPHA:254892
Hepatoerythropoietic Porphyria
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:95159
Multisystemic Smooth Muscle Dysfunction Syndrome
Hyperperistalsis, Intestinal malrotation OMIM:613834
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Blomstrand Lethal Chondrodysplasia
Protuberant abdomen, Protruding tongue ORPHA:50945
Eec Syndrome
Xerostomia, Generalized hypopigmentation, Cleft palate ORPHA:1896
Cranioectodermal Dysplasia 1
Protuberant abdomen, High palate, High, narrow palate, Hepatic failure OMIM:218330
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Congenital Erythropoietic Porphyria
Increased stool urobilinogen concentration, Hyperpigmentation of the skin, Hypopigmentation of th... ORPHA:79277
Short Stature With Microcephaly And Distinctive Facies
Spotty hypopigmentation, Spotty hyperpigmentation OMIM:615789
Atresia Of Urethra
Abdominal distention ORPHA:105
Pyknoachondrogenesis
Abdominal distention ORPHA:3003
Cowden Syndrome
Macroglossia, Melanocytic nevus, Furrowed tongue, Colorectal polyposis, Multiple cafe-au-lait spo... ORPHA:201
Oculocerebrorenal Syndrome Of Lowe
Narrow palate, Constipation, Gastroesophageal reflux, Feeding difficulties in infancy, Malabsorpt... ORPHA:534
Xeroderma Pigmentosum
Freckling, Melanocytic nevus, Hypopigmented skin patches, Optic atrophy, Hypermelanotic macule ORPHA:910
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Macroglossia, Exaggerated median tongue furrow, Constipation, High, narrow palate, Nasogastric tu... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Macroglossia, Exaggerated median tongue furrow, Constipation, High, narrow palate, Nasogastric tu... ORPHA:352665
Microphthalmia, Syndromic 1
Aganglionic megacolon, Rectal prolapse, Anal atresia, High palate, High, narrow palate, Pyloric s... OMIM:309800
Gm1 Gangliosidosis Type 1
Macroglossia, Exaggerated startle response, Feeding difficulties ORPHA:79255
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Feeding difficulties, Abno... ORPHA:2556
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Fair hair, Xerostomia, Rectovaginal fistula, Anal atresia, Absence of Stensen duct, Cleft palate,... OMIM:129900
Familial Tumoral Calcinosis
Hypopigmented skin patches ORPHA:53715
Papillon-Lefèvre Syndrome
Hypopigmented skin patches ORPHA:678
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Freckling, Neoplasm of the gastrointestinal tract, Heterochr... ORPHA:636
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Ectopic anus, Anal atresia, Bifid tongue, Abdominal distention ORPHA:93271
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Optic nerve hypoplasia, Cleft soft palate, Optic atrophy, Generalized hyp... OMIM:619321
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Tetragametic Chimerism
Hypopigmented skin patches ORPHA:199310
Incontinentia Pigmenti
Abnormality of skin pigmentation, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:464
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Fair hair, Xerostomia, Absence of Stensen duct, Cleft palate, Generalized hypopigmentation, Blue ... OMIM:604292
Sarcoidosis
Abnormality of the gastrointestinal tract, Enlargement of parotid gland, Decreased liver function... ORPHA:797
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Macroglossia, Feeding difficulties, Protuberant abdomen, Gastrostomy tube feeding in infancy, Hep... ORPHA:96334
Spondyloenchondrodysplasia With Immune Dysregulation
Vitiligo, Hypopigmented skin patches on arms, Hypermelanotic macule OMIM:607944
Fabry Disease
Abdominal pain, Achalasia, Anorexia, Optic atrophy, Nausea and vomiting, Malabsorption ORPHA:324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy OMIM:253800
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Cafe-au-lait spot, Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines OMIM:210720
X-Linked Intellectual Disability, Nascimento Type
Chronic constipation, Patchy hypo- and hyperpigmentation ORPHA:163956
Occipital Horn Syndrome
Esophagitis, Hiatus hernia, Abnormality of esophagus physiology, Dysphagia, Gastroesophageal refl... ORPHA:198
Eisenmenger Syndrome
Abdominal distention ORPHA:97214
Rare Cutaneous Lupus Erythematosus
Mixed hypo- and hyperpigmentation of the skin ORPHA:535
Mend Syndrome
Spotty hypopigmentation, High palate, Abnormal auditory evoked potentials, Cleft palate ORPHA:401973
X-Linked Intellectual Disability, Snyder Type
High palate, Patchy hypo- and hyperpigmentation, Cleft palate ORPHA:3063
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Feeding difficulties, Dysphagia, Constipation, Gastroesophageal reflux, Exaggerated startle respo... ORPHA:438213
Pallister-Killian Syndrome
Macroglossia, Feeding difficulties, Anal stenosis, Hypopigmented streaks, Intestinal malrotation,... OMIM:601803
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysphagia, Chronic diarrhea, Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Submuc... ORPHA:500150
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Premature graying of hair, Patchy hypo- and hyperpigmentatio... ORPHA:79474

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Aebp2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Aebp2.

No publications found that use IMPC mice or data for Aebp2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Aebp2tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter