Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... |
OMIM:613265 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal colic, Abdominal distention, Diarrhea, Vomiting |
ORPHA:35122 |
Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... |
ORPHA:241 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... |
ORPHA:103907 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Aganglionic megacolon, Partial albinism, Piebaldism, Wh... |
OMIM:172800 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon |
OMIM:613711 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Irregular hyperpigme... |
ORPHA:2885 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Abdomin... |
ORPHA:388 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... |
ORPHA:895 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Intestinal obstruction, Hypopigmentation of hair, Aganglioni... |
ORPHA:897 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... |
OMIM:277580 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Aganglionic megacolon, Intestinal pseudo-obstruction, Intestinal malrotation... |
OMIM:243180 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Chronic constipation, Short-segment aganglionic megacolon |
OMIM:619465 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Athetosis, Hypopigmentation of the skin |
OMIM:257800 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Vomiting, Anorexia, Abdominal pain |
ORPHA:313906 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... |
ORPHA:160148 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
Abcd Syndrome |
|
White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal auditory evoked potentials, Albin... |
OMIM:600501 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Visceral Myopathy 1 |
|
Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Abdominal pain, Abdominal di... |
OMIM:155310 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Reticular hyperpigmentation |
OMIM:615327 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Achalasia, Hypopigmented skin patches |
ORPHA:3239 |
Waardenburg Syndrome, Type 3 |
|
Aganglionic megacolon, Partial albinism, Blue irides, Hypopigmented skin patches, Premature grayi... |
OMIM:148820 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti... |
OMIM:613662 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Tremor, Optic atrophy, Premature graying... |
ORPHA:33445 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Piebaldism, Hypo... |
ORPHA:2884 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Intestinal obstruction, Hypopigmentation of hair, Agan... |
ORPHA:3440 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption |
OMIM:606824 |
Hirschsprung Disease With Type D Brachydactyly |
|
Aganglionic megacolon |
OMIM:306980 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia |
OMIM:235760 |
Athyreosis |
|
Macroglossia, Constipation, Abdominal distention, Feeding difficulties |
ORPHA:95713 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin pigmentati... |
ORPHA:79397 |
X-Linked Complicated Corpus Callosum Dysgenesis |
|
Aganglionic megacolon |
ORPHA:1497 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon |
OMIM:235750 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Ileus, Athetosis, Constipation, Dystonia |
ORPHA:52503 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Hypopigmentation of the skin |
OMIM:617294 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon |
OMIM:235740 |
Thyroid Hemiagenesis |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95719 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, White hair, Hypo... |
ORPHA:894 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... |
ORPHA:79399 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2150 |
Gemignani Syndrome |
|
Hypopigmented skin patches |
ORPHA:2074 |
American Trypanosomiasis |
|
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia |
ORPHA:3386 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2155 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:89838 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Feeding difficulties in infancy, Abdominal distention, Macroglossia, Constipation, Protuberant ab... |
ORPHA:226313 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Malignant Peritoneal Mesothelioma |
|
Abdominal distention, Peritonitis, Ileus, Abdominal pain |
ORPHA:168811 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin |
OMIM:610798 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Achalasia, Vitiligo |
OMIM:221350 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... |
OMIM:613266 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmentation of hair, Aganglionic megacolon, Abdominal pain, Ileus, Hypopigmented skin patche... |
ORPHA:163746 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Abnormality of the gastrointestinal tract, Small intes... |
ORPHA:298 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Peritonitis, Constipation, Abdominal pain |
ORPHA:168816 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p... |
OMIM:193510 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Limited Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Hypopigmented skin patches, Abnormality of skin pigmentation, Gastroesophage... |
ORPHA:220402 |
Distal 16P11.2 Microdeletion Syndrome |
|
Chronic constipation, Aganglionic megacolon |
ORPHA:261222 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Feeding difficulties in infancy, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:177910 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
High palate, Aganglionic megacolon |
OMIM:304100 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, White eyelashes, Aganglionic megacolon, White e... |
OMIM:609136 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Abdominal pain, Ocular albinis... |
OMIM:203300 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Allodynia, Recurrent infection of the gastrointes... |
ORPHA:51890 |
Primary Effusion Lymphoma |
|
Abdominal distention, Abdominal pain |
ORPHA:48686 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... |
ORPHA:75233 |
Aganglionosis, Total Intestinal |
|
Total intestinal aganglionosis |
OMIM:202550 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Hypermelanotic macule |
ORPHA:69125 |
Qazi-Markouizos Syndrome |
|
Chronic constipation, Torticollis, Abdominal distention, High, narrow palate |
ORPHA:3010 |
L1 Syndrome |
|
Nausea and vomiting, Aganglionic megacolon |
ORPHA:275543 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Feeding difficulties in infancy, Ileus, Constipation, Vomiting, Dystonia |
OMIM:300352 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Cleft palate, Feeding difficulties, Anteriorly placed anus, Athetosis, Con... |
OMIM:239300 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin |
ORPHA:90342 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation |
OMIM:106750 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention |
OMIM:174050 |
Haddad Syndrome |
|
Aganglionic megacolon, Gastroesophageal reflux, Abnormal autonomic nervous system physiology |
ORPHA:99803 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Malabsorption, Aganglionic megacolon, Exocrine pancreatic insufficiency |
ORPHA:452 |
Al-Raqad Syndrome |
|
Chronic constipation, Hypopigmentation of the skin |
OMIM:616459 |
Dermotrichic Syndrome |
|
Aganglionic megacolon |
ORPHA:99688 |
Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
Microvillus Inclusion Disease |
|
Abdominal distention, Diarrhea, Abnormal small intestinal villus morphology, Villous atrophy |
ORPHA:2290 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Feeding difficulties in infancy, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:411515 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Aganglionic megacolon, Feeding difficulties, Chronic constipation, Abnormal autonomic nervous sys... |
OMIM:209880 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Abdominal pain,... |
OMIM:611376 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Protruding tongue, Poor suck, Feeding difficulties, Dysphagia, Hypopigm... |
ORPHA:98795 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Optic disc coloboma, Secretory diarrhea, Cleft pala... |
OMIM:270420 |
Neuroblastoma, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:613013 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Constipation, E... |
ORPHA:100924 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... |
ORPHA:2241 |
Classic Phenylketonuria |
|
Nausea and vomiting, Hypopigmentation of hair, Hypopigmentation of the skin, Tremor |
ORPHA:79254 |
Cartilage-Hair Hypoplasia |
|
Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, Constipation, Fair hair |
OMIM:250250 |
Congenital Central Hypoventilation Syndrome |
|
Abnormality of the autonomic nervous system, Aganglionic megacolon |
ORPHA:661 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate |
ORPHA:85284 |
Folinic Acid-Responsive Seizures |
|
Abdominal distention, Optic atrophy, Dystonia |
ORPHA:79097 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation |
ORPHA:79476 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon |
ORPHA:1438 |
Joubert Syndrome With Renal Defect |
|
Tremor, Aganglionic megacolon, Cleft palate, Feeding difficulties |
ORPHA:220497 |
Lissencephaly Due To Tuba1A Mutation |
|
Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:171680 |
Ovarian Fibroma |
|
Abdominal distention, Peritonitis, Abdominal pain |
ORPHA:314473 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Abdominal distention, Neoplasm of the liver, Vomiting, Nausea |
ORPHA:90003 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Protruding tongue, Tremor, Poor suck, Feeding difficulties, Constipatio... |
ORPHA:98794 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Feeding difficulties, Macroglossia, High palate, Decre... |
ORPHA:79321 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain |
ORPHA:83469 |
Joubert Syndrome |
|
Feeding difficulties in infancy, Aganglionic megacolon, Tremor |
ORPHA:475 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Protruding tongue, Poor suck, Feeding difficulties, Dysphagia, Hypopigm... |
ORPHA:411511 |
Joubert Syndrome With Ocular Defect |
|
Tremor, Aganglionic megacolon, Cleft palate, Feeding difficulties |
ORPHA:220493 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Abdominal distention, Diarrhea, Vomiting, Protein-losing enteropathy, Decreased liver function |
OMIM:608104 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Aganglionic megacolon |
ORPHA:2151 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Aganglionic megacolon, Cleft palate |
ORPHA:66629 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Hiatus hernia, Hypopigmented skin patches, Feeding difficulties, Constipat... |
ORPHA:2896 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption |
ORPHA:71 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Nausea and vomiting, Aganglionic megacolon, Feeding difficulties in infancy, Optic atrophy, Macro... |
ORPHA:847 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Spotty hyperpigmentation, Generalized hypopigmentation, Hyperpigmentation of the skin, Generalize... |
ORPHA:158681 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Generalized hypopigmentation, Irregular hyperpigmentation |
ORPHA:1816 |
Angelman Syndrome |
|
Protruding tongue, Feeding difficulties in infancy, Blue irides, Limb tremor, Macroglossia, Const... |
OMIM:105830 |
Familial Visceral Myopathy |
|
Abdominal distention, Aganglionic megacolon, Cleft palate |
ORPHA:2604 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Anal... |
ORPHA:59315 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Protuberant abdomen |
OMIM:277300 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Hypopigmentation of the skin, Feeding difficulties |
ORPHA:261304 |
Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Hamartoma of tongue, Optic disc coloboma, Cleft palate, Feeding difficulti... |
OMIM:174300 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention, Hepatocellular carcinoma |
ORPHA:369 |
Angelman Syndrome |
|
Abnormality of the gastrointestinal tract, Optic disc pallor, Protruding tongue, Gastrostomy tube... |
ORPHA:72 |
Thyroid Hypoplasia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95720 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Cleft palate, Ectopic anus, High palate, Gastroeso... |
ORPHA:2059 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, High palate, Constipation |
OMIM:162300 |
Porphyria Variegata |
|
Abdominal pain, Ileus, Constipation, Abnormal autonomic nervous system physiology, Hepatocellular... |
ORPHA:79473 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Gastrointestinal stroma tumor, Constipation, Dysphagia, Hyperpigmentation... |
OMIM:606764 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2251 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Gastroesophageal reflux, Abdominal distention |
OMIM:256300 |
Acrocephalopolydactyly |
|
Protuberant abdomen |
ORPHA:221054 |
Infantile Sialic Acid Storage Disease |
|
Hypopigmentation of the skin, Fair hair, High palate |
OMIM:269920 |
Maternal Uniparental Disomy Of Chromosome X |
|
Hepatic failure, Hypopigmentation of the skin |
ORPHA:261519 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Feeding difficulties in infancy, Xerostomia, Chronic constipation, Smooth ... |
ORPHA:1051 |
Toriello-Lacassie-Droste Syndrome |
|
Generalized hyperpigmentation, Aganglionic megacolon, Feeding difficulties |
ORPHA:3339 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Anteriorly placed anus, High palate, Bifid uvula, Gastrostomy tube feeding... |
ORPHA:247262 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
Phenylketonuria |
|
Generalized hypopigmentation, Fair hair, Blue irides |
OMIM:261600 |
Achalasia-Microcephaly Syndrome |
|
Achalasia |
OMIM:200450 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Hypopigmented skin patches, Protuberant abdomen, Cafe-au-lait spot, Intestin... |
ORPHA:457485 |
Niemann-Pick Disease, Type A |
|
Feeding difficulties in infancy, Athetosis, Constipation, Vomiting, Protuberant abdomen |
OMIM:257200 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal atresia, Anal stenosis, Aganglionic megacolon, Cleft palate |
OMIM:614749 |
Meckel Syndrome, Type 8 |
|
Abdominal distention, Cleft palate |
OMIM:613885 |
Acute Radiation Syndrome |
|
Hypopigmentation of the skin, Diarrhea, Vomiting, Hyperpigmentation of the skin |
ORPHA:454831 |
Ovarian Fibrothecoma |
|
Abdominal distention, Peritonitis, Abdominal pain |
ORPHA:314478 |
Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Oculogyric crisis, Leg dystonia, Cleft palate, Pseudobulbar paralysis, Dysp... |
OMIM:607371 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Gastroparesis, Intestinal pseudo-obstruction, Malabsorption, Intestinal perf... |
OMIM:603041 |
Hyperekplexia 2 |
|
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia |
OMIM:614619 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... |
ORPHA:210122 |
Griscelli Syndrome Type 2 |
|
Nausea and vomiting, Hypopigmentation of hair, Partial albinism, Premature graying of hair, Iris ... |
ORPHA:79477 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Narrow palate, Macroglossia, Anal atresia |
ORPHA:870 |
Pancreatoblastoma |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:677 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Achondrogenesis, Type Ib |
|
Abdominal distention |
OMIM:600972 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Abdominal distention, Gastroesophageal reflux, Feeding difficulties |
OMIM:620275 |
Sea-Blue Histiocytosis |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:158029 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Constipation |
OMIM:613603 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Feeding difficulties in infancy, Di... |
OMIM:608643 |
Focal Facial Dermal Dysplasia Type I |
|
Spotty hyperpigmentation, Spotty hypopigmentation |
ORPHA:79133 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Feeding difficulties in infancy, Optic atrophy, Feeding diff... |
ORPHA:1493 |
Hyperekplexia 3 |
|
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia |
OMIM:614618 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Feeding difficulties in infancy, Vomiting, Abdominal distention |
OMIM:613070 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Tremor, Abdominal distention, Diarrhea, Ileus, Pseudobulbar ... |
ORPHA:79276 |
Achondrogenesis Type 1A |
|
Abdominal distention |
ORPHA:93299 |
Lead Poisoning |
|
Anorexia, Abdominal pain, Abdominal distention, Constipation, Vomiting, Abdominal cramps, Abnorma... |
ORPHA:330015 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Gastroparesis, Abdominal ... |
ORPHA:85443 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Aganglionic megacolon, Malabsorption |
ORPHA:935 |
Triple A Syndrome |
|
Achalasia, Generalized hyperpigmentation, Optic atrophy |
ORPHA:869 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Dystonia, Anorexia, Oral-pharyngeal dysphagia, Tremor,... |
ORPHA:2131 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abdominal distention, Diarrhea, Abnormal tongue morphology, Neoplasm of th... |
ORPHA:653 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Celiac disease, Abdominal distention, Gastrointestinal inflammation, Hep... |
ORPHA:186 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Metachromatic Leukodystrophy, Adult Form |
|
Dystonia, Bowel incontinence, Decreased nerve conduction velocity, Abdominal distention, Optic at... |
ORPHA:309271 |
Necrotizing Enterocolitis |
|
Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Vomiting, Recurrent aphthous stom... |
OMIM:212750 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Aganglionic megacolon, Cleft palate |
OMIM:614207 |
Orofaciodigital Syndrome Type 5 |
|
Aganglionic megacolon, Cleft soft palate, High, narrow palate, Bifid tongue, Bifid uvula |
ORPHA:2919 |
Joubert Syndrome With Oculorenal Defect |
|
Aganglionic megacolon |
ORPHA:2318 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia |
ORPHA:2400 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Hypopigmented skin patches |
ORPHA:1825 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Mixed hypo- and hyperpigmentation of the skin, Abdominal pain, Diarr... |
ORPHA:79456 |
Vogt-Koyanagi-Harada Disease |
|
Premature graying of hair, Vitiligo, Hypopigmented skin patches, Poliosis |
ORPHA:3437 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypopigmentation of the skin |
OMIM:615980 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin |
OMIM:601957 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Anorexia, Malabsorption,... |
ORPHA:79430 |
Donohue Syndrome |
|
Abdominal distention, Hypermelanotic macule |
OMIM:246200 |
Fanconi Anemia |
|
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ... |
ORPHA:84 |
Slc35A2-Cdg |
|
Hypopigmentation of the skin, Feeding difficulties, Gastroesophageal reflux, Nasogastric tube fee... |
ORPHA:356961 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Feed... |
OMIM:616881 |
Pontocerebellar Hypoplasia, Type 7 |
|
Optic atrophy, Feeding difficulties, Choreoathetosis, Opisthotonus, High palate, Hypopigmentation... |
OMIM:614969 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Bowel incontinence, F... |
ORPHA:567 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Feeding difficulties in infancy, Abdominal distention, Optic... |
ORPHA:309256 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insuffi... |
ORPHA:309031 |
Schimke Immuno-Osseous Dysplasia |
|
Abdominal distention, Abnormal intestine morphology, Hypermelanotic macule, Multiple lentigines |
ORPHA:1830 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea, Elevated stool chloride content |
OMIM:214700 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Nausea |
ORPHA:100086 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Abdominal pain, Abdominal distention, Diarrhea, Vomiting |
ORPHA:93552 |
Mirizzi Syndrome |
|
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea |
ORPHA:521219 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain |
ORPHA:64739 |
Sepsis In Premature Infants |
|
Abdominal distention, Diarrhea, Gastrointestinal dysmotility, Enterocolitis, Functional abnormali... |
ORPHA:90051 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Abdominal distention, Optic atrophy, Dystonia, Intention tremor |
ORPHA:309263 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Gastroesophageal reflux, Feeding difficulties |
OMIM:620114 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Neoplasm of the liver, Nausea |
ORPHA:100085 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Aganglionic megacolon, Facial palsy, Anal atresia |
OMIM:607323 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Ab... |
OMIM:270400 |
Chronic Actinic Dermatitis |
|
Progressive hyperpigmentation, Hypopigmented skin patches |
ORPHA:330064 |
Currarino Syndrome |
|
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons... |
OMIM:176450 |
Localized Epidermolysis Bullosa Simplex |
|
Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79400 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Aganglionic megacolon, Feeding difficulties in infancy, Pyloric stenosi... |
ORPHA:818 |
Multiple Endocrine Neoplasia, Type Iia |
|
Aganglionic megacolon |
OMIM:171400 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Diarrhea, Esophageal varix, Vomiting, Protuberant abdomen, Steatorrhea, He... |
OMIM:278000 |
Classic Mycosis Fungoides |
|
Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2584 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, High, narrow palate, Hypopigmented skin patches, Multiple cafe-au-lait ... |
ORPHA:3214 |
Achalasia-Microcephaly Syndrome |
|
Achalasia |
ORPHA:929 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Abdominal distention |
OMIM:618528 |
Bardet-Biedl Syndrome 1 |
|
Aganglionic megacolon, High, narrow palate, Bone spicule pigmentation of the retina, High palate |
OMIM:209900 |
Focal Facial Dermal Dysplasia Type Iii |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches, Anal atresia |
ORPHA:1807 |
Phakomatosis Pigmentovascularis |
|
Generalized hyperpigmentation, Hypopigmented skin patches |
ORPHA:2875 |
Dowling-Degos Disease |
|
Inguinal freckling, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Anal ma... |
ORPHA:79145 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix |
OMIM:215600 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... |
ORPHA:275761 |
Autoimmune Polyendocrinopathy Type 2 |
|
Celiac disease, Hypopigmented skin patches |
ORPHA:3143 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Aganglionic megacolon, Malabsorption |
ORPHA:175 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Torticollis, Anorexia, Abdominal distention, Episodic abdominal pain |
ORPHA:370348 |
Young-Onset Parkinson Disease |
|
Gastroparesis, Tremor, Diarrhea, Constipation, Abnormal autonomic nervous system physiology, Dyst... |
ORPHA:2828 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Abdominal distention, Gastrointestinal atresia, Bloody diarrhea, Intestin... |
ORPHA:436252 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Lichen Planus Pemphigoides |
|
Hypopigmented streaks |
ORPHA:254478 |
Immunodeficiency 70 |
|
Celiac disease, Achalasia, Colitis |
OMIM:618969 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abdominal distention, Microcolon |
OMIM:619362 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Feeding difficulties in infancy, Cleft palate, Anteriorly placed anus, Hig... |
ORPHA:3338 |
Lichen Planopilaris |
|
Abnormal intestine morphology, Hypopigmented skin patches |
ORPHA:525 |
Letterer-Siwe Disease |
|
Stomatitis, Abdominal distention |
OMIM:246400 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal... |
ORPHA:160 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention, Cleft palate |
ORPHA:85166 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Reticulated skin pigmentation, Hyperpigmentation in sun-exposed areas, Hypopigmentation of the sk... |
ORPHA:69087 |
Mismatch Repair Cancer Syndrome 1 |
|
Axillary freckling, Adenomatous colonic polyposis, Adenocarcinoma of the small intestine, Adenoca... |
OMIM:276300 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Protuberant abdomen |
OMIM:618272 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Decreased nerve conduction velocity, Silver-gray hair, Tremor, Ocular a... |
OMIM:214500 |
Polyembryoma |
|
Abdominal distention, Abdominal pain |
ORPHA:180229 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling, Protuberant abdomen |
OMIM:617102 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Gastroesophageal reflux, Chronic diarrhea, Vomiting, Abdominal distention |
OMIM:620233 |
Wilson Disease |
|
Acute hepatic failure, Limb dystonia, Dystonia, Decreased nerve conduction velocity, Abdominal di... |
OMIM:277900 |
X-Linked Agammaglobulinemia |
|
Glossoptosis, Chronic diarrhea, Hypopigmented skin patches, Malabsorption |
ORPHA:47 |
Hartnup Disease |
|
Irregular hyperpigmentation, Glossitis, Hypopigmented skin patches, Malabsorption |
ORPHA:2116 |
Hermansky-Pudlak Syndrome 6 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism |
OMIM:614075 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Achalasia, Dysphagia |
OMIM:615750 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Cleft palate, Ectopic anus, High palate, Anal atresia |
ORPHA:2473 |
Crouzon Syndrome |
|
Optic atrophy, Hypopigmented skin patches, Narrow palate, Melanocytic nevus |
ORPHA:207 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches |
ORPHA:626 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Achalasia, ... |
OMIM:231550 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Feeding difficulties in infancy, Exaggerated startle response, Gastroesophageal reflux |
OMIM:608800 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Abdominal distention, Cleft palate, High palate, Protein-losing enteropathy, Hepatic failure |
OMIM:235255 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon |
OMIM:609460 |
Thyroid Ectopia |
|
Macroglossia, Constipation, Abdominal distention |
ORPHA:95712 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morpholo... |
ORPHA:1018 |
Muenke Syndrome |
|
High, narrow palate, Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Anorexia, Melanocytic nevus, Multiple cafe-au-lait spots, Ge... |
ORPHA:1969 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Nasogastric ... |
ORPHA:206436 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Dystonia, Reye syndrome-like episodes, Diarrhea, Abdominal distention, Vom... |
OMIM:256810 |
Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Vitiligo |
OMIM:184850 |
Menkes Disease |
|
Hypopigmentation of the skin |
OMIM:309400 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Meckel diverticu... |
OMIM:229850 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Xerostomia, Poor suck, Feeding difficulties, Chronic constipation, Gast... |
ORPHA:398069 |
Griscelli Syndrome |
|
Pyloric stenosis, Silver-gray hair, White hair, Hypopigmented skin patches, Premature graying of ... |
ORPHA:381 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Abdominal distention, Peritonitis, Microcolon, Ileal atresia |
OMIM:619351 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Depigmentation/hyperpigmentation of skin, Generalized reticulate brown pigmentation, Feeding diff... |
ORPHA:79396 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Protuberant abdomen |
OMIM:613330 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Abdominal distention |
OMIM:619423 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Brushfield spots, Duodenal stenosis, Macroglossia, Anal... |
OMIM:190685 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Achalasia, Generalized dystonia, Dysphagia |
ORPHA:79107 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Protuberant abdomen, Cleft palate |
OMIM:184250 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypopigmentation of the skin, High palate |
OMIM:236200 |
Bloom Syndrome |
|
Poor appetite, Esophageal neoplasm, Gastroesophageal reflux, Recurrent gastroenteritis, Neoplasm ... |
ORPHA:125 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Hypopigmentation of the skin, High palate, Optic neuropathy |
OMIM:620237 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Gastroparesis, Nasogastric tube feeding in infancy, Xerostomia, Poor su... |
ORPHA:739 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gastroparesis, Bowel incontinence, Tremor, Head titubation, Choreoathetosis, Dystonia |
OMIM:618877 |
Fibrochondrogenesis 2 |
|
Protuberant abdomen |
OMIM:614524 |
Schinzel-Giedion Syndrome |
|
Aganglionic megacolon, Anteriorly placed anus, Macroglossia, High palate, Dysphagia, Hepatoblasto... |
ORPHA:798 |
Intellectual Disability And Myopathy Syndrome |
|
Cafe-au-lait spot, Spotty hypopigmentation |
OMIM:619719 |
Fanconi-Bickel Syndrome |
|
Abdominal distention, Hepatic failure, Hepatocellular carcinoma |
ORPHA:2088 |
Xeroderma Pigmentosum, Complementation Group C |
|
Freckling, Hypopigmentation of the skin |
OMIM:278720 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Abdominal distention, Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
Hypomelanosis Of Ito |
|
Macular hypopigmented whorls, streaks, and patches |
OMIM:300337 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abdominal distention, Hepatic failure, High palate, Protein-losing enteropathy |
ORPHA:1655 |
Immunodeficiency 77 |
|
Gastroparesis |
OMIM:619223 |
Achalasia, Familial Esophageal |
|
Achalasia, Xerostomia |
OMIM:200400 |
Acro-Renal-Ocular Syndrome |
|
Optic disc coloboma, Aganglionic megacolon |
ORPHA:959 |
Epidermodysplasia Verruciformis |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:302 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Anal atresia, Rectovaginal fistula |
OMIM:236700 |
Curry-Jones Syndrome |
|
Optic disc coloboma, Hypopigmented skin patches, Intestinal malrotation |
ORPHA:1553 |
Hermansky-Pudlak Syndrome 8 |
|
Optic disc pallor, Albinism, Silver-gray hair, Blue irides, Ocular albinism, Iris transilluminati... |
OMIM:614077 |
Galloway-Mowat Syndrome 1 |
|
Hiatus hernia, Optic atrophy, Feeding difficulties, High palate, Dystonia, Hypopigmentation of th... |
OMIM:251300 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Optic atrophy, Pigmentary retinopathy, Achalasia, Decrea... |
OMIM:609033 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Gastroparesis, Feeding difficulties in infancy, Hypopigmentation of the... |
ORPHA:98754 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Achalasia, Dysphagia |
OMIM:300858 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Xerostomia, Nasogastric tube feeding |
ORPHA:398079 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Gastroparesis, Feeding difficulties in infancy, Hypopigmentation of the... |
ORPHA:98793 |
Acrofacial Dysostosis 1, Nager Type |
|
Velopharyngeal insufficiency, Aganglionic megacolon, Cleft palate |
OMIM:154400 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Albinism, Ocular albinism, Gastroesophageal reflux, Generalized h... |
OMIM:608233 |
Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Pyloric stenosis, Abdominal distention, Submucous cleft hard palate, Cleft... |
OMIM:235730 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, C... |
ORPHA:177907 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Gastroparesis, Feeding difficulties in infancy, Hypopigmentation of the... |
ORPHA:177904 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abdominal distention, Vomiting, Congenital pyloric atresia |
ORPHA:158684 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
White hair, Ocular albinism, High palate, Generalized hypopigmentation, Iris hypopigmentation |
ORPHA:2720 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Malabsorption, Abdominal pain, Hypopigmented skin pa... |
ORPHA:183 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Gastroparesis, Feeding difficulties in infancy, Hypopigmentation of the... |
ORPHA:177901 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Choreoathetosis, Abnormality of retinal pigmentation, Optic atrophy, Hypopigmented skin patches |
ORPHA:2715 |
Fanconi-Bickel Syndrome |
|
Abdominal distention, Poor appetite, Malabsorption |
OMIM:227810 |
Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response, Chronic diarrhea, Episodic abdominal pain,... |
OMIM:268800 |
Epidermal Nevus Syndrome |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:35125 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
Syndromic Diarrhea |
|
Dependency on intravenous nutrition, Villous atrophy, Hypopigmentation of hair, Gastritis, Hepato... |
ORPHA:84064 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Feeding difficulties in infancy, Poor suck, Tube feeding, Generalized h... |
OMIM:176270 |
Rothmund-Thomson Syndrome Type 1 |
|
Diarrhea, Functional abnormality of the gastrointestinal tract, Vomiting, Hypopigmentation of the... |
ORPHA:221008 |
Schimke Immunoosseous Dysplasia |
|
Hypermelanotic macule, Protuberant abdomen |
OMIM:242900 |
Gaucher Disease, Type Ii |
|
Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dysphagia |
OMIM:230900 |
Idiopathic Hypereosinophilic Syndrome |
|
Malabsorption, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, Chronic dia... |
ORPHA:3260 |
Rothmund-Thomson Syndrome Type 2 |
|
Diarrhea, Functional abnormality of the gastrointestinal tract, Cleft palate, High palate, Vomiti... |
ORPHA:221016 |
Sotos Syndrome |
|
Aganglionic megacolon, Tremor, Feeding difficulties, Constipation, Gastroesophageal reflux, Hypop... |
ORPHA:821 |
Fraser Syndrome 2 |
|
Abdominal distention, Rectal atresia, Intestinal malrotation, Anal atresia |
OMIM:617666 |
Tetrasomy 18P |
|
Achalasia |
ORPHA:3307 |
Mosaic Trisomy 8 |
|
Hypopigmentation of the skin, High palate, Hypopigmented skin patches, Cleft palate |
ORPHA:96061 |
Porphyria Cutanea Tarda |
|
Hepatocellular carcinoma, Hypopigmentation of the skin, Hyperpigmentation of the skin, Increased ... |
ORPHA:101330 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Feeding difficulties, High palate |
OMIM:618056 |
Meckel Syndrome 14 |
|
Abdominal distention, Protuberant abdomen |
OMIM:619879 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerve conduction velocit... |
ORPHA:167 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention |
OMIM:602557 |
Rothmund-Thomson Syndrome |
|
Nasogastric tube feeding in infancy, Diarrhea, Reticular hyperpigmentation, Vomiting, Hypopigment... |
ORPHA:2909 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Macroglossia, Constipation, Abdominal distention |
OMIM:218700 |
Sialuria |
|
Macroglossia, High palate, Protuberant abdomen |
OMIM:269921 |
Acrofrontofacionasal Dysostosis |
|
Brushfield spots, High palate, Hypopigmented skin patches, Cleft palate |
ORPHA:1784 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Abdominal distention, Diarrhea, Xero... |
ORPHA:95455 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Generalized hypopigmentation, Iris transillumination defect |
OMIM:617306 |
Localized Scleroderma |
|
Hypopigmented skin patches, Gastroesophageal reflux, Esophagitis, Hyperpigmentation of the skin, ... |
ORPHA:90289 |
Vici Syndrome |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Cleft palate, High palate, Dysphagia, Hypopi... |
OMIM:242840 |
Hereditary Spherocytosis |
|
Abdominal distention, Abdominal pain |
ORPHA:822 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypopigmentation of the skin |
OMIM:163200 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Achalasia |
ORPHA:436174 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention |
ORPHA:93352 |
Schneckenbecken Dysplasia |
|
Protuberant abdomen, Cleft palate |
OMIM:269250 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Small intestinal dysmotility, Feeding difficulties, Chronic constipation, Gastroesophageal reflux... |
OMIM:619482 |
Thanatophoric Dysplasia, Type I |
|
Protuberant abdomen |
OMIM:187600 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Dysphagia, Hypoperistalsis |
ORPHA:167635 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hypopigmentation of the skin, Torticollis, Isometric tremor, Abdominal pain, Head titubation, Hig... |
OMIM:619475 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Constipation, Gastroesophageal reflux, Facial palsy, Gastroparesis |
OMIM:610131 |
Diaphanospondylodysostosis |
|
Protuberant abdomen, Cleft palate |
OMIM:608022 |
Achondrogenesis, Type Ii |
|
Protuberant abdomen, Cleft palate |
OMIM:200610 |
Hereditary Bullous Dystrophy, Macular Type |
|
Spotty hypopigmentation, Hyperpigmentation of the skin |
ORPHA:1867 |
Lymphatic Malformation 7 |
|
Abdominal distention |
OMIM:617300 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Celiac disease, Achalasia, Abnormal intestine morphology, Exocrine pancreatic insufficiency |
OMIM:615952 |
Glycogen Storage Disease Ia |
|
Intermittent diarrhea, Protuberant abdomen, Hepatocellular carcinoma |
OMIM:232200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Chronic constipation, Hypopigmentation of the skin, Cleft palate |
OMIM:301066 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Protuberant abdomen |
OMIM:264700 |
Vitamin D-Dependent Rickets, Type 2A |
|
Protuberant abdomen |
OMIM:277440 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Hepatic failure, Intractable diarrhea, Generalized hypopigmentation, Cafe-au-lai... |
OMIM:222470 |
Lethal Kniest-Like Dysplasia |
|
Protuberant abdomen, Cleft palate |
ORPHA:2347 |
Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology |
ORPHA:85451 |
Mucopolysaccharidosis Type 3 |
|
Malabsorption, Optic atrophy, Macroglossia, Pigmentary retinopathy, Constipation, Protuberant abd... |
ORPHA:581 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Feeding difficulties |
OMIM:617864 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Aganglionic megacolon, Feeding difficulties |
ORPHA:2273 |
Mosaic Trisomy 20 |
|
Depigmentation/hyperpigmentation of skin, Chronic constipation, Hypopigmented streaks, Cleft palate |
ORPHA:1724 |
Bloom Syndrome |
|
Cafe-au-lait spot, Hypopigmentation of the skin, Spotty hypopigmentation |
OMIM:210900 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f... |
OMIM:193500 |
Arboleda-Tham Syndrome |
|
Dystonia, Intestinal malrotation, Optic atrophy, Cleft palate, Feeding difficulties, Gastroesopha... |
OMIM:616268 |
Degcags Syndrome |
|
Hypopigmentation of hair, Jejunal atresia, Protruding tongue, Oral-pharyngeal dysphagia, Pyloric ... |
OMIM:619488 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Achalasia, Gastroesophageal reflux, Cleft palate, Feeding difficulties |
OMIM:600987 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Protuberant abdomen |
OMIM:151210 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Feeding difficulties in infancy, Exaggerated startle response, High palate, Dystonia |
ORPHA:438216 |
Neu-Laxova Syndrome 2 |
|
Protuberant abdomen, High palate, Cleft palate |
OMIM:616038 |
Harrod Syndrome |
|
High palate, Hypopigmented skin patches |
ORPHA:2115 |
Fibrochondrogenesis 1 |
|
Protuberant abdomen, Cleft palate |
OMIM:228520 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypopigmented skin patches |
ORPHA:1295 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention, Anal atresia |
OMIM:271520 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Dysphagia |
OMIM:617301 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carcinoma |
OMIM:232220 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Optic atrophy, Feeding difficulties, High palate, Dysphagia, Poor suck |
OMIM:617527 |
Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... |
ORPHA:2152 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Mucolipidosis Ii Alpha/Beta |
|
Macroglossia, Hypopigmentation of the skin, Protuberant abdomen |
OMIM:252500 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Optic atrophy, Feeding difficulties, High palate, Dystonia, Impaire... |
ORPHA:521426 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Spotty hypopigmentation, Dysphagia, Spotty hyperpigmentation,... |
OMIM:173650 |
Ruvalcaba Syndrome |
|
Hypopigmented skin patches |
ORPHA:3121 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Spotty hypopigmentation |
OMIM:300860 |
Kasabach-Merritt Syndrome |
|
Abdominal distention, Hepatic hemangioma, Abdominal pain |
ORPHA:2330 |
Pemphigus Erythematosus |
|
Hypopigmented skin patches |
ORPHA:79480 |
Tay-Sachs Disease |
|
Exaggerated startle response, Dystonia, Tremor, Optic atrophy, Dysphagia, Laryngeal dystonia, Gas... |
ORPHA:845 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Porphyria, Congenital Erythropoietic |
|
Hypopigmentation of the skin, Increased fecal coproporphyrin 1, Hyperpigmentation of the skin |
OMIM:263700 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypopigmented skin patches |
ORPHA:3453 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Achalasia, Dysphagia |
ORPHA:289483 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, Feeding difficulties, Gastroesophag... |
OMIM:615574 |
X-Linked Acrogigantism |
|
Abdominal distention |
ORPHA:300373 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Diarrhea, Hepatocellular adenoma, Ulcerative colitis, Enterocolitis, Inflammation of the large in... |
ORPHA:79259 |
Proximal Spinal Muscular Atrophy |
|
Gastroparesis, Facial diplegia, Constipation, Gastroesophageal reflux, Dysphagia, Poor suck |
ORPHA:70 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Cleft palate, Sub... |
ORPHA:261537 |
Hurler Syndrome |
|
Macroglossia, Protuberant abdomen |
OMIM:607014 |
Mucopolysaccharidosis, Type Vii |
|
Macroglossia, Protuberant abdomen |
OMIM:253220 |
Short-Rib Thoracic Dysplasia 12 |
|
Intestinal malrotation, Hamartoma of tongue, Lobulated tongue, Protuberant abdomen, Median cleft ... |
OMIM:269860 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Abdominal distention, Diarrhea, Peritonitis, Dependency on parenteral nutritio... |
OMIM:619991 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Nasogastric tube feeding in infancy, Optic atrophy, Feeding difficulties, Cafe-au-lait spot, Fair... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Nasogastric tube feeding in infancy, Optic atrophy, Feeding difficulties, Cafe-au-lait spot, Fair... |
ORPHA:363958 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Abdominal distention, Hepatic failure |
OMIM:617156 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Gastroparesis, Facial palsy, Hand tremor, Dysphagia |
OMIM:157640 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Optic atrophy, Cl... |
ORPHA:261552 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Hypermelanotic macule, Malabsorption, Anorectal anomaly, White hair, Tracheo... |
ORPHA:1775 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Protuberant abdomen |
ORPHA:289157 |
Atelosteogenesis Type Ii |
|
Bilateral cleft palate, Protuberant abdomen, Cleft palate |
ORPHA:56304 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Intestinal malrotation, Hypoperistalsis |
OMIM:613834 |
Achondrogenesis, Type Ia |
|
Protuberant abdomen, Protruding tongue |
OMIM:200600 |
Viss Syndrome |
|
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |
Oculocerebrocutaneous Syndrome |
|
Hypopigmented skin patches |
ORPHA:1647 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Tremor, Feeding difficulties, Athetosis, Esophagitis, Dystonia, Achalasia |
OMIM:615356 |
Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Oral-pharyngeal dysphagia, Retinal pigment epithelial mottling, Pigment... |
OMIM:219800 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Esophageal stenosis, Feeding difficulties, Dysphagia, Achalasia |
OMIM:615510 |
Opsismodysplasia |
|
Protuberant abdomen |
OMIM:258480 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Intestinal pseudo-obstruction, Gastroparesis |
ORPHA:70595 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Anorectal anomaly, Hypopigmented skin pat... |
ORPHA:233 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Gapo Syndrome |
|
Optic atrophy, Hypopigmented skin patches |
ORPHA:2067 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Parotitis, Premature graying of hair, Macroglossia, Chronic constipation, Protuberant abdomen, Hy... |
OMIM:256040 |
Leprechaunism |
|
Abdominal distention, Rectal prolapse, Megarectum |
ORPHA:508 |
Hepatoerythropoietic Porphyria |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin, Increased fecal porphyrin |
ORPHA:95159 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Aganglionic megacolon, Cleft palate |
OMIM:308205 |
Mirage Syndrome |
|
Achalasia, Chronic diarrhea, Gastroesophageal reflux, Esophageal stricture |
OMIM:617053 |
Chromomycosis |
|
Hypopigmented skin patches |
ORPHA:182 |
Dyggve-Melchior-Clausen Disease |
|
Protuberant abdomen |
ORPHA:239 |
Mucolipidosis Type Ii |
|
White hair, Protuberant abdomen, Gastrostomy tube feeding in infancy |
ORPHA:576 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Feeding difficulties, Protuberant abdomen, Tube feeding |
OMIM:619479 |
Gm1 Gangliosidosis Type 1 |
|
Macroglossia, Exaggerated startle response, Dystonia, Feeding difficulties |
ORPHA:79255 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Atelosteogenesis, Type I |
|
Protuberant abdomen, Cleft palate |
OMIM:108720 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Xerostomia, Hypopigmented skin patches, Irregular hype... |
ORPHA:2907 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Chops Syndrome |
|
Gastroparesis, High, narrow palate, Optic atrophy, Constipation, Gastroesophageal reflux |
OMIM:616368 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Gastroparesis, Facial palsy, Tremor, Facial diplegia, Constipation, Gastroesophag... |
ORPHA:254892 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Tremor, Gastroparesis, Intention tremor |
OMIM:614052 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:2637 |
Weill-Marchesani Syndrome 2 |
|
Protuberant abdomen, High palate, Narrow palate |
OMIM:608328 |
Atresia Of Urethra |
|
Abdominal distention |
ORPHA:105 |
Oculocerebrorenal Syndrome Of Lowe |
|
Malabsorption, Feeding difficulties in infancy, Narrow palate, Constipation, Gastroesophageal ref... |
ORPHA:534 |
Congenital Erythropoietic Porphyria |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin, Increased fecal coproporphyrin 1, In... |
ORPHA:79277 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Optic atrophy |
OMIM:617281 |
Focal Dermal Hypoplasia |
|
Linear hyperpigmentation, Intestinal malrotation, Hiatus hernia, Optic atrophy, Cleft palate, Ret... |
OMIM:305600 |
Blomstrand Lethal Chondrodysplasia |
|
Protuberant abdomen, Protruding tongue |
ORPHA:50945 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic nerve hypoplasia, Intestinal malrotation, Cleft soft palate, Optic atrophy, Generalized hyp... |
OMIM:619321 |
Mgat2-Cdg |
|
Gastrostomy tube feeding in infancy, Feeding difficulties, Gastroesophageal reflux, Gastroparesis |
ORPHA:79329 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Xerostomia, Blue irides, Cleft palate, Anteriorly placed ... |
OMIM:604292 |
Xeroderma Pigmentosum |
|
Hypermelanotic macule, Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Freckling |
ORPHA:910 |
Microphthalmia, Syndromic 1 |
|
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Optic disc coloboma, Pyloric stenosi... |
OMIM:309800 |
Cowden Syndrome |
|
Hypopigmented skin patches, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Melanocytic n... |
ORPHA:201 |
Eec Syndrome |
|
Generalized hypopigmentation, Xerostomia, Cleft palate |
ORPHA:1896 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Blue irides, Cleft palate, Rectovaginal fistula, Generalized... |
OMIM:129900 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Gastroparesis, Intestinal pseudo-obstruction, Optic nerve hypop... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Gastroparesis, Intestinal pseudo-obstruction, Optic nerve hypop... |
ORPHA:352665 |
Greenberg Dysplasia |
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Protuberant abdomen |
OMIM:215140 |
Cranioectodermal Dysplasia 1 |
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High, narrow palate, Hepatic failure, High palate, Protuberant abdomen |
OMIM:218330 |
Short Stature With Microcephaly And Distinctive Facies |
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Spotty hyperpigmentation, Spotty hypopigmentation |
OMIM:615789 |
Incontinentia Pigmenti |
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Abnormality of skin pigmentation, Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:464 |
Sarcoidosis |
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Abnormality of the gastrointestinal tract, Hyperpigmentation of the skin, Facial palsy, Enlargeme... |
ORPHA:797 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, Feeding difficulties, Dysphagia |
OMIM:618367 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Intestinal pseudo-obstruction, Gastroparesis, Retinal pigment epithelial mottling, Dysphagia |
OMIM:607459 |
Pyknoachondrogenesis |
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Abdominal distention |
ORPHA:3003 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response, Optic atrophy |
OMIM:253800 |
Familial Tumoral Calcinosis |
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Hypopigmented skin patches |
ORPHA:53715 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormality of retinal pigmentation, Hypopigmented skin patches, Feeding difficulties, Abnormalit... |
ORPHA:2556 |
Papillon-Lefèvre Syndrome |
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Hypopigmented skin patches |
ORPHA:678 |
Neurofibromatosis Type 1 |
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Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M... |
ORPHA:636 |
Tetragametic Chimerism |
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Hypopigmented skin patches |
ORPHA:199310 |
Acute Transverse Myelitis |
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Orthostatic hypotension, Gastroparesis, Paralytic ileus, Constipation, Abnormal autonomic nervous... |
ORPHA:139417 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Hypopigmented skin patches on arms, Hypermelanotic macule, Vitiligo |
OMIM:607944 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Esophageal atresia, Abdominal distention, Ectopic anus, Bifid tongue, Anal atresia |
ORPHA:93271 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Feeding difficulties, Macroglossia, Protuberant abdomen, Hepatoblastoma, Gastrostomy tube feeding... |
ORPHA:96334 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Protuberant abdomen |
OMIM:618019 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Abdominal distention, Esophageal varix, Gastroesophageal reflux |
OMIM:619534 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Cafe-au-lait spot |
OMIM:210720 |
X-Linked Intellectual Disability, Nascimento Type |
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Chronic constipation, Patchy hypo- and hyperpigmentation |
ORPHA:163956 |
Eisenmenger Syndrome |
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Abdominal distention |
ORPHA:97214 |
Isolated Congenital Alacrima |
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Achalasia |
ORPHA:91416 |
Occipital Horn Syndrome |
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Gastroparesis, Hiatus hernia, High, narrow palate, Gastroesophageal reflux, Esophagitis, Dysphagi... |
ORPHA:198 |
Pallister-Killian Syndrome |
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Anal stenosis, Intestinal malrotation, Hyperpigmented streaks, Cleft palate, Poor suck, Anteriorl... |
OMIM:601803 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Optic disc pallor, Exaggerated startle response, Dystonia, Feeding difficulties, Constipation, Ga... |
ORPHA:438213 |
Mend Syndrome |
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Cleft palate, High palate, Spotty hypopigmentation, Abnormal auditory evoked potentials |
ORPHA:401973 |
X-Linked Intellectual Disability, Snyder Type |
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Patchy hypo- and hyperpigmentation, High palate, Cleft palate |
ORPHA:3063 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Gastroparesis, Optic nerve hypoplasia, Feeding difficulties in infancy, Gastrointestinal dysmotil... |
ORPHA:500150 |
Mend Syndrome |
|
High palate, Spotty hypopigmentation |
OMIM:300960 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Feeding difficulties, High palate, Dysphagia |
OMIM:619522 |
Cardiospondylocarpofacial Syndrome |
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Feeding difficulties, Gastroesophageal reflux, Gastroparesis |
OMIM:157800 |
Atypical Werner Syndrome |
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Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Premature graying of hai... |
ORPHA:79474 |