Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
hes family bHLH transcription factor 1
Synonyms:
Hry,  bHLHb39

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 Hes1 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 Hes1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:618157
Cholangiocarcinoma, Susceptibility To
Cholangiocarcinoma OMIM:615619
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, P... ORPHA:231720
Thyroid Hormone Metabolism, Abnormal, 1
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Anterior hypopitu... OMIM:221750
Mirizzi Syndrome
Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of the duc... ORPHA:521219
Septooptic Dysplasia
Agenesis of corpus callosum, Diabetes insipidus, Anterior pituitary hypoplasia, Absent septum pel... OMIM:182230
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland, Hypoplasia of the corpus callosum, Diffuse cerebral atrophy, Elevated hepa... OMIM:617395
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Meckel Syndrome, Type 6
Absent gallbladder, Bile duct proliferation, Occipital encephalocele, Anencephaly, Cystic liver d... OMIM:612284
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Fusion of the left and right thalami, Splenogonadal fusion, Agenesis of corpu... OMIM:156810
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Cholestasis, Interface hepatitis, Gra... ORPHA:562639
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatosplenomegaly,... ORPHA:79302
Diprosopus
External ear malformation, Abnormality of retinal pigmentation, Anencephaly, Cleft palate ORPHA:1681
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Intrauterine growth retardation, Low-set ears, Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasi... ORPHA:2570
Caroli Syndrome
Hepatic failure, Portal hypertension, Cholangitis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:480520
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele,... ORPHA:1528
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Increased glucagon level, Glucagonoma, Neoplas... ORPHA:438274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Occipital encephalocele, Cerebellar hypoplasia, Anencephaly, Retinal... OMIM:615287
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Pentalogy Of Cantrell
Absent gallbladder, Anencephaly, Hydrocephalus, Pulmonary hypoplasia, Polysplenia, Cleft palate, ... ORPHA:1335
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Anterior pituitary hypoplasia, Decreased serum insulin-like growth factor 1, Hypoplasia of the co... ORPHA:67045
Mitchell-Riley Syndrome
Absent gallbladder, Intrauterine growth retardation, Cholestasis, Intestinal malrotation, Pancrea... OMIM:615710
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Anal atresia, Microcephaly, Holoprosencep... ORPHA:1590
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, High palate, Absent gallbladder, Intrauterine growth retardation, Lo... ORPHA:556955
Cholestasis, Progressive Familial Intrahepatic, 8
Sclerosing cholangitis, Portal hypertension, Elevated circulating alanine aminotransferase concen... OMIM:619662
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Low-set ears, Cerebellar hypoplasia, Hydranencephaly, Hypoplasia of the brainstem, Neonatal death... OMIM:236500
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Decreased testicular size OMIM:614880
Meckel Syndrome, Type 5
Bile duct proliferation, Anencephaly OMIM:611561
Aminopterin/Methotrexate Embryofetopathy
Intrauterine growth retardation, Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Low-set,... ORPHA:1908
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Intrauterine growth retardation, Bile duct proliferation, Anen... OMIM:611134
Ane Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Abnormal response to ACTH stimulati... ORPHA:157954
Opitz gbbb syndrome, type II
Hiatus hernia, High palate, Absent gallbladder, Bifid uvula, Agenesis of corpus callosum, Anal st... OMIM:145410
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Cryptorchidism, Hypopituitarism, Ectopic poste... OMIM:615849
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Vacterl/Vater Association
Abnormality of the pancreas, Intrauterine growth retardation, Abnormality of the gallbladder, Cry... ORPHA:887
Hydrolethalus
Bifid uvula, Agenesis of corpus callosum, Low-set ears, Cryptorchidism, Anencephaly, Low-set, pos... ORPHA:2189
Steinfeld Syndrome
Absent gallbladder, Bifid uvula, Median cleft lip and palate, Holoprosencephaly, Retinal coloboma... OMIM:184705
Isolated Biliary Atresia
Hypothyroidism, Periportal fibrosis, Cholestasis, Bile duct proliferation, Hypopituitarism, Atret... ORPHA:30391
Cog2-Cdg
Small pituitary gland, Hypoplasia of the corpus callosum, Decreased liver function, Diffuse cereb... ORPHA:435934
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Di... ORPHA:300385
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Advanced eruption of teeth, Agenesis of corpus callosum, Delayed eruption of teeth, ... OMIM:619148
Trisomy 8P
Malrotation of small bowel, Abnormal lung lobation, Bifid uvula, Recurrent upper respiratory trac... ORPHA:264450
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Anencephaly, Spina bifida, Cleft palate ORPHA:2476
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly, Intrauterine growth retardation ORPHA:293
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:453533
Meckel Syndrome, Type 2
Intrauterine growth retardation, Bile duct proliferation, Anencephaly, Dandy-Walker malformation,... OMIM:603194
Schisis Association
Anencephaly, Tracheoesophageal fistula, Anal atresia, Microcephaly, Spina bifida, Cleft palate, E... ORPHA:63862
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Frontal encephalocele... OMIM:218670
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Low-set ears, Esophageal diverticulum, Microtia, Hamartoma of tongue, Anal at... OMIM:617925
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Stillbirth, Arrhinencephaly OMIM:300073
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Cholestasis, Pancreatic cysts, Bile duct proliferation, Hepatomegaly, Asplenia... OMIM:208540
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Intestinal malrotation, Tracheoesophageal fistula, Aganglionic megacolon, Ana... ORPHA:210122
Short-Rib Thoracic Dysplasia 12
Intrauterine growth retardation, Periportal fibrosis, Low-set ears, Intestinal malrotation, Anenc... OMIM:269860
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Cerebellar hypoplasia, Broad skull, Microtia, Microcephaly, P... ORPHA:163979
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Dandy-Walker malformation, Hydrocephalus, Macrocephaly, Holoprosencephaly OMIM:617967
Combined Immunodeficiency-Enteropathy Spectrum
Hashimoto thyroiditis, Abnormality of the ductus choledochus, Hepatitis, Peritoneal abscess, Hypo... ORPHA:436252
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Cryptorchidism, Small pituitary gland, Hypogonadotropic hypogonadism OMIM:612702
Vacterl With Hydrocephalus
Abnormality of the outer ear, Intrauterine growth retardation, Abnormality of the optic nerve, Cr... ORPHA:3412
Martinez-Frias Syndrome
Intrauterine growth retardation, Intestinal hypoplasia, Intestinal malrotation, Pancreatic hypopl... OMIM:601346
Trisomy 10P
High palate, Absent gallbladder, Abnormality of the ear, Rectovaginal fistula, Intrauterine growt... ORPHA:171929
Meckel Syndrome, Type 1
Accessory spleen, Cryptorchidism, Bile duct proliferation, Cerebellar hypoplasia, Microcephaly, D... OMIM:249000
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Splenomegaly, Hepatomega... ORPHA:567983
Zttk Syndrome
High palate, Absent gallbladder, Bifid uvula, Dysplastic corpus callosum, Intrauterine growth ret... OMIM:617140
Meckel Syndrome, Type 7
Biliary cirrhosis, Hepatosplenomegaly, Portal hypertension, Cholestasis, Pancreatic cysts, Bile d... OMIM:267010
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice OMIM:224100
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Anencephaly, Cleft palate, Hydrocephalus OMIM:614120
Distal Trisomy 5Q
Chorioretinal coloboma, Low-set ears, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Micr... ORPHA:96097
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Anencephaly 2
Cleft of alveolar ridge of maxilla, Anencephaly, Median cleft palate OMIM:619452
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of the outer ear, Absent gallbladder, Atresia of the external auditory canal, Microce... ORPHA:3186
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Anteri... ORPHA:3157
Microhydranencephaly
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Hypoplasia of ... OMIM:605013
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:226307
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Hydranencephaly, Cleft palate OMIM:601355
Tetrasomy 9P
High palate, Absent gallbladder, Glue ear, Bifid uvula, Intrauterine growth retardation, Cryptorc... ORPHA:3310
Meckel Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Pancreatic cysts, Accessory spleen, Cryptorchidi... ORPHA:564
Craniofacioskeletal Syndrome
Absent gallbladder, Intrauterine growth retardation, Cryptorchidism, Cerebellar hypoplasia, Micro... OMIM:300712
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Cleft palate OMIM:614175
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Jaundice, Elevated hepatic transaminase, Cholestatic liver disease, Pancreatitis,... ORPHA:65682
Ring Chromosome 13 Syndrome
High palate, Abnormal retinal morphology, Agenesis of corpus callosum, Anencephaly, Anal atresia,... ORPHA:96176
Trisomy 18
Intrauterine growth retardation, Cryptorchidism, Abnormality of retinal pigmentation, Anencephaly... ORPHA:3380
49,Xxxxy Syndrome
Delayed eruption of teeth, Cryptorchidism, Gastroesophageal reflux, Decreased testicular size, Re... ORPHA:96264
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:79234
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Abnormality of circulating adrenocorti... ORPHA:251623
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Retinal coloboma, Low-set ears, Anencephaly, Hydrocephalus, Polymicrogyria, Cleft palate, Pulmona... OMIM:616546
8P Inverted Duplication/Deletion Syndrome
Agenesis of corpus callosum, Cryptorchidism, Cerebellar hypoplasia, Abnormality of dental eruptio... ORPHA:96092
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Intrauterine growth retardation, Cerebellar hypoplasia, Hydranenceph... OMIM:225790
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Intrahepatic cholestasis, Hepatomegaly, Jaundice OMIM:605479
Non-Acquired Panhypopituitarism
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Anterior pituitary hypoplasia, D... ORPHA:90695
Isolated Exencephaly
Maternal diabetes, Posterior pituitary agenesis, Agenesis of corpus callosum, Anterior pituitary ... ORPHA:563612
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Acromelic Frontonasal Dysplasia
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Cryptorchidism, Hypopituitarism, Hypo... ORPHA:1827
Fryns Syndrome
Chylothorax, Stillbirth, Abnormal helix morphology, Low-set ears, Agenesis of corpus callosum, Cr... OMIM:229850
Distal Monosomy 10Q
Abnormality of the outer ear, High palate, Low-set ears, Cerebellar hypoplasia, Cavum septum pell... ORPHA:96148
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Anterior pituitary hyp... ORPHA:98754
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Anterior pituitary hyp... ORPHA:98793
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Intrauterine growth retardation, Intestinal malrotation, Pancreatic hypoplasi... OMIM:600001
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Anterior pituitary hyp... ORPHA:177904
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Anterior pituitary hyp... ORPHA:177901
Pelvis-Shoulder Dysplasia
Hydrocephalus, Hydranencephaly, Microtia, Microglossia, Spina bifida, Cleft palate, Abnormal pinn... ORPHA:2839
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Elevated hepatic transaminase, C... ORPHA:79301
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Bifid uvula, Gastrointestinal dysmotility, Global brain atrophy, Opti... ORPHA:500150
Caudal Regression Syndrome
Cryptorchidism, Pulmonary hypoplasia, Anal atresia, Arrhinencephaly ORPHA:3027
Alg3-Cdg
High palate, Hypoplasia of the corpus callosum, Abnormality of the gastrointestinal tract, Hypopl... ORPHA:79321
Prader-Willi-Like Syndrome
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Anterior pituitary hyp... ORPHA:398073
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Hepatic failure, Bile duct... OMIM:203700
Cerebrocostomandibular Syndrome
Cerebral calcification, Myelomeningocele, Intrauterine growth retardation, Conductive hearing imp... ORPHA:1393
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Septo-optic dysplasia, Agenesis ... ORPHA:95494
Inflammatory Pseudotumor Of The Liver
Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography, Elevated ... ORPHA:90003
Perlman Syndrome
Low-set ears, Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, High, narrow palate, Po... ORPHA:2849
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Abnormal lung lobation, Rectovaginal fistula, Abnormal cortical gyration, Agenesis... ORPHA:2538
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice OMIM:245550
Iniencephaly
Myelomeningocele, Low-set ears, Anencephaly, Anal atresia, Spinal dysraphism, Dandy-Walker malfor... ORPHA:63259
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Severe hydrocephalus, Stillbirth, Intrauterine growth retardation, Lo... OMIM:236680
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Decreased liver function ORPHA:79278
Alpha-Thalassemia
Cholelithiasis, Hypersplenism, Splenomegaly, Jaundice ORPHA:846
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Hypothyroidism, Reduced circulating pro... OMIM:300888
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Ce... OMIM:301033
Autoimmune Polyendocrinopathy Type 3
Central diabetes insipidus, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Hashimoto thyroi... ORPHA:227982
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Intestinal malrotation, Pancr... ORPHA:2255
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopituitarism, Hashimoto thyroidi... ORPHA:95512
Autoimmune Polyendocrinopathy Type 4
Central diabetes insipidus, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Anterior pituita... ORPHA:227990
22Q11.2 Deletion Syndrome
Small earlobe, Gastrointestinal hemorrhage, Cryptorchidism, Anorectal anomaly, Microcephaly, Spin... ORPHA:567
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Decreased liver function, Elevated hepatic transaminase, Secondary micro... OMIM:618329
Apert Syndrome
Ectopic anus, Bifid uvula, Agenesis of corpus callosum, Delayed eruption of teeth, Sensorineural ... ORPHA:87
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency ORPHA:309108
Pendred Syndrome
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnorm... ORPHA:705
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Occipital encephalocele, Anterior hypopituitarism, Microglossia, Hydrocep... OMIM:241800
Neu-Laxova Syndrome 1
Short umbilical cord, Intrauterine growth retardation, Agenesis of corpus callosum, Cryptorchidis... OMIM:256520
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Cerebral atrophy, Cerebellar hypoplasia, Sensor... OMIM:619273
Deeah Syndrome
Exocrine pancreatic insufficiency, Anterior pituitary hypoplasia, Panhypopituitarism, Cryptorchid... OMIM:619004
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Pigment gallstones OMIM:613470
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Pigmentary retinopathy, Hemat... OMIM:301068
Erythrocytosis, Familial, 8
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:222800
D-Bifunctional Protein Deficiency
Cerebral dysmyelination, Hepatic steatosis, Primary adrenal insufficiency, Hypoplasia of the corp... OMIM:261515
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Congenital pyloric atresia, Macrocephaly, Microtia OMIM:612138
Acrofacial Dysostosis, Rodríguez Type
Aqueductal stenosis, Microtia, Intrauterine growth retardation, Arrhinencephaly ORPHA:1788
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Bile duct proliferation, Polycystic liver disease, Jaundice, Pancreatic fibrosi... OMIM:208500
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Anterior hypopituitarism, Increased circulating prolactin concentration, Neop... ORPHA:91351
Biliary Malformation With Renal Tubular Insufficiency
Biliary hyperplasia, Jaundice OMIM:210550
Thyroid Hormone Resistance, Selective Pituitary
Hyperthyroidism, Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulatin... OMIM:145650
Holoprosencephaly 9
Abnormal cortical gyration, Anterior pituitary hypoplasia, Cryptorchidism, Panhypopituitarism, Mi... OMIM:610829
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Hypogonadotropic hypogonadism, Agenesis of corpus callosum, Anterior pitu... OMIM:206900
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Anal atresia, Sirenomelia, Spinal dysraphism ORPHA:63260
Cousin Syndrome
Microtia, first degree, Hydranencephaly, Microglossia, Hydrocephalus, Cleft palate OMIM:260660
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Diabetes insipidus, Panhypopituitarism, Hypopituitarism, Anterior ... ORPHA:91350
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:235700
14Q22Q23 Microdeletion Syndrome
Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Anterior pituitary hypoplasia... ORPHA:264200
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:266200
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice OMIM:182900
Charge Syndrome
Cryptorchidism, Aplasia of the semicircular canal, Microcephaly, Dysphagia, Decreased response to... OMIM:214800
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, High palate, Recurrent upper respiratory tract infections, Cryptorchidism, Microc... OMIM:300534
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Cerebral atrophy, Hepatic failure, Microcephaly, Elevated hepatic transaminase, H... OMIM:614886
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Portal hypertension, Hepatosplenomegaly, Periportal fibrosis, Cholestasis, Cholan... ORPHA:731
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Female hypogonadism, Pigmentary retinopathy, Hypoparathyroidism, Asplenia, Chroni... OMIM:240300
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 level, Hyperthyroidism OMIM:603373
Dubin-Johnson Syndrome
Biliary tract abnormality, Abnormality of the liver, Hepatomegaly, Jaundice ORPHA:234
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Th... OMIM:301035
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Hyperintensity of cerebral white matte... ORPHA:512
Dyrk1A-Related Intellectual Disability Syndrome
Anterior pituitary hypoplasia, Cryptorchidism, Primary microcephaly, Microcephaly, Cerebral corti... ORPHA:464306
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Joubert Syndrome 38
Small pituitary gland, Decreased response to growth hormone stimulation test, Ectopic posterior p... OMIM:619476
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cupped ear, Bifid uvula, Low-set ears, Gastroesophageal reflux, Partial agenesis of the corpus ca... OMIM:619480
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Microcephaly, Cerebral cortical atr... ORPHA:177907
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Prolonged neonatal jaundice, Portal hypertension OMIM:604901
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Jacobsen Syndrome
Chorioretinal coloboma, Intrauterine growth retardation, Low-set ears, Cryptorchidism, Microcepha... OMIM:147791
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Limb Body Wall Complex
Short umbilical cord, Abnormality of the liver, Myelomeningocele, Anencephaly, Spina bifida, Abno... ORPHA:2369
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Triploidy
Abnormality of the pancreas, Intrauterine growth retardation, Abnormality of the gallbladder, Cry... ORPHA:3376
Waardenburg Syndrome, Type 2E
Anosmia, Hypopigmentation of the fundus, Aplasia of the semicircular canal, Sensorineural hearing... OMIM:611584
Myotonic Dystrophy 1
Cholelithiasis, Cerebral atrophy, Testicular atrophy, Dysphagia, Facial diplegia OMIM:160900
Glycogen Storage Disease Xii
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Delayed puberty OMIM:611881
Thoracoabdominal Syndrome
Anencephaly, Cleft palate, Pulmonary hypoplasia, Hydrocephalus OMIM:313850
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Acholic sto... ORPHA:1414
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Serrated Polyposis Syndrome
Colorectal polyposis, Neoplasm of the large intestine, Biliary tract neoplasm, Ovarian neoplasm, ... ORPHA:157798
Ppoma
Cholelithiasis, Intestinal carcinoid, Abnormality of the thyroid gland, Primary hyperparathyroidi... ORPHA:97278
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice OMIM:232800
Czeizel-Losonci Syndrome
Hydrocephalus, High palate, Myelomeningocele, Tracheoesophageal fistula, Low-set, posteriorly rot... ORPHA:2437
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, Portal hypertensi... OMIM:619534
Microphthalmia With Limb Anomalies
Large earlobe, High palate, Cryptorchidism, Low-set, posteriorly rotated ears, Cleft palate, Hydr... ORPHA:1106
Matthew-Wood Syndrome
Intrauterine growth retardation, Low-set ears, Cryptorchidism, Abnormal spleen morphology, Duoden... ORPHA:2470
Pallister-Hall Syndrome
Hypothalamic hamartoma, Abnormal corpus callosum morphology, Bifid uvula, Cryptorchidism, Panhypo... ORPHA:672
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism,... ORPHA:398079
Doors Syndrome
High palate, Low-set ears, Gastroesophageal reflux, Atresia of the external auditory canal, Siren... ORPHA:79500
Aicardi-Goutières Syndrome
Cerebral calcification, Hepatosplenomegaly, Degeneration of the striatum, Low-set ears, Porenceph... ORPHA:51
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Intrauterine growth retardation, Low-set ears, Cryptorchidism, Pancreatic hypopla... ORPHA:83617
Hydrocephalus With Associated Malformations
Intestinal malrotation, Intrauterine growth retardation, Pulmonary hypoplasia, Hydrocephalus OMIM:236640
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Panhypopit... ORPHA:91355
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Igg4-Related Thyroid Disease
Hypothyroidism, Sclerosing cholangitis, Thyrotoxicosis with diffuse goiter, Euthyroid goiter, Has... ORPHA:64744
Branchiootorenal Syndrome 1
Branchial cyst, High palate, Cupped ear, Incomplete partition of the cochlea type II, Euthyroid g... OMIM:113650
Beta-Thalassemia
Cholelithiasis, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Hepatitis ORPHA:848
Bohring-Opitz Syndrome
Cholelithiasis, Intrauterine growth retardation, Agenesis of corpus callosum, Retinal atrophy, Lo... ORPHA:97297
Bohring-Opitz Syndrome
Intrauterine growth retardation, Low-set ears, Abnormality of the optic nerve, Agenesis of corpus... OMIM:605039
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, High palate, Abnormal corpus callosum morphology, Cerebral atrophy, Gastroesophag... OMIM:618268
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Hepatomegaly ORPHA:586
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Neonatal death, Posteriorly rotated ears, Pulmonary hypoplasia OMIM:224410
Sialuria
Cholelithiasis, Hepatosplenomegaly, Low-set ears, Hepatomegaly, High, narrow palate, Elevated hep... ORPHA:3166
Craniopharyngioma
Central diabetes insipidus, Abnormal hypothalamus morphology, Cerebral calcification, Hypogonadot... ORPHA:54595
Grfoma
Cholelithiasis, Intestinal carcinoid, Gastrointestinal hemorrhage, Zollinger-Ellison syndrome, Pr... ORPHA:97261
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Craniofacial Dyssynostosis With Short Stature
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cryptorchidism, Abnormal location... OMIM:218350
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Hypoplasia of the corpus callosum, Hepatosplenomegaly, Gastric ulcer, Sensorineur... ORPHA:2072
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Congenital pyloric atresia, Microcephaly, Low-set, posteriorly rotated ears ORPHA:2617
Cerebrotendinous Xanthomatosis
Cholelithiasis, Abnormality of somatosensory evoked potentials, Global brain atrophy, Optic neuro... ORPHA:909
Atelosteogenesis Type I
Malrotation of colon, Low-set ears, Retinal dysplasia, Abnormal pancreatic duct morphology, Cleft... ORPHA:1190
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Hematochezia, Pigmentary retinopathy, Giant cell hepatitis, Elevated hepatic tran... ORPHA:79095
Bronchogenic Cyst
Abnormal stomach morphology, Bronchogenic cyst, Pneumonia, Abnormal pleura morphology, Pulmonary ... ORPHA:2357
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Primary gonadal insufficiency, Delayed puberty, Cryptorchidism, Decreased ... ORPHA:2232
Cranioectodermal Dysplasia 2
Biliary cirrhosis, Cholestasis, Cholangitis, Bile duct proliferation, Splenomegaly, Hepatomegaly,... OMIM:613610
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Cerebral atrophy, Recurrent pneumonia, Agenesis of corpus callosum, Low-set ears,... ORPHA:464738
Yunis-Varon Syndrome
Abnormal pinna morphology, Agenesis of corpus callosum, Low-set ears, Cryptorchidism, Cerebellar ... ORPHA:3472
Lathosterolosis
High palate, Cerebral atrophy, Myelomeningocele, Hepatosplenomegaly, Conductive hearing impairmen... OMIM:607330
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Overfolded helix, Abnormal lung lobation, Cleft palate, Pulmon... ORPHA:2631
Crouzon Syndrome
Cerebellar hypoplasia, Conductive hearing impairment, Narrow internal auditory canal, Hydrocephal... ORPHA:207
Jacobsen Syndrome
Ectopic anus, Cerebral atrophy, Intrauterine growth retardation, Agenesis of corpus callosum, Cry... ORPHA:2308
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Hepatitis OMIM:194380
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hypopituitarism, Increased circulating prolactin concentration, Adren... ORPHA:91354
Prader-Willi Syndrome
Small pituitary gland, Premature pubarche, Central hypothyroidism, Cryptorchidism, Abnormal cereb... ORPHA:739
Feingold Syndrome
Sensorineural hearing impairment, Esophageal atresia, External ear malformation, Microcephaly, Ab... ORPHA:1305
Ulnar-Mammary Syndrome
Anterior pituitary hypoplasia, Hypoplastic nipples, Axillary apocrine gland hypoplasia, Delayed p... OMIM:181450
Myopathy, Centronuclear, X-Linked
High palate, Cryptorchidism, Decreased liver function, Pyloric stenosis, Hydrocephalus, Facial pa... OMIM:310400
Tropical Pancreatitis
Jaundice, Pancreatic calcification, Abnormal pancreatic duct morphology, Pancreatic adenocarcinom... ORPHA:103918
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cerebral calcification, Cerebral atrophy, Hepatic steatosis, Portal hypertension, Cholestasis, Bi... OMIM:613658
Hydranencephaly
Atrophic pituitary gland, Dysgenesis of the thalamus, Hypoplastic hippocampus, Primary microcepha... ORPHA:2177
Lowry-Maclean Syndrome
Abnormality of the abdominal organs, Intrauterine growth retardation, Low-set ears, Aplasia/Hypop... ORPHA:2409
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Cholecystitis, Biliary tract neoplasm, Extrahepatic cholestasis, Inter... ORPHA:100086
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Premature pubarche, Central hypothyroidism, Cryptorchidism, Precocious pub... ORPHA:398069
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Cerebral cortical atrophy, Abnormal co... ORPHA:231169
Charge Syndrome
Abnormal cranial nerve morphology, Cryptorchidism, Microcephaly, Dandy-Walker malformation, Cleft... ORPHA:138
Thanatophoric Dysplasia
Intrauterine growth retardation, Low-set ears, Hearing impairment, Hydrocephalus, Macrocephaly, P... ORPHA:2655
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Cerebellar hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas, Low-set ears ORPHA:65288
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Vestibular dysfunction, Caudate atrophy, Prelingu... ORPHA:52368
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Low-set ears, Lissencephaly, Macrogyria, Exencephaly, Pachygyria, Pos... ORPHA:2211
Dextrocardia
Aplasia/Hypoplasia of the ear, Abnormal pulmonary situs morphology, Intestinal malrotation, Pancr... ORPHA:1666
Triosephosphate Isomerase Deficiency
Cholelithiasis, Cerebral atrophy, Cholecystitis, Death in adolescence, Splenomegaly, Jaundice, Op... OMIM:615512
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Cholesterol gallstones, Acute hepatic steatosis, Hepatitis, Macro... ORPHA:209902
Marden-Walker Syndrome
High palate, Intrauterine growth retardation, Low-set ears, Agenesis of corpus callosum, Cryptorc... OMIM:248700
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Intestinal malrotation, Low-set ears, Testicular atrophy OMIM:601163
Cystic Echinococcosis
Eosinophilia, Abnormality of the testis size, Abnormality of the pancreas, Biliary tract obstruct... ORPHA:400
Beta-Thalassemia Intermedia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Abnormality of the liver, Hepatosplenomega... ORPHA:231222
Myxedema
Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Primary Sclerosing Cholangitis
Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ulcerative colitis, Cholelithi... ORPHA:171
Cerebrotendinous Xanthomatosis
Cholelithiasis, Cerebral atrophy, Optic disc pallor, Abnormal periventricular white matter morpho... OMIM:213700
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Anterior pituitary hypoplasia, Cryptorchidism, Supernumerary nipple, ... ORPHA:466791
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ileus, Cerebral dysmyelination, Cerebral atrophy, Anosmia, Hepatosplenomegaly, Portal hypertensio... OMIM:609136
Acrocephalopolydactylous Dysplasia
Low-set ears, Hypoplastic colon, Extrapulmonary sequestrum, Hepatomegaly, Pancreatic fibrosis, Po... OMIM:200995
Congenital Disorder Of Glycosylation, Type Iiw
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Bile duct prolife... OMIM:619525
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Lissencephaly, Abnormal stomach morphology, Testicular seminoma ORPHA:281090
Fg Syndrome Type 1
Cryptorchidism, Small pituitary gland, Aplasia/Hypoplasia of the corpus callosum ORPHA:93932
Fanconi Anemia, Complementation Group Q
Microcephaly, Biliary atresia OMIM:615272
Non-Functioning Pituitary Adenoma
Diabetes insipidus, Panhypopituitarism, Central adrenal insufficiency, Adrenocorticotropic hormon... ORPHA:91349
Zellweger Syndrome
High palate, Hepatic failure, Cryptorchidism, Sensorineural hearing impairment, Hepatomegaly, Jau... ORPHA:912
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Cerebral calcification, Intrauterine growth retardation, Intestinal malrotation, Splenomegaly, Aq... ORPHA:3035
Scleroderma
Abnormal stomach morphology, Cerebral atrophy, Barrett esophagus, Abnormality of the gastrointest... ORPHA:801
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Absent uvula, Cerebellar hypoplasia, Perisylvian polymicrogyria, Pulmonary hypoplasia, Cerebellar... OMIM:616531
Schinzel-Giedion Syndrome
Abnormality of the outer ear, Hepatoblastoma, Macroglossia, Abnormality of the stapes, Dysphagia,... ORPHA:798
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Recurrent otitis media, Hepatosplenomegaly, Cholecystitis, Hepatomegaly, Posterio... OMIM:301066
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Lobulated tongue, Cerebellar hypoplasia, Relative macrocephaly, Anal atresia, Dan... OMIM:616300
Genitopalatocardiac Syndrome
Intrauterine growth retardation, Low-set ears, Abnormality of the gallbladder, Cryptorchidism, Mi... ORPHA:2075
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Abnormal cortical gyration, Hypoplastic nipples, Cyst of the ductus choledochus, Abnormal thyroid... ORPHA:480880
Agnathia-Otocephaly Complex
Aglossia, Agenesis of corpus callosum, Low-set ears, Conductive hearing impairment, Microglossia,... OMIM:202650
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased circulating androgen concentration, Decreased circula... ORPHA:293978
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, High, narrow palate, Macroglossia, Pig... OMIM:214100
Dyssegmental Dysplasia, Silverman-Handmaker Type
Low-set ears, Cryptorchidism, Miscarriage, Microcephaly, Posteriorly rotated ears, Hydrocephalus,... ORPHA:1865
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Abnormal cranial nerve morphology, Agenesis of corpus callosum, Low-set, posteriorly rotated ears... ORPHA:990
Fetal Akinesia Deformation Sequence
Intrauterine growth retardation, Intestinal hypoplasia, Cryptorchidism, Dandy-Walker malformation... ORPHA:994
Yunis-Varon Syndrome
Small earlobe, Cryptorchidism, Cerebellar hypoplasia, Microcephaly, Protruding ear, Cerebellar ve... OMIM:216340
Trisomy 18P
Intrauterine growth retardation, High, narrow palate, Microcephaly, Pyloric stenosis, Bilateral c... ORPHA:1715
Tsh-Secreting Pituitary Adenoma
Hypogonadotropic hypogonadism, Female hypogonadism, Euthyroid hyperthyroxinemia, Thyroid crisis, ... ORPHA:91347
Distal Tetrasomy 15Q
High palate, Cupped ear, Abnormal helix morphology, Low-set ears, Intrauterine growth retardation... ORPHA:314588
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Pr... ORPHA:79303
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Diabetes mellitus, Pancreatitis, Pan... OMIM:167800
Holoprosencephaly 2
Diabetes insipidus, Agenesis of corpus callosum, Adrenal hypoplasia, Microcephaly, Anterior pitui... OMIM:157170
Gillessen-Kaesbach-Nishimura Syndrome
Low-set ears, Periportal fibrosis, Microcephaly, Posteriorly rotated ears, Large fleshy ears, Abn... OMIM:263210
Fanconi Anemia, Complementation Group D2
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Low-set ears, Cryptorchidism, Tra... OMIM:227646
Pendred Syndrome
Goiter, Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Sensorineural hearing impairment, Hyperechogenic pancreas, Hep... ORPHA:456312
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Bran... OMIM:602588
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Intrauterine growth retardation, Papilledema OMIM:618775
Griscelli Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Hepatitis, Pyloric stenosis, Hydrocephalus, Encephalocele ORPHA:381
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Congenital stationary ... ORPHA:90646
Branchiogenic Deafness Syndrome
Branchial cyst, Mixed hearing impairment, Underdeveloped tragus, Conductive hearing impairment, S... ORPHA:50815
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, High palate, Low-set ears, Hyperechogenic pancreas, Hepatomega... OMIM:617941
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Submucous cleft hard palate, Holoprosencephaly, Cleft palate, Pulmonary hypoplasia ORPHA:250999
Isotretinoin-Like Syndrome
Intrauterine growth retardation, Gastroesophageal reflux, Atresia of the external auditory canal,... ORPHA:2306
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Periportal fibrosis, Pancreatic cysts, Splenomegaly, Hepatomegaly, Esophagea... OMIM:263200
Gangliocytoma
Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Pituitary prolactin cell adenoma... ORPHA:251937
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Portal hypertension, Gastrointestinal hemorrhage, Periportal ... ORPHA:64743
Raine Syndrome
Cerebral calcification, High palate, Mixed hearing impairment, Low-set ears, Microcephaly, Natal ... OMIM:259775
Feingold Syndrome 1
High palate, Accessory spleen, Low-set ears, Tracheoesophageal fistula, Esophageal atresia, Micro... OMIM:164280
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Autosomal Recessive Multiple Pterygium Syndrome
Hearing abnormality, High palate, Morphological abnormality of the gastrointestinal tract, Pulmon... ORPHA:2990
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Cryptorchidism, Microcephaly, Dysphagia, Pulmonary hypoplasia, Decr... OMIM:300978
Aceruloplasminemia
Retinal degeneration, Abnormality of retinal pigmentation, Abnormal pancreas morphology, Elevated... ORPHA:48818
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating aldos... ORPHA:171876
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Hypoplastic anterior commissure, Intrauterine growth retardation, Low-set ears, Cryp... OMIM:616975
Pagod Syndrome
Pulmonary hypoplasia, Pulmonary artery hypoplasia, Microcephaly, Spina bifida, Abnormality of the... ORPHA:991
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Agenesis of corpus callosum, Low-set ears, Elevated circulating luteinizing hormone level, Sensor... OMIM:618419
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Low-set ears, Pyloric stenosis, Macrotia, Bilateral cryptorchidism ORPHA:314575
Meningioma
Focal T2 hypointense thalamic lesion, Hypogonadotropic hypogonadism, Decreased circulating follic... ORPHA:2495
Tetrasomy 5P
High palate, Low-set ears, Cerebellar hypoplasia, Pericallosal lipoma, Recurrent respiratory infe... ORPHA:3309
Peters-Plus Syndrome
Hydrocephalus, Cerebral atrophy, Intrauterine growth retardation, Low-set ears, Agenesis of corpu... OMIM:261540
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Pulmonary hypoplasia, Protruding ear OMIM:617468
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebral calcification, Bifid uvula, Intrauterine growth retardation,... ORPHA:2671
Sickle Cell Anemia
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice OMIM:603903
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Progressive microcephaly, Sensorineural hearing impairment, Hepatomegaly, Micr... OMIM:616263
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:619479
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Type II diabetes mellitus ORPHA:3191
Primary Hepatic Neuroendocrine Carcinoma
Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Neoplasm of the liver... ORPHA:100085
Distal Monosomy 12Q
Unilateral cryptorchidism, Low-set ears, Prominent ear helix, Microtia, High, narrow palate, Esop... ORPHA:96149
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Portal hypertension, Intrauterine growth retardation, Pancreatic cysts, Cholestasi... OMIM:610199
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, High palate, Intrauterine growth retardation, Cryptorchidism, Cerebellar hy... OMIM:208150
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Cochlear aplasia... OMIM:619274
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Cryptorchidism, Pulmonary artery atresia, Macrocephaly, Pulmonary hypoplasia OMIM:618316
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Retinal detachment, Hearing impairment, Pulmonary hypoplasia ORPHA:93296
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Portal hypertension, Gastrointestinal hemorrhage, Cholecystitis,... ORPHA:774
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Intrauterine growth retardation, Low-set ears, Splenomegaly,... OMIM:608013
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Intrauterine growth retardation, Primary microcephaly, Rod-cone dystrophy, Cleft palate, Annular ... ORPHA:488642
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Cerebellar hypoplasia, Pulmonary hypoplasia OMIM:615228
Bor Syndrome
Branchial cyst, Hearing impairment, Atresia of the external auditory canal, Enlarged cochlear aqu... ORPHA:107
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Microglossia, Pachygyria, Pancreatic fibrosis, Retin... OMIM:263520
Digeorge Syndrome
Cholelithiasis, High palate, Hepatic steatosis, Recurrent otitis media, Bifid uvula, Recurrent pn... OMIM:188400
Giant Axonal Neuropathy
Abnormality of the pituitary gland ORPHA:643
Intellectual Developmental Disorder, Autosomal Dominant 35
Pyloric stenosis, Macrocephaly, Intrauterine growth retardation, Hydrocephalus OMIM:616355
Smith-Lemli-Opitz Syndrome
Recurrent otitis media, Cryptorchidism, Gastrointestinal dysmotility, Microcephaly, Dandy-Walker ... OMIM:270400
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, High palate, Hydrocephalus OMIM:618162
Hereditary Elliptocytosis
Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Jaundice ORPHA:288
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Decreased circulating T4 level, Prolonged neonata... ORPHA:226316
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Abnormal lung lobation, Low-set ears, Intestinal malrotation, Pulmonary artery dilatation, Trache... OMIM:265380
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hypothalamic hamartoma, Ovarian cyst, Hamartoma of tongue, Microcepha... OMIM:311200
Noonan Syndrome
High palate, Cryptorchidism, Sensorineural hearing impairment, Aplasia of the semicircular canal,... ORPHA:648
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Abnormality of the thyroid gland, Jaundi... ORPHA:186
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia OMIM:619003
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent pneumonia, Recurrent viral upper respiratory tract infections, ... OMIM:615577
Xq21 Microdeletion Syndrome
Optic atrophy, Conductive hearing impairment, Chorioretinal degeneration, Sensorineural hearing i... ORPHA:1435
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Cholestasis ORPHA:232
Fryns Syndrome
High palate, Ectopic anus, Agenesis of corpus callosum, Cryptorchidism, Intestinal malrotation, G... ORPHA:2059
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Intrauterine growth retardation, Low-set ears, Cerebellar hypoplasia, Pleural effusion, Microceph... OMIM:616897
Atelosteogenesis, Type Ii
Death in infancy, Cleft palate, Pulmonary hypoplasia, Stillbirth OMIM:256050
Tropical Calcific Pancreatitis
Pancreatic calcification, Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Renal-Hepatic-Pancreatic Dysplasia 2
Cholestasis, Hepatomegaly, Asplenia, Hepatic fibrosis, Stillbirth, Pulmonary hypoplasia OMIM:615415
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Pulmonary hypoplasia OMIM:614096
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatoblastoma, Pseudohypoparathyroidism, Cryptorchidism, Abno... ORPHA:116
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Interstitial emphysema, Cerebellar hypoplasia, Hyperintensity of cerebral w... OMIM:619708
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Meier-Gorlin Syndrome 7
High palate, Progressive microcephaly, Anal stenosis, Cryptorchidism, Microtia, Anal atresia, Duo... OMIM:617063
Genitopatellar Syndrome
Agenesis of corpus callosum, Low-set ears, Delayed eruption of teeth, Cryptorchidism, Gastroesoph... ORPHA:85201
Congenital Tracheal Stenosis
Abnormal stomach morphology, Morphological abnormality of the gastrointestinal tract, Tracheoesop... ORPHA:141127
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
High palate, Cerebral atrophy, Cupped ear, Low-set ears, Anal stenosis, Gastroesophageal reflux, ... OMIM:614080
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Intrauterine growth retardation, Hearing impairment OMIM:616733
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Impaired sensitivity to thyroid stimulating hormone, Congenita... ORPHA:90673
Familial Adenomatous Polyposis
Colorectal polyposis, Hepatoblastoma, Neoplasm of the gastrointestinal tract, Biliary tract obstr... ORPHA:733
Tarp Syndrome
Tongue nodules, Abnormal corpus callosum morphology, Prominent antihelix, Small earlobe, Intraute... ORPHA:2886
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abnormality of t... ORPHA:485405
Hereditary Spherocytosis
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:822
Williams Syndrome
Cryptorchidism, Colonic diverticula, Macroglossia, Rectal prolapse, Microcephaly, Protruding ear,... ORPHA:904
Smith-Lemli-Opitz Syndrome
Biparietal narrowing, Advanced eruption of teeth, Intrauterine growth retardation, Abnormality of... ORPHA:818
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Low-set ears, Meckel diverticulum, Natal tooth, Pyloric stenosis... OMIM:616395
Pearson Syndrome
Exocrine pancreatic insufficiency, Hypoplastic spleen, Hepatic steatosis, Hepatic failure, Abnorm... ORPHA:699
Microphthalmia, Syndromic 12
Cryptorchidism, Pulmonary hypoplasia OMIM:615524
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Recurrent otitis media, Bifid uvula, Intrauterine growth retardation, Cryptorchidism... ORPHA:96184
Opitz-Kaveggia Syndrome
Postnatal macrocephaly, Microtia, first degree, Anal stenosis, Cryptorchidism, Sensorineural hear... OMIM:305450
Diaphanospondylodysostosis
Intrauterine growth retardation, Low-set ears, Abnormal liver lobulation, Polymicrogyria, Cleft p... OMIM:608022
Joubert Syndrome 21
Retinopathy, Occipital encephalocele, Sensorineural hearing impairment, Hypoplasia of the brainst... OMIM:615636
Chronic Granulomatous Disease
Tracheoesophageal fistula, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Otitis m... ORPHA:379
X-Linked Non-Syndromic Intellectual Disability
Delayed eruption of teeth, Meckel diverticulum, Mild neurosensory hearing impairment, Pyloric ste... ORPHA:777
Senior-Boichis Syndrome
Portal hypertension, Hepatosplenomegaly, Cholestasis, Reduced number of intrahepatic bile ducts, ... ORPHA:84081
Systemic Sclerosis
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, ... ORPHA:90291
Thymic Aplasia With Fetal Death
Stillbirth, Pulmonary hypoplasia OMIM:274210
Otopalatodigital Syndrome Type 2
Hydrocephalus, Myelomeningocele, Low-set ears, Hearing impairment, Cerebellar hypoplasia, Glossop... ORPHA:90652
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Supernumerary nipple, Microcephaly, Pyloric stenosis, Macrocephaly... ORPHA:1001
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Renal Tubular Dysgenesis
Microcephaly, Pulmonary hypoplasia ORPHA:3033
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia/Hypoplasia involving the central nervous system, Mild intrauterine growth retardation, Pu... OMIM:308050
Microcephaly-Micromelia Syndrome
Intrauterine growth retardation, Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Microce... OMIM:251230
Mosaic Trisomy 1
Agenesis of corpus callosum, Low-set ears, Hepatic agenesis, Cerebellar hypoplasia, Pulmonary art... ORPHA:1692
Fraser Syndrome 1
Pulmonary hypoplasia, Abnormal cortical gyration, Cupped ear, Myelomeningocele, Low-set ears, Cry... OMIM:219000
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatomegaly, Hepatic periportal necrosis, Jaundice, Pachygyria, Neonatal deat... OMIM:231680
Kleefstra Syndrome
Advanced eruption of teeth, Agenesis of corpus callosum, Delayed eruption of teeth, Cryptorchidis... ORPHA:261494
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Renal Agenesis, Bilateral
Low-set ears, Tracheoesophageal fistula, Sirenomelia, Abnormal intestine morphology, Cleft palate... ORPHA:1848
Primary Pulmonary Hypoplasia
Intrauterine growth retardation, Low-set ears, Microcephaly, Recurrent respiratory infections, Pn... ORPHA:2257
Metachromatic Leukodystrophy, Adult Form
Cholecystitis, Decreased nerve conduction velocity, Neoplasm of the gallbladder, Bilateral sensor... ORPHA:309271
Igg4-Related Submandibular Gland Disease
Eosinophilia, Abnormal salivary gland morphology, Cholangitis, Enlarged lacrimal glands, Abnormal... ORPHA:449432
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Delayed puberty, Decreased circulating ACTH l... ORPHA:2965
Intrinsic Factor Deficiency
Absence of intrinsic factor, Malabsorption OMIM:261000
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Biliary tract abnormality, Cholangitis OMIM:209920
Tetraamelia Syndrome 1
Low-set ears, Adrenal gland agenesis, Anal atresia, Peripheral pulmonary vessel aplasia, Asplenia... OMIM:273395
Fraser Syndrome
Pulmonary hypoplasia, High palate, Ectopic anus, Myelomeningocele, Abnormal lung lobation, Anal s... ORPHA:2052
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Posterior pituitary hypoplasia, Abnormality of the anterior pituitary ORPHA:75389
Neurofibroma
Recurrent otitis media, Abnormal cranial nerve morphology, Neoplasia of the pleura, Neoplasm of t... ORPHA:252183
Orofaciodigital Syndrome Type 4
Abnormality of the outer ear, Bifid uvula, High, narrow palate, Microcephaly, Cleft palate, Decre... ORPHA:2753
Gorham-Stout Disease
Abnormality of the internal auditory canal, Pleural effusion, Hearing impairment ORPHA:73
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Low-set ears, Intestinal malrotation, Pyloric stenosis, Intestinal pseudo-obstruction, Congenital... OMIM:300048
Duane Retraction Syndrome
Chorioretinal coloboma, Sensorineural hearing impairment, Optic disc hypoplasia, Anorectal anomal... ORPHA:233
1P36 Deletion Syndrome
Hepatic steatosis, Abnormality of the liver, Agenesis of corpus callosum, Cryptorchidism, Conduct... ORPHA:1606
Minicore Myopathy With External Ophthalmoplegia
Facial palsy, Recurrent respiratory infections, Pulmonary hypoplasia, High palate OMIM:255320
Knobloch Syndrome 1
Occipital meningocele, Cerebral atrophy, Vitreoretinopathy, Occipital encephalocele, Peripapillar... OMIM:267750
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal, Pyloric stenosis OMIM:133705
Fontaine Progeroid Syndrome
Cryptorchidism, Cerebellar hypoplasia, High, narrow palate, Microcephaly, Death in infancy, Cereb... OMIM:612289
Treacher-Collins Syndrome
High palate, Rectovaginal fistula, Cryptorchidism, Conductive hearing impairment, Tracheoesophage... ORPHA:861
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Abnormal corpus callosum morphology, Low-set ears, Cavum septum pellucidum, Supernum... ORPHA:457279
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death, Pulmonary hypoplasia OMIM:253310
Cornelia De Lange Syndrome 1
Hiatus hernia, Abnormal incisura morphology, High palate, Malrotation of colon, Pneumonia, Intrau... OMIM:122470
Alveolar Echinococcosis
Eosinophilia, Biliary cirrhosis, Portal hypertension, Pancreatic cysts, Cholangitis, Decreased li... ORPHA:284
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Intermittent jaundice, Splenomegaly ORPHA:3202
Apert Syndrome
Ectopic anus, Bifid uvula, Agenesis of corpus callosum, Delayed eruption of teeth, Cryptorchidism... OMIM:101200
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Craniofacial asymmetry, Intrauterine growth retardatio... ORPHA:1708
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Dysphagia, Pulmonary hypoplasia OMIM:616867
Rothmund-Thomson Syndrome, Type 2
High palate, Prominent antihelix, Delayed eruption of teeth, Underfolded helix, Cryptorchidism, O... OMIM:268400
Gaucher Disease Type 1
Biliary tract obstruction, Delayed puberty, Splenomegaly, Hepatomegaly, Cirrhosis, Hypersplenism ORPHA:77259
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Abnormality of the basal ganglia, Intrauterine growth retardation, Cerebellar hypoplasia, Microce... ORPHA:86822
Harrod Syndrome
High palate, Malrotation of small bowel, Cryptorchidism, Aganglionic megacolon, High, narrow pala... OMIM:601095
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration, Intrauterine growth retardation, Miscarriage, Bilateral cryptorchidism, Res... ORPHA:96179
Steinert Myotonic Dystrophy
Cholelithiasis, Colon cancer, Abnormality of the tongue muscle, Oral-pharyngeal dysphagia, Facial... ORPHA:273
Saethre-Chotzen Syndrome
Low-set ears, Cryptorchidism, Prominent crus of helix, Conductive hearing impairment, Sensorineur... ORPHA:794
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Cherry red spot of the macula, Hepatic failure, Decreased liver function, Splenom... ORPHA:77293
Knobloch Syndrome
Abnormal vitreous humor morphology, Vitreoretinopathy, Occipital encephalocele, Retinal detachmen... ORPHA:1571
Koolen-De Vries Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, High, narrow palate, Microcephaly, Ove... ORPHA:96169
Peutz-Jeghers Syndrome
Precocious puberty with Sertoli cell tumor, Biliary tract abnormality, Ovarian cyst, Neoplasm of ... OMIM:175200
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia, Intrauterine growth retardation, Low-set ears, Cleft palate OMIM:312150
Cat Eye Syndrome
Biliary atresia OMIM:115470
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatic failure, Macronodular cirrhosis, Hepatomegaly, Death i... OMIM:557000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Macrocephaly, Pulmonary hypoplasia, Pancreatic fibrosis OMIM:615503
Greenberg Dysplasia
Abnormal lung lobation, Hepatosplenomegaly, Low-set ears, Pancreatic islet-cell hyperplasia, Hepa... OMIM:215140
Esophageal Atresia
Pulmonary hypoplasia, Morphological abnormality of the gastrointestinal tract, Abnormality of the... ORPHA:1199
Reynolds Syndrome
Gastroesophageal reflux, Hepatomegaly, Jaundice, Abnormal gastric mucosa morphology, Dysphagia, C... ORPHA:779
Severe Congenital Nemaline Myopathy
Low-set ears, Dysphagia, Facial palsy, Facial diplegia, Pulmonary hypoplasia ORPHA:171430
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Intrauterine growth retardation, Low-set ears, Adrenal gland agenesis, Bilateral lung agenesis, P... OMIM:611812
Distal Renal Tubular Acidosis
Enlarged vestibular aqueduct, Sensorineural hearing impairment ORPHA:18
Multiple Pterygium Syndrome, Escobar Variant
High palate, Low-set ears, Cryptorchidism, Conductive hearing impairment, Hypoplastic nipples, Um... OMIM:265000
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia, Intrauterine growth retardation, Low-set ears, Cleft palate OMIM:253290
Alg9-Cdg
Cerebral atrophy, Bifid uvula, Progressive microcephaly, Periportal fibrosis, Low-set ears, Gastr... ORPHA:79328
Campomelia, Cumming Type
Abnormality of the pancreas, Pancreatic cysts, Hepatomegaly, Abnormal intestine morphology, Death... ORPHA:1318
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Intrauterine growth retardation, Tracheoesophageal... ORPHA:958
Renal Dysplasia-Limb Defects Syndrome
High palate, Intrauterine growth retardation, Low-set ears, Cryptorchidism, Pneumothorax, Neonata... OMIM:266910
Kagami-Ogata Syndrome
Pulmonary hypoplasia, Splenomegaly, Hepatomegaly, Microtia OMIM:608149
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Distal 22Q11.2 Microdeletion Syndrome
Intrauterine growth retardation, Sensorineural hearing impairment, High, narrow palate, Microceph... ORPHA:261330
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Hepatic steatosis, Portal hypertension, Hepatosplenomegaly, Cholestasis, C... OMIM:619503
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Relative macrocephaly, Low-set ears OMIM:617895
Odontochondrodysplasia 1
Delayed eruption of teeth, Relative macrocephaly, Recurrent respiratory infections, Death in infa... OMIM:184260
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Pulmonary hypoplasia ORPHA:1486
Oligomeganephronia
Branchial cyst, Hearing impairment, Pulmonary venous occlusion, Optic disc coloboma, Pulmonary hy... ORPHA:2260
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Jaundice, Elevated hepatic transa... ORPHA:93111
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Hepatosplenomegaly, Pancreatic cysts, Cerebellar hypoplasia, Cavum septum pellucidu... OMIM:274000
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia, Cleft palate, Low-set ears ORPHA:85166
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly, Pyloric stenosis ORPHA:664
Larsen-Like Syndrome, Lethal Type
Neonatal death, Pulmonary hypoplasia OMIM:245650
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Postaxial Acrofacial Dysostosis
Cupped ear, Low-set ears, Cryptorchidism, Conductive hearing impairment, Supernumerary nipple, Mi... OMIM:263750
Congenital Diaphragmatic Hernia
Intestinal malrotation, Pulmonary hypoplasia ORPHA:2140
Ménétrier Disease
Giant hypertrophic gastritis, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroe... ORPHA:2494
Marden-Walker Syndrome
Bifid uvula, Intrauterine growth retardation, Low-set ears, Agenesis of corpus callosum, Cerebell... ORPHA:2461
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Koolen-De Vries Syndrome
High palate, Intrauterine growth retardation, Cryptorchidism, Anteverted ears, Microcephaly, Over... OMIM:610443
Lissencephaly Type Iii And Bone Dysplasia
Agenesis of corpus callosum, Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Pulmonar... OMIM:601160
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatoblastoma, Peripheral retinal avascularization, Hepatosplenomegaly, Intrauterine growth reta... ORPHA:96334
Von Hippel-Lindau Syndrome
Tinnitus, Abnormality of the liver, Pulmonary capillary hemangiomatosis, Pancreatic cysts, Sensor... OMIM:193300
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Gastroesophageal reflux, Rectal prolapse, Pyloric stenosis, Pulmonary artery stenosis,... OMIM:613177
Microphthalmia, Syndromic 9
Hypoplastic spleen, Agenesis of pulmonary vessels, Intrauterine growth retardation, Low-set ears,... OMIM:601186
Viss Syndrome
Bifid uvula, Retinal detachment, High, narrow palate, Macroglossia, Microcephaly, Dysphagia, Duod... OMIM:619472
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Short uvula, Hepatic fibrosis, Cleft palate, Pulmonary hypoplasia OMIM:614091
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Abnormal gastric mucosa morphology, Malabsorption, Int... ORPHA:1876
Pericardial And Diaphragmatic Defect
Morphological abnormality of the gastrointestinal tract, Intestinal malrotation, Meckel diverticu... ORPHA:2847
Von Hippel-Lindau Disease
Pancreatic cysts, Endolymphatic sac tumor, Retinal detachment, Hypertensive retinopathy, Retinal ... ORPHA:892
Mowat-Wilson Syndrome
Recurrent otitis media, Abnormal corpus callosum morphology, Cryptorchidism, Abnormal hippocampus... OMIM:235730
Lethal Congenital Contracture Syndrome 10
High palate, Intrauterine growth retardation, Hypoplasia of the thymus, Narrow palate, Pulmonary ... OMIM:617022
Branchiooculofacial Syndrome
Cryptorchidism, Microcephaly, Agenesis of cerebellar vermis, Cleft palate, Retinal coloboma, Intr... OMIM:113620
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Mixed hearing impairment, Low-set ears, Peripapillary atrophy, Posteriorly rotated e... ORPHA:536467
Stuve-Wiedemann Syndrome 1
Smooth tongue, Low-set ears, Abnormal autonomic nervous system physiology, Pulmonary arterial med... OMIM:601559
Dpagt1-Cdg
Cerebellar hypoplasia, Global brain atrophy, Hepatomegaly, Diffuse optic disc pallor, Microcephal... ORPHA:86309
Igg4-Related Ophthalmic Disease
Eosinophilia, Abnormality of the anterior pituitary, Cholangitis, Enlarged lacrimal glands, Orchi... ORPHA:449563
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Biliary tract abnormality, Diabetes mellitus, Nephrogenic diabetes insi... OMIM:209900
Porphyria, Congenital Erythropoietic
Cholelithiasis, Splenomegaly OMIM:263700
Senior-Loken Syndrome 8
Macular atrophy, Hepatic cysts, Pancreatic cysts OMIM:616307
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion