Gene Summary

Name:
pancreatic and duodenal homeobox 1
Synonyms:
IDX-1,  STF-1,  Ipf1,  IPF-1,  Mody4,  pdx-1

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
impaired glucose tolerance Pdx1tm1b(EUCOMM)Wtsi HET Early adult 1.33×10-12
preweaning lethality, complete penetrance Pdx1tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote 0.0% (0 of 2)
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Femur pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forearm N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head mesenchyme N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart ventricle N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Humerus pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Inner ear N/A heterozygote 0.0% (0 of 2)
Intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower leg N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Mesonephros of female N/A heterozygote 0.0% (0 of 2)
Mesonephros of male N/A heterozygote 0.0% (0 of 2)
Metanephros N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nasal septum N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Notochord N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Outflow tract N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
Pharynx N/A heterozygote 0.0% (0 of 2)
Radius-ulna pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Rib pre-cartilage condensation N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Thoracic vertebral cartilage condensation N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trunk mesenchyme N/A heterozygote 0.0% (0 of 2)
Umbilical artery embryonic part N/A heterozygote 0.0% (0 of 2)
Umbilical vein embryonic part N/A heterozygote 0.0% (0 of 2)
Upper arm N/A heterozygote 0.0% (0 of 2)
Upper leg N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 0.0% (0 of 2)
Vibrissa N/A heterozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 1.69% (1 of 59)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
cranium 1.59% (1 of 63)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
external ear 1.37% (1 of 73)
eye 0.2% (1 of 507)
femur pre-cartilage condensation 1.85% (1 of 54)
footplate 0.2% (1 of 507)
forearm 0.33% (1 of 304)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
head mesenchyme 1.69% (1 of 59)
heart 0.2% (1 of 507)
heart ventricle 1.69% (1 of 59)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
humerus pre-cartilage condensation 1.59% (1 of 63)
inner ear 1.59% (1 of 63)
intestine 1.75% (1 of 57)
liver 0.2% (1 of 502)
lower leg 0.33% (1 of 304)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
mesonephros of female 1.85% (1 of 54)
mesonephros of male 1.85% (1 of 54)
metanephros 1.85% (1 of 54)
midbrain 0.2% (1 of 507)
nasal septum 1.69% (1 of 59)
nose 1.3% (1 of 77)
notochord 1.69% (1 of 59)
oral cavity 0.2% (1 of 502)
outflow tract 1.69% (1 of 59)
pancreas 1.85% (1 of 54)
pericardium 1.85% (1 of 54)
pharynx 1.82% (1 of 55)
radius-ulna pre cartilage condensation 1.59% (1 of 63)
rib pre-cartilage condensation 1.79% (1 of 56)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
stomach 1.85% (1 of 54)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
thoracic vertebral cartilage condensation 1.85% (1 of 54)
tongue 1.85% (1 of 54)
trachea 1.72% (1 of 58)
trunk mesenchyme 1.69% (1 of 59)
umbilical artery embryonic part 1.69% (1 of 59)
umbilical vein embryonic part 1.69% (1 of 59)
upper arm 0.33% (1 of 304)
upper leg 0.33% (1 of 304)
urinary system 1.72% (1 of 58)
vibrissa 1.37% (1 of 73)

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

VIP of right fundus

15 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

VIP of left fundus

15 Images

Embryo LacZ

LacZ images wholemount

4 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

3 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Pdx1 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.

The table below shows human diseases predicted to be associated to Pdx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Pancreatic Agenesis 1
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insuffic... OMIM:260370
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Gastric Cancer
Stomach cancer OMIM:613659
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus OMIM:246650
Familial Adenomatous Polyposis 4
Stomach cancer OMIM:617100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Exocrine pan... ORPHA:552
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancre... ORPHA:79084
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Pancreatic Agenesis 2
Pancreatic hypoplasia OMIM:615935
Diarrhea 2, With Microvillus Atrophy
Villous atrophy, Growth delay, Protracted diarrhea, Dehydration, Abnormal intestine morphology OMIM:251850
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia... OMIM:601346
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Intestinal malrotation, Jejunal atresia, Cholestasis, Anterior... OMIM:615710
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Steatorrhea, Short stature OMIM:618752
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
RCAD (renal cysts and diabetes)
Diabetes mellitus, Abnormality of the liver DECIPHER:47
Lactase Deficiency, Congenital
Dehydration, Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Failure to thrive... ORPHA:2470
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Chylous Ascites
Pancreatitis ORPHA:1160
Retinitis Pigmentosa 71
Pancreatitis OMIM:616394
Alpha-Heavy Chain Disease
Growth delay, Hepatomegaly, Ascites, Alopecia, Splenomegaly, Abnormality of the small intestine, ... ORPHA:100025
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis,... OMIM:167800
Hereditary Chronic Pancreatitis
Jaundice, Pancreatic calcification, Diabetes mellitus, Recurrent pancreatitis ORPHA:676
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Abnormality of exocrine pancreas physiology OMIM:609812
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Chronic diarrhea, Cholelithiasis, Steatorrhea, Fat malabsorption ORPHA:309108
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hyperglycemia, Insulin-resistant diabetes mellitus, Acute pancreatitis OMIM:608600
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Alpha-Methylacetoacetic Aciduria
Vomiting, Dehydration OMIM:203750
Lipodystrophy, Familial Partial, Type 7
Impaired glucose tolerance, Glucose intolerance, Pancreatitis, Insulin resistance OMIM:606721
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Dehydration, Diarrhea OMIM:610370
Pseudoprogeria Syndrome
Absent eyelashes, Sparse hair, Thin skin, Growth delay, Absent eyebrow, Decreased body weight, Sp... ORPHA:2985
Pancreatic Agenesis-Holoprosencephaly Syndrome
Pancreatic aplasia, Small for gestational age, Intrauterine growth retardation, High palate, Abse... ORPHA:556955
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Hypoinsulinemia, Diabeti... ORPHA:99886
Trichohepatoenteric Syndrome 2
Cirrhosis, Sparse hair, Villous atrophy, Uncombable hair, Colitis, Hepatomegaly, Hepatitis, Small... OMIM:614602
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Oligohydramnios, Aplasia/Hypoplasia of the gallbladder, Biliar... ORPHA:2255
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Villous atrophy, Growth delay, Aganglionic megacolon, Steatorrhea, ... ORPHA:95427
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Gilbert Syndrome
Jaundice, Dehydration OMIM:143500
Hemochromatosis Type 2
Hypogonadism, Diabetes mellitus, Congenital hepatic fibrosis, Abnormality of endocrine pancreas p... ORPHA:79230
Enteric Anendocrinosis
Portal hypertension, Dehydration, Malabsorption, Cholestatic liver disease ORPHA:83620
Gastroschisis
Intestinal atresia ORPHA:2368
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Malabsorption, Exocrine pancreatic insufficiency ORPHA:586
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Decreased response to... OMIM:262400
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Pancreatic hypoplasia, Hypoglycemia, Diabetes mellitus OMIM:609069
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis OMIM:243300
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Adrenal insufficiency, Hepatic steatosis, Hypoglycemia OMIM:619386
17Q12 Microdeletion Syndrome
Cryptorchidism, Elevated hepatic transaminase, Oligohydramnios, Pancreatic aplasia, Short stature ORPHA:261265
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Colorectal Cancer
Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma OMIM:114500
Combined Malonic And Methylmalonic Aciduria
Vomiting, Dehydration, Diarrhea OMIM:614265
Pancreatic insufficiency, combined exocrine
Anal atresia, Anasarca, Exocrine pancreatic insufficiency OMIM:260450
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Elevated hepatic transaminase, Dysphagia, Hepatomegaly, Dehydration, Failure to t... OMIM:618958
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Reticular Dysgenesis
Weight loss, Dehydration, Failure to thrive, Malabsorption, Skin ulcer ORPHA:33355
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Oligohydramnios, Intestinal malrotation, Abnormality of the pancreas, Abnormal bi... ORPHA:3032
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Hydrocele testis, Abnormality of the nail, Absent eyelashes, Sparse hair, Palpebral edema, Thin s... OMIM:607823
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Oligohydramnios, Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Esophageal varix, Hepatome... OMIM:263200
Gastric Cancer, Hereditary Diffuse
Stomach cancer, Chronic atrophic gastritis, Cleft palate OMIM:137215
Epidermolysis Bullosa, Junctional, Herlitz Type
Pyloric stenosis OMIM:226700
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Hepatocellular carcinoma, Cholelithiasis, Jaundice, Cholestatic liver disease, Pancrea... ORPHA:65682
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Insulin-resistant diabetes mellitus, Polycystic ovarie... ORPHA:435651
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Skeletal muscle fibrosis, Achilles te... ORPHA:456312
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Thin skin, Recurrent loss of toenails and fingernails, Esophageal stricture, Dermal atrophy, Eryt... ORPHA:158673
Duodenal Atresia
Abnormality of the pancreas, Duodenal atresia, Polyhydramnios, Annular pancreas ORPHA:1203
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Carcinoma Of Esophagus
Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Barrett e... ORPHA:70482
Inflammatory Skin And Bowel Disease, Neonatal, 2
Vomiting, Dehydration, Edema, Diarrhea OMIM:616069
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mel... OMIM:604367
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hypothyroidism, Achalasia, Delayed puberty, Short stature, Abn... OMIM:615952
Li-Fraumeni Syndrome 2
Stomach cancer OMIM:609265
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Hypotrichosis 1
Sparse eyebrow, Sparse hair, Sparse axillary hair, Sparse pubic hair, Sparse body hair, Sparse ey... OMIM:605389
Intrinsic Factor Deficiency
Malabsorption, Absence of intrinsic factor OMIM:261000
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Oligohydramnios, Thin skin, Skin dimple, Failure to thrive, Aplasia/Hypoplasia of th... ORPHA:261304
Gallbladder Disease 1
Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice, Cholangitis, Pancreatitis, Ch... OMIM:600803
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Hepatocellular carcinoma, Pancreatitis OMIM:603471
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Weight loss, Protein-losing enteropathy, Dehydration, Edema ORPHA:103910
Cryptosporidiosis
Gastrointestinal obstruction, Dysphagia, Growth delay, Abnormal esophagus morphology, Biliary tra... ORPHA:1549
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hurthle cell thyroid adenoma, Recurrent pancreatitis, Parathyroid adenoma,... OMIM:145001
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Ovarian neoplasm, Colorectal polyposis, Adenomatous... ORPHA:157798
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Cronkhite-Canada Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Abnormal fingernail morphology, Lymphede... ORPHA:2930
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
Friedreich Ataxia
Diabetes mellitus, Decreased pyruvate carboxylase activity OMIM:229300
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Oliver-Mcfarlane Syndrome
Cryptorchidism, Sparse hair, Long eyelashes, Severe short stature, Delayed puberty, Distal amyotr... OMIM:275400
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Growth delay, Central hypothyroidism, Hepatome... ORPHA:1667
Isolated Biliary Atresia
Xanthelasma, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibrosis, ... ORPHA:30391
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Steatorrhea, Hepatomegaly, Jaundice, Splenomegaly OMIM:612714
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Sclerosing cholangitis, Angular cheilitis, Hepatomegaly, Jaundice, Xerostomia, Keratoconjunctivit... OMIM:260480
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of the nail, Thin skin, Hepatic steatosis, Skeletal muscle hypertrophy, Xanthomatosis... ORPHA:2348
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Pyloric stenosis, Bilateral cryptorchidism ORPHA:314575
Dextrocardia
Meckel diverticulum, Webbed neck, Intestinal malrotation, Preauricular skin tag, Pancreatic hypop... ORPHA:1666
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Oligohydramnios, Hepatic cysts, Pancreatic cysts, Polysplenia, Intestinal malrotation,... OMIM:208540
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Episo... ORPHA:276556
Donohue Syndrome
Ovarian cyst, Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, He... OMIM:246200
Maple Syrup Urine Disease
Pancreatitis, Hypoglycemia OMIM:248600
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Thin skin, Atypical scarring of skin, Growth delay, Flexion contracture, Atrophic... ORPHA:75496
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Steatorrhea, Weight loss, Dehydrati... ORPHA:92050
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Hypotrichosis 7
Sparse hair, Sparse and thin eyebrow, Comedo, Woolly hair, Sparse eyelashes OMIM:604379
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Ehlers-Danlos Syndrome, Periodontal Type, 1
Thin skin, Atrophic scars, Intestinal perforation OMIM:130080
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
X-Linked Lissencephaly With Abnormal Genitalia
Cryptorchidism, Hypohidrosis, Exocrine pancreatic insufficiency, Aganglionic megacolon, Malabsorp... ORPHA:452
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Marked muscular hypertrophy, Thin skin, Hepatic steatosis, Skeletal muscle hypertrophy... ORPHA:79083
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Hepatic steatosis, Pancreatitis OMIM:618805
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Aplasia cutis congenita, Sparse hair, Thin skin, Growth delay, Nail dysplasia, Sp... ORPHA:217346
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Abnormality of the pancreas, Anal atresia, Edema, Short statur... ORPHA:2315
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Periventricular Nodular Heterotopia
Thin skin, Pyloric stenosis, Gastroesophageal reflux ORPHA:98892
Combined Immunodeficiency-Enteropathy Spectrum
Polyhydramnios, Gastrointestinal atresia, Peritoneal abscess, Sparse hair, Intestinal malrotation... ORPHA:436252
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Thin skin, Macronodular adrenal hyperplasia, Truncal obesity, Failure to thrive, Generalized hirs... ORPHA:189427
Dermoodontodysplasia
Trichodysplasia, Thin skin, Melanocytic nevus, Fingernail dysplasia, Sparse scalp hair, Toenail d... ORPHA:1660
Congenital Bile Acid Synthesis Defect Type 4
Cirrhosis, Biliary tract abnormality, Cholestasis, Hepatomegaly, Fat malabsorption ORPHA:79095
X-Linked Ehlers-Danlos Syndrome
Thin skin, Gastroesophageal reflux, Short stature ORPHA:75497
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Fat malabsorption, Abnorma... ORPHA:79168
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Netherton Syndrome
Brittle scalp hair, Villous atrophy, Sparse scalp hair, Hypereosinophilia, Sparse and thin eyebro... OMIM:256500
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Glucose intolerance, Exocrine pancreatic insufficiency, Imp... OMIM:137920
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Ileitis, Protein-losing enteropathy, Pancolitis, Gastritis, Abnormal int... OMIM:619079
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreat... ORPHA:99885
Primary Pigmented Nodular Adrenocortical Disease
Slender build, Thin skin, Short stature, Skeletal muscle atrophy, Striae distensae, Myopathy, Adr... ORPHA:189439
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Severe short stature, Hepatomegaly, J... OMIM:211600
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Villous atrophy, Cholelithiasis, Bil... ORPHA:567983
Isobutyryl-Coa Dehydrogenase Deficiency
Vomiting, Dehydration ORPHA:79159
Chronic Hiccup
Dehydration, Abnormality of the diaphragm, Weight loss ORPHA:396
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Dehydration, Failure to thrive ORPHA:28
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Thin skin, Camptodactyly, Intestinal malrotation, Anal atresia, Short stature, Co... OMIM:617602
Rapp-Hodgkin Syndrome
Decreased number of sweat glands, Small nail, Sparse hair, Thin skin, Short stature, Cleft palate... OMIM:129400
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Splenomegaly, Pancreatitis,... ORPHA:90970
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Vomiting, Neonatal death, Dehydration OMIM:602199
Adult Acute Respiratory Distress Syndrome
Pancreatitis, Pneumonia, Diabetic ketoacidosis ORPHA:70578
Lichen Planopilaris
Onycholysis, Dermal atrophy, Hepatitis, Alopecia, Hypopigmented skin patches, Papule, Abnormal in... ORPHA:525
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Steatorrhea, Hepatomegaly, Diarrhea, ... OMIM:617941
Hernia, Hiatus
Hiatus hernia OMIM:142400
Acrogeria
Thin skin, Aplasia/Hypoplasia of the skin, Short stature, Fine hair, Skin ulcer ORPHA:2500
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver... ORPHA:79301
Familial Pancreatic Carcinoma
Peritoneal abscess, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Neoplasm of the ... ORPHA:1333
Autosomal Agammaglobulinemia
Hepatitis, Dehydration, Failure to thrive, High palate, Malabsorption ORPHA:33110
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Villous atrophy, Protein-losing enteropathy, Hepatic fibrosis, Hepatomegaly, Hepatic f... OMIM:602579
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis OMIM:617219
Dermoodontodysplasia
Trichodysplasia, Thin skin, Nail dysplasia OMIM:125640
Glucose/Galactose Malabsorption
Hypertonic dehydration, Malabsorption, Failure to thrive OMIM:606824
Witkop Syndrome
Nail pits, Small nail, Sparse hair, Ridged nail, Concave nail, Fine hair OMIM:189500
Netherton Syndrome
Trichorrhexis nodosa, Abnormal hair morphology, Sparse scalp hair, Dehydration, Sparse and thin e... ORPHA:634
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Oligohydramnios, Camptodactyly, Cholestasis, Hepatomegaly, Protein-losing enterop... OMIM:608104
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Jaundice, Abnormality of exocrine pancreas phys... ORPHA:93111
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Hypothyroidism, Stea... OMIM:269200
Xp22.3 Microdeletion Syndrome
Sacral dimple, Polycystic ovaries, Ectopic anus, Aplasia/Hypoplasia of the skin, Short stature ORPHA:1643
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Cryptorchidism, Short stature, Obesity ORPHA:85274
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Growth delay, Sparse hair OMIM:246500
Congenital Short Bowel Syndrome
Sparse hair, Intestinal hypoplasia, Intestinal malrotation, Short stature ORPHA:2301
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality of the gastric mucosa, Colonic ... ORPHA:263665
Cystinosis
Delayed puberty, Dehydration, Short stature, Failure to thrive, Portal hypertension, Myopathy, Ma... ORPHA:213
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis, Hypogly... OMIM:220111
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Abnormal ... ORPHA:2722
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, Camptodactyly of finger, Cigarette-paper scars, Thin skin, Webbed neck,... OMIM:612350
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Short stature, Failure to thrive, Intrauterine growth retardatio... ORPHA:261483
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Thin skin, Sparse hair, Abnormal fingernail morphology ORPHA:1810
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79312
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity OMIM:251110
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegaly, Intermittent jaundic... OMIM:601847
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Sparse hair, Anal atresia, Absent lower eyelashes, Distichiasis OMIM:227260
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Moderately short stature, Thin skin, Flexion contracture, Thenar muscle atrophy, Failure to thrive ORPHA:157965
Vipoma
Increased circulating gonadotropin level, Elevated circulating growth hormone concentration, Extr... ORPHA:97282
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Failure to thrive OMIM:613217
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prol... OMIM:214950
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Dermal atrophy, Macule, Aplasia/Hypoplasia of the skin ORPHA:1962
Familial Melanoma
Neoplasm of the pancreas, Neoplasm of the stomach, Abnormal hair morphology, Nevus ORPHA:618
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Marburg Hemorrhagic Fever
Jaundice, Skin rash, Pancreatitis ORPHA:99826
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Absent toenail, Hypoplastic toenails, Aplasia cutis congenita, Absent fingernail, Absent thumbnai... ORPHA:79499
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Abnormal peristalsis, Intestinal malrotation, Steatorrhea, Con... OMIM:615237
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Decreased methylmalonyl-CoA mutase activity OMIM:251100
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Immunodeficiency 17
Abnormal intestine morphology, Recurrent gastroenteritis OMIM:615607
Hypohidrotic Ectodermal Dysplasia
Abnormality of the nail, Generalized hypopigmentation of hair, Abnormal hair quantity, Thin skin,... ORPHA:238468
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia OMIM:601165
Feingold Syndrome
Esophageal atresia, Duodenal atresia, Short stature, Abnormality of the spleen, Annular pancreas ORPHA:1305
Filippi Syndrome
Cryptorchidism, Sparse hair, Decreased body weight, Postnatal growth retardation, Hypertrichosis,... OMIM:272440
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Failure to thrive, Steatorrhea, Growth delay OMIM:613291
Hypocalciuric Hypercalcemia, Familial, Type I
Parathyroid adenoma, Hyperparathyroidism, Pancreatitis OMIM:145980
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity OMIM:277410
Volvulus Of Midgut
Intestinal malrotation, Volvulus, Neonatal intestinal obstruction OMIM:193250
Histiocytosis-Lymphadenopathy Plus Syndrome
Hypergonadotropic hypogonadism, Hepatomegaly, Pancreatic hypoplasia, Type I diabetes mellitus, Sp... OMIM:602782
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Dermal atrophy, Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis... OMIM:617294
Diarrhea 9
Villous atrophy, Failure to thrive OMIM:618168
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis, Abnormal circulating h... ORPHA:280356
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Aplasia cutis congenita, Sparse hair, Absent eyelashes, Spotty hypopigment... ORPHA:79133
Sucrosuria, Hiatus Hernia And Mental Retardation
Hiatus hernia OMIM:272000
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71526
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Dehydration OMIM:143860
Pearson Syndrome
Hydrops fetalis, Postnatal growth retardation, Pancreatic fibrosis, Dehydration, Chronic diarrhea... ORPHA:699
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Shagreen patch, Premature graying of hair, Abnormal hair quantity, Severe short s... ORPHA:2617
Deeah Syndrome
Polyhydramnios, Cryptorchidism, Panhypopituitarism, Hypohidrosis, Narrow palate, Exocrine pancrea... OMIM:619004
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Hypersplenism, Fat malabsorption, Periportal fibrosis, Cholangitis, Ascites, Portal hyp... ORPHA:731
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Cystic Fibrosis
Cirrhosis, Exocrine pancreatic insufficiency, Biliary cirrhosis, Steatorrhea, Hepatomegaly, Recta... OMIM:219700
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse hair, Hypopigmented skin patches, Anal atresia, Sparse lateral eyeb... ORPHA:1807
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Thin skin, Stillbirth, Disproportionate short-limb short stature OMIM:259410
Congenital Heart Defects And Ectodermal Dysplasia
Sparse scalp hair, Thin skin, Fragile nails OMIM:617364
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Hypothyroidism, Type I diabetes mellitus, Pancreatitis, Type II diabetes mellitus,... ORPHA:412057
Jejunal Atresia
Jejunal atresia OMIM:243600
Adult Syndrome
Nail pits, Abnormality of the nail, Absent nipple, Breast hypoplasia, Thin skin, Melanocytic nevu... ORPHA:978
Mental Retardation, Autosomal Dominant 35
Pyloric stenosis OMIM:616355
Prolidase Deficiency
Low anterior hairline, Thin skin, Hirsutism, Hepatomegaly, White forelock, Splenomegaly, Generali... ORPHA:742
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B... ORPHA:79302
Harrod Syndrome
Cryptorchidism, Malrotation of small bowel, Aganglionic megacolon, High palate, High, narrow pala... OMIM:601095
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Growth delay, Steatorrhea, Colitis, Edema, Diarrhea ORPHA:309031
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Hydrocele testis, Lymphedema, Facial edema, Protein-losing enteropathy, Edema OMIM:618154
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Abnormal hair morphology, Abnormality of the gastrointestinal t... ORPHA:2028
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Interphalangeal joint contracture of finger, Thick eyebrow, Short stat... OMIM:606242
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Elevated hepatic transaminase, Giant cell hepatitis, Jaundice... OMIM:208085
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Failure to thrive, Protein-losing enteropathy OMIM:615863
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyelashes, Absent eyebrow, Thin nail, Cafe-au-lait spot, Short stature, Prema... OMIM:618625
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Wolfram-Like Syndrome
Male hypogonadism, Glucose intolerance, Hypothyroidism, Delayed puberty, Diabetes mellitus, Centr... ORPHA:411590
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Insulin-resista... ORPHA:79086
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia OMIM:175700
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Pyloric stenosis OMIM:616924
Pearson Marrow-Pancreas Syndrome
Diabetes mellitus, Type I diabetes mellitus, Pancreatic fibrosis OMIM:557000
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Rectovaginal fistula, Enterocolitis, Perianal abscess OMIM:612567
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Vomiting, Dehydration, Growth delay OMIM:602722
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal hair quantity, Abnormal testis morphology, Thin skin, Subcutaneous nodule, Polyc... ORPHA:457059
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Postnatal growth retardation, Dehydration, Decreased circulating... ORPHA:556030
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Steator... OMIM:607765
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Propionic Acidemia
Hepatomegaly, Pancreatitis, Eczema, Hypoglycemia OMIM:606054
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Tubulointerstitial nephritis, Pancreatitis OMIM:251000
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Absent eyelashes, Thin skin, Flexion contracture, Breast aplasia, De... ORPHA:90153
Familial Chylomicronemia Syndrome
Hepatic steatosis, Recurrent pancreatitis, Acute pancreatitis, Jaundice, Perianal abscess, Diabet... ORPHA:444490
Hypotrichosis 10
Sparse body hair, Sparse eyebrow, Sparse eyelashes OMIM:614238
Perlman Syndrome
Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Combined Malonic And Methylmalonic Acidemia
Vomiting, Dehydration, Intermittent diarrhea ORPHA:289504
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Atresia Of Small Intestine
Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Short stature, Failure to thrive,... ORPHA:1201
Dubin-Johnson Syndrome
Biliary tract abnormality, Hepatomegaly, Jaundice, Abnormality of the gastric mucosa, Abnormality... ORPHA:234
Meckel Syndrome, Type 7
Oligohydramnios, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Right ventricular hypertrophy,... OMIM:267010
Corticosterone Methyloxidase Type I Deficiency
Vomiting, Dehydration, Decreased circulating aldosterone level, Growth delay OMIM:203400
Absence Of Fingerprints-Congenital Milia Syndrome
Thin skin, Camptodactyly of finger, Milia ORPHA:1658
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatomegaly, Cleft palate, Bile duct... OMIM:607361
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Melanocytic nevus, Sparse scalp hair, Alopecia universalis, Sparse b... ORPHA:1008
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Failure to thrive in infancy, Postnatal growth retardation, Hepato... OMIM:232700
Mandibuloacral Dysplasia
Abnormal tongue morphology, Sparse hair, Thin skin, Postnatal growth retardation, Hypoplastic fin... ORPHA:2457
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:610947
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormality of the nail, Premature graying of hair, Thin skin, Hepatic steatosis, Skeletal muscle... ORPHA:280365
Griscelli Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Pedal edema,... ORPHA:381
Generalized Pseudohypoaldosteronism Type 1
Proportionate short stature, Weight loss, Failure to thrive in infancy, Cholelithiasis, Dehydration ORPHA:171876
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Cirrhosis, Elevated hepatic transaminase, Oligohydramnios, Hepatic steatosis, Grow... OMIM:613658
Growth Factors, Combined Defect Of
Thin skin, Flexion contracture, Dermal atrophy OMIM:233805
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cryptorchidism, Contracture of the distal interphalangeal joint of the fingers, Coarse hair, Chol... ORPHA:83617
Eosinophilic Gastroenteritis
Hematochezia, Dysphagia, Abnormality of the gastrointestinal tract, Steatorrhea, Protein-losing e... ORPHA:2070
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hypopituitarism, Hepatomegaly, Pancreatic hypoplasia, Diabetes... ORPHA:811
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hypothyroidism, Hepatocellular carcinoma, Hepatomegaly, Testicular atrophy, Decreased ... ORPHA:465508
Ectodermal Dysplasia 6, Hair/Nail Type
Dystrophic toenail, Sparse hair, Alopecia, Thin toenail OMIM:614928
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Hepatocellular carcinoma, Impaired glucose tole... ORPHA:2088
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Trigonocephaly 1
Meckel diverticulum, Synophrys, Preauricular skin tag OMIM:190440
Adult Syndrome
Nail pits, Absent nipple, Breast hypoplasia, Thin skin, Sparse axillary hair, Fair hair, Hypoplas... OMIM:103285
Cutis Laxa, Autosomal Recessive, Type Iiia
Cryptorchidism, Sparse hair, Thin skin, Severe short stature, Failure to thrive, Intrauterine gro... OMIM:219150
Glass Syndrome
Sparse hair, Thin skin, Camptodactyly, Nail dysplasia, Short stature, Cleft palate, High palate OMIM:612313
Rat-Bite Fever
Skin rash, Pustule, Endocarditis, Pericarditis, Lymphadenitis, Maculopapular exanthema, Septic ar... ORPHA:31205
Feingold Syndrome 2
Short stature, Intestinal atresia, Postnatal growth retardation OMIM:614326
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology, Dehydration ORPHA:2290
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Polyhydramnios, Cryptorchidism, Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, ... ORPHA:1812
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Hematemesis, Intrahepatic cholestasis, Esophageal varix... ORPHA:480520
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Growth delay, Hepatomegaly, Splenomegaly, Bile duct pro... OMIM:613027
Silver-Russell Syndrome 2
Intrauterine growth retardation, Thin skin, Short stature OMIM:618905
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Pituitary Adenoma 4, Acth-Secreting
Thin skin, Hirsutism, Pituitary adenoma, Edema, Skeletal muscle atrophy, Abdominal obesity, Stria... OMIM:219090
Acth-Independent Macronodular Adrenal Hyperplasia
Thin skin, Macronodular adrenal hyperplasia, Truncal obesity, Skeletal muscle atrophy, Striae dis... OMIM:219080
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Webbed neck, Esophageal atresia, Preauricular pit, Preauricular skin tag, Duodenal atresia, Hyper... OMIM:619227
Cach Syndrome
Hepatosplenomegaly, Premature ovarian insufficiency, Pancreatitis, Optic neuritis ORPHA:135
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Pancreatitis ORPHA:431361
Acrofacial Dysostosis Syndrome Of Rodriguez
Deep-set nails, High palate, Thin skin, Short stature OMIM:201170
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Testicular seminoma, Short stature ORPHA:281090
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Duodenal atresia, Hydrops fetalis, Intestinal atresia ORPHA:3405
Myopathy, Centronuclear, X-Linked
High palate, Cryptorchidism, Pyloric stenosis OMIM:310400
Chylomicron Retention Disease
EMG: myopathic abnormalities, Elevated hepatic transaminase, Hepatic steatosis, Growth delay, Inc... ORPHA:71
Bone Marrow Failure Syndrome 3
Intrauterine growth retardation, Cryptorchidism, Exocrine pancreatic insufficiency, Short stature OMIM:617052
Osteogenesis Imperfecta, Type Ii
Thin skin, Small for gestational age, Nonimmune hydrops fetalis, Disproportionate short-limb shor... OMIM:166210
Cushing Disease
Thin skin, Truncal obesity, Failure to thrive, Generalized hirsutism, Myopathy, Adrenal hyperplas... ORPHA:96253
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Abnormality of Krebs cycle metabolism, Hepatic failure ORPHA:255210
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Ulcerative colitis, Acute pancreatitis, Perianal abscess, Spl... OMIM:618935
Familial Cervical Artery Dissection
Thin skin, Facial palsy, Striae distensae ORPHA:36382
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Sparse hair, Thin skin, Elbow flexion contracture, Fine hair OMIM:614438
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Acute pancreatitis, Hep... OMIM:151660
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Pyloric stenosis OMIM:218350
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Sparse hair, Thin skin, Microglossia, Knee flexion contracture, Short stature, In... OMIM:151050
Fanconi Anemia, Complementation Group W
Growth delay, Polysplenia, Duodenal atresia, Intrauterine growth retardation, Decreased response ... OMIM:617784
Nephrotic Syndrome, Type 1
Pyloric stenosis, Gastroesophageal reflux OMIM:256300
Trisomy 18P