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Gene: Sqstm1 MGI:107931

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Gene Summary

Name:
sequestosome 1
Synonyms:
A170,  p62,  STAP,  OSF-6,  Osi

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
decreased mean corpuscular hemoglobin Sqstm1tm1a(KOMP)Wtsi HOM Early adult 6.86×10-09
decreased hemoglobin content Sqstm1tm1a(KOMP)Wtsi HOM Early adult 9.30×10-06
increased body length Sqstm1tm1a(KOMP)Wtsi HOM Early adult 6.48×10-05
decreased circulating cholesterol level Sqstm1tm1a(KOMP)Wtsi HOM Early adult 7.20×10-07
decreased circulating LDL cholesterol level Sqstm1tm1a(KOMP)Wtsi HOM Early adult 1.11×10-05
abnormal behavior Sqstm1tm1a(KOMP)Wtsi HOM   Early adult 1.82×10-07
increased lean body mass Sqstm1tm1a(KOMP)Wtsi HOM Early adult 3.51×10-05
decreased mean corpuscular volume Sqstm1tm1a(KOMP)Wtsi HOM Early adult 3.59×10-14
decreased circulating HDL cholesterol level Sqstm1tm1a(KOMP)Wtsi HOM Early adult 4.94×10-07
increased circulating alkaline phosphatase level Sqstm1tm1a(KOMP)Wtsi HOM   Early adult 9.44×10-05
decreased circulating glucose level Sqstm1tm1a(KOMP)Wtsi HOM Early adult 1.08×10-05

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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 50% (1 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 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Ambiguous
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 100% (2 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)
Prostate gland N/A heterozygote Not available
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 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 Not available
Testis N/A heterozygote 50% (1 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)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

8 Images

View images
Legacy Phenotype Associated Images
Sqstm1tm1a(KOMP)Wtsi
body, HOM, Female, WTSI
Sqstm1tm1a(KOMP)Wtsi
body, HOM, Female, WTSI
Sqstm1tm1a(KOMP)Wtsi
head, HOM, Female, WTSI
Sqstm1tm1a(KOMP)Wtsi
head, HOM, Female, WTSI
Sqstm1tm1a(KOMP)Wtsi
forearm, HOM, Female, WTSI

View all 110 images

Sqstm1tm1a(KOMP)Wtsi
eye, abnormal pupil morphology, abnormal placement of pupils, HOM, Female, WTSI
Sqstm1tm1a(KOMP)Wtsi
eye, narrow eye opening, corneal vascularization, HOM, Female, WTSI
Sqstm1tm1a(KOMP)Wtsi
eye, eyelids fail to open, HOM, Female, WTSI
Sqstm1tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Sqstm1tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Sqstm1 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 associated to Sqstm1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Myopathy, Distal, With Rimmed Vacuoles
Elevated circulating creatine kinase concentration OMIM:617158
Distal Myopathy, Welander Type
Mildly elevated creatine kinase ORPHA:603
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Dysphagia, Amyotrophic lateral sclerosis, Disinhibition OMIM:616437
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Dysphagia, Disinh... ORPHA:275872
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Collectionism, ... ORPHA:275864
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Cachexia, Motor neuron atrophy, Dysphagia, Agitation ORPHA:803
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Hypergonadotropic hypogonadism OMIM:617145

The table below shows human diseases predicted to be associated to Sqstm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:232700
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive OMIM:601410
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Acid-Labile Subunit Deficiency
Reduced insulin like growth factor binding protein acid labile subunit concentration, Insulin ins... OMIM:615961
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Polyphagia, Hyperinsulinemia OMIM:618406
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Obesity And Hypopigmentation
Overgrowth, Obesity, Polyphagia, Hyperinsulinemia OMIM:620195
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity ORPHA:71529
Osteomesopyknosis
Increased bone mineral density OMIM:166450
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... OMIM:619868
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Failure to thrive OMIM:615198
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Acanthosis... OMIM:612526
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... ORPHA:293964
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia OMIM:606664
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... ORPHA:2790
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Mazabraud Syndrome
Recurrent fractures, Fibrous dysplasia of the bones ORPHA:57782
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Shor... OMIM:620211
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Hypoglycemia, Elevated circulating creatinine concentration, Hepatic steatosis, ... OMIM:617872
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly, Pyloric stenosis ORPHA:664
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem... ORPHA:71526
Glycogen Storage Disease Ixb
Growth delay, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepa... OMIM:261750
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... OMIM:619874
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Polyphagia OMIM:617885
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... OMIM:614963
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... ORPHA:324575
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Short Stature Due To Partial Ghr Deficiency
Short stature, Delayed puberty, Hypoglycemia, Growth delay ORPHA:314802
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Hyperglycemia, Transient neonatal diabet... ORPHA:99886
Ichthyosis, Congenital, Autosomal Recessive 13
Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Hyperi... ORPHA:276580
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:613027
Phosphoserine Phosphatase Deficiency
Hyposerinemia, Intrauterine growth retardation, Postnatal growth retardation OMIM:614023
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... OMIM:615703
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Melorheostosis
Failure to thrive, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthriti... ORPHA:2485
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio... OMIM:114000
Mednik Syndrome
Intrahepatic cholestasis, Ichthyosis, Abnormal intestine morphology, Decreased circulating cerulo... ORPHA:171851
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Growt... ORPHA:369
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Cortical thickening of long b... ORPHA:1310
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis OMIM:239100
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Insulin-Resistance Syndrome Type A
Type II diabetes mellitus, Delayed puberty, Hyperkeratosis ORPHA:2297
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Ichthyosis, Splenomegaly ORPHA:2274
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Propionic Acidemia
Hepatomegaly, Hyperammonemia, Hypoglycemia ORPHA:35
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:166277
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Hypoke... ORPHA:276575
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato... OMIM:231100
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... ORPHA:446
Pituitary Hormone Deficiency, Combined, 4
Short stature, Severe postnatal growth retardation, Hypoglycemia, Pituitary dwarfism OMIM:262700
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... OMIM:232400
Type 1 Diabetes Mellitus
Hyperglycemia, Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:610539
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Severe short stature, Intrauterine growth retardation, Hypoglycemia OMIM:223500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... OMIM:600785
Cranio-Osteoarthropathy
Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis ORPHA:1525
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Joint stiffness, Obesity ORPHA:1078
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Large for gestational age, Hypoketo... ORPHA:276556
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Severe short stature, Elevated circulating creatinine concentration, Congenital nonbullous ichthy... OMIM:242530
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Short Stature Due To Ghsr Deficiency
Short stature, Delayed puberty, Hypoglycemia, Growth delay ORPHA:314811
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short stature, Abnormal circulating selenium concentration, Fasting hypoglycemia, Growth delay ORPHA:171706
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi... ORPHA:79106
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Hypoglycemia, Growth delay, Severe short stature OMIM:262400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Intrauterine growth ... OMIM:619048
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Pyle Disease
Reduced bone mineral density, Limited elbow extension, Thin bony cortex OMIM:265900
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Glycosuria OMIM:618857
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:615598
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... OMIM:615160
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Growth delay, Decreased HDL choles... OMIM:605814
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodactyly of finger, ... ORPHA:2635
Parana Hard Skin Syndrome
Short stature, Thickened skin, Growth delay, Hyperkeratosis ORPHA:2812
Homozygous 11P15-P14 Deletion Syndrome
Abnormal intestine morphology, Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia OMIM:606528
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hyperammonemia... OMIM:600649
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof... OMIM:231095
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Reduced bone mineral density, Recurrent fractures, Truncal obesity OMIM:620639
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Acanthosis nigric... ORPHA:411593
Cole Disease
Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal blood ... OMIM:615522
Irida Syndrome
Intrahepatic cholestasis, Ichthyosis, Abnormal intestine morphology, Decreased circulating copper... ORPHA:209981
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... OMIM:144750
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recu... OMIM:620357
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... OMIM:275000
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Increased LD... OMIM:278000
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Pseudopseudohypoparathyroidism
Obesity, Ectopic ossification ORPHA:79445
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Proteus Syndrome
Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex, Calvarial hyperostosis OMIM:176920
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... OMIM:609734
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Obesity ORPHA:88643
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Elevated circulating hepatic transamin... OMIM:614817
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration ORPHA:6
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Postnatal growth retardation, Intrauterine growth retardati... ORPHA:254531
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Recurrent fractures, Thin bony cortex, Multiple prenatal fractures OMIM:619795
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Epiphyseal stippling, Coarse metaphyseal trabecularization, Abnormal bone ossification ORPHA:1952
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Osteopetrosis, Autosomal Dominant 2
Bone marrow hypocellularity, Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long ... OMIM:166600
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Increased level of gala... ORPHA:79237
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Increased serum pyruvate, Hypoglycemia OMIM:614741
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Finger joint hypermobility, Obesity ORPHA:436141
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis ORPHA:735
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyper... OMIM:619386
Grant Syndrome
Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Increased susceptibility to fractures, Abn... ORPHA:210110
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ... OMIM:613490
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:246900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Growt... ORPHA:264580
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Palmoplantar keratoderma, Abnormal large in... ORPHA:2198
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole... OMIM:615558
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Intrauterine growth retardation, Elevated circulating creatine kinase concentration... OMIM:618838
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati... ORPHA:2394
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep... ORPHA:247598
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia OMIM:266150
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
14Q11.2 Microduplication Syndrome
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior ORPHA:261229
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures ORPHA:1486
Hypercholanemia, Familial 1
Rickets OMIM:607748
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Obesity, Glucose intolerance, Lar... ORPHA:552
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Amyotrophic lateral sclerosis, Disinhibition OMIM:600274
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Neck joint contracture, Thoracolumbar scoliosis, Achilles tendon contractur... OMIM:255600
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Maturity-onset diabetes of the young, Postnatal growth retardation, Intrauterine gro... ORPHA:96184
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Osteolysis involving bones... ORPHA:73
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density, Increased circulat... ORPHA:37748
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Congenital Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Acantho... ORPHA:528
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Lumbar hyperlordosis, Knee flexion contracture, Hip contracture, Scoliosis, Arthrogryposis multip... OMIM:602484
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... OMIM:611490
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Hyperlordosis, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Left ventricular hypertrophy, Intrauterine growth ... OMIM:616733
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Sparse eyebrow, Fine ... ORPHA:189
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Aminoaciduria, Elevated circulating hepatic transaminase concentration, Glycosuria,... OMIM:616026
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Osteopetrosis, Anemia, Increased bone mineral density OMIM:620366
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Growth delay, Hypocystinemia, Intrauterine growth retardation, Decreased ser... OMIM:617744
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity, Polyphagia ORPHA:177910
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Hyperammonemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:618120
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis, Obesity OMIM:610628
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Generalized ichthyosis,... OMIM:615024
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr... OMIM:261680
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Pili Torti
Alopecia, Abnormal dental enamel morphology, Abnormal eyebrow morphology, Pili torti, Brittle hai... ORPHA:2889
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Gastroesophageal reflux, Hepa... OMIM:201475
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Hypoglycemia, Ascites, Elevated circulating aspartate aminotransferase concentra... OMIM:617049
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Elbow flexion contracture, Knee flexion contracture, Hip contracture, Hyperlordosis, Scoliosis, A... OMIM:600175
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Hyperlordosis, Scoliosis, Increased adipose tissue, Spinal rigidity OMIM:617404
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive, Decreased HDL ch... OMIM:616834
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Splenomegaly, Osteopetrosis, Thrombocytopenia, Anemia OMIM:615085
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... OMIM:600561
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva... OMIM:619111
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Anonychia With Flexural Pigmentation
Follicular hyperkeratosis, Hyperkeratosis ORPHA:69125
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis ORPHA:1336
Pseudopseudohypoparathyroidism
Osteoporosis, Obesity OMIM:612463
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hyperammonemia, Hypoglycemia OMIM:620137
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Intrauterine growth retardation, Ketotic hypogl... ORPHA:26792
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Intervertebral space narrowing, Scoliosis... OMIM:609223
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia, Acanthosis nigricans, Hypertriglyceridemia, H... OMIM:608600
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Ascites, Intrauterine growth retardation, Hyperammonemia, Cardiomegaly, Hyperalanin... OMIM:614702
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Cholestasis, Elevated circ... OMIM:608104
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Summitt Syndrome
Craniosynostosis, Obesity, Tall stature, Camptodactyly of finger ORPHA:3210
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Recurrent infection ... ORPHA:263501
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... ORPHA:42
Alpha-Heavy Chain Disease
Ascites, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Hepatomegaly, Growth delay ORPHA:100025
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Increased total bilirubin, Hepatomegaly, Po... ORPHA:2924
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Postnatal growth retardation, Short stature, High palate, Neonatal hypoglycemia ORPHA:231140
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Recurrent hypoglycemia, Elevated circulating aspar... OMIM:212140
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient... ORPHA:156
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Rigid Spine Syndrome
Elbow flexion contracture, Hamstring contractures, Hip contracture, Hyperlordosis, Scoliosis, Spi... ORPHA:97244
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... ORPHA:79159
Weismann-Netter Syndrome
Anemia, Abnormal cortical bone morphology ORPHA:3344
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Short stature, Growth d... OMIM:615605
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity, Inappropriate laughter, Hyperactivity ORPHA:411515
Dubin-Johnson Syndrome
Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome... ORPHA:234
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Hypoglycem... OMIM:617093
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Elevated circulating dihydroxyphenylacetic acid co... OMIM:223360
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Thoracolumbar kyphoscoliosis, Small nail, Nail dysplasia, ... OMIM:617396
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis ORPHA:79503
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp... OMIM:616483
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Growth delay, Hypoglycemia, Xanthelasma,... OMIM:232200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Preeclampsia
Abnormality of the hepatic vasculature, Elevated circulating hepatic transaminase concentration, ... ORPHA:275555
Temple Syndrome
Bifid uvula, Maturity-onset diabetes of the young, Intrauterine growth retardation, Hypercholeste... OMIM:616222
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... OMIM:600081
Galactosemia Iii
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia OMIM:230350
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... OMIM:210500
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me... OMIM:616943
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Acanthosis nigricans, Hypertriglyceridemia, Hepatomegaly, Increased C-peptide ... OMIM:615238
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Elevated circulating creatinine concentration, Intrauterine growth retardation, Hy... OMIM:617056
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Interverte... OMIM:271630
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Postnatal growth retardation, Hypocalcemia OMIM:615361
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Hepatic failure, Glycosuria, Elevated circ... ORPHA:2088
Laron Syndrome
Severe short stature, Delayed puberty, Hypercholesterolemia, Hypoglycemia ORPHA:633
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A... ORPHA:96180
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity, Osteoarthritis ORPHA:2206
2P21 Microdeletion Syndrome
Cystinuria, Growth delay, Hypocalcemia, Hypoglycemia ORPHA:163693
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Short stature, Hepatome... OMIM:601847
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Increased circulating IgE level, Obesity, Osteoporosis, Recurrent fractu... ORPHA:3409
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ... OMIM:606069
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Senior-Loken Syndrome 9
Osteopenia, Obesity OMIM:616629
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c... OMIM:201450
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia, Acanthocytosis, Failure to thrive ORPHA:71
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Recurrent fractures, Thin bony cortex, Joint hypermobility OMIM:617952
Keratoderma Hereditarium Mutilans With Ichthyosis
Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,... ORPHA:79395
Immunodeficiency 61
Decreased circulating total IgM, Obesity, Decreased circulating IgG2 level, Decreased circulating... OMIM:300310
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperammonemia, Hepatic st... OMIM:212138
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Combined Oxidative Phosphorylation Deficiency 47
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Intrauterine growth retard... OMIM:618958
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:237800
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Primary Biliary Cholangitis
Xanthelasma, Cirrhosis, Hepatomegaly, Celiac disease, Jaundice, Esophageal varix, Ascites, Abnorm... ORPHA:186
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Short stature ORPHA:172
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... OMIM:607616
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Obesity, Hyperostosis frontalis interna, Osteoarthritis ORPHA:77296
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Majeed Syndrome
Failure to thrive, Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomega... ORPHA:77297
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Increased t... OMIM:608836
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Hyperglycemia, Abdominal obesity OMIM:615954
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... ORPHA:399
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Tall stature, ... OMIM:300942
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Absence of intrinsic factor OMIM:243320
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating aspartate aminotransferase concentration, Hyperalaninemia, Elevated circulat... OMIM:617950
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Iron deficiency anemia, Rickets, Osteomalacia ORPHA:89937
Tylosis With Esophageal Cancer
Oral leukoplakia, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis, ... OMIM:148500