Gene Summary

Name:
neuroblastoma ras oncogene
Synonyms:
N-ras

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
preweaning lethality, complete penetrance Nrastm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating glucose level Nrastm1b(EUCOMM)Hmgu HET   Early adult 7.21×10-06
increased circulating HDL cholesterol level Nrastm1b(EUCOMM)Hmgu HET Early adult 9.81×10-05
short tibia Nrastm1b(EUCOMM)Hmgu HET Early adult 4.19×10-07

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  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Bone 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)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Liver 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)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spleen 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)
Uterus 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
Brain N/A heterozygote 100% (3 of 3)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 0.0% (0 of 3)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (3 of 3)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 66.67% (2 of 3)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 66.67% (2 of 3)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 66.67% (2 of 3)
Forelimb N/A homozygote 50% (1 of 2)
Handplate N/A heterozygote 66.67% (2 of 3)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (3 of 3)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 33.33% (1 of 3)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 66.67% (2 of 3)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 66.67% (2 of 3)
Hindlimb N/A homozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 3)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 3)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 3)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 3)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (3 of 3)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 3)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 3)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 66.67% (2 of 3)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 66.67% (2 of 3)
Tail N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.58% (3 of 515)
aorta 0.19% (1 of 518)
bone 0.0%
brain 0.77% (4 of 520)
brainstem 0.38% (2 of 524)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cerebellum 0.57% (3 of 522)
cerebral cortex 0.38% (2 of 525)
esophagus 1.9% (7 of 368)
eye 0.0%
gall bladder 0.0%
heart 0.2% (1 of 499)
hippocampus 0.59% (3 of 509)
hypothalamus 0.39% (2 of 511)
kidney 5.06% (26 of 514)
large intestine 5.39% (28 of 519)
liver 0.0%
lower urinary tract 0.0%
lung 0.38% (2 of 528)
lymph node 0.2% (1 of 510)
mammary gland 0.0%
olfactory lobe 0.39% (2 of 519)
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.4% (2 of 500)
parathyroid gland 0.0%
peripheral nervous system 0.19% (1 of 521)
peyers patch 0.0%
pituitary gland 0.19% (1 of 515)
prostate gland 1.98% (10 of 504)
skeletal muscle 0.0%
skin 0.0%
small intestine 5.07% (26 of 513)
spinal cord 0.4% (2 of 506)
spleen 0.58% (3 of 517)
stomach 3.2% (17 of 532)
striatum 0.58% (3 of 521)
testis 0.99% (5 of 505)
thymus 0.19% (1 of 529)
thyroid gland 2.89% (15 of 519)
trachea 0.58% (3 of 520)
uterus 0.38% (2 of 528)
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)
brain 1.05% (3 of 285)
ear 0.33% (1 of 303)
embryo 0.0%
eye 0.33% (1 of 304)
footplate 0.0%
forebrain 0.34% (1 of 297)
forelimb 0.0%
handplate 0.0%
head 1.04% (3 of 289)
heart 0.0%
hindbrain 2.01% (6 of 299)
hindlimb 0.0%
liver 0.33% (1 of 306)
lung 0.34% (1 of 296)
mandibular process 0.0%
maxillary process 0.33% (1 of 301)
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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 Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Echo

M-Mode Images

32 Images

MicroCT E18.5

Embryo reconstruction

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Adult LacZ

LacZ Images Wholemount

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

Human diseases caused by Nras 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 Nras by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... OMIM:614470
Noonan Syndrome
Hepatomegaly, Short stature, Abnormality of the spleen, Abnormality of the lymphatic system, Cryp... ORPHA:648
Noonan Syndrome 6
Polyhydramnios, Edema OMIM:613224
Schimmelpenning-Feuerstein-Mims Syndrome
Growth delay, Short stature OMIM:163200
Linear Nevus Sebaceus Syndrome
Adenoma sebaceum, Growth delay ORPHA:2612
Colorectal Cancer
OMIM:114500
Melanocytic Nevus Syndrome, Congenital
OMIM:137550
Thyroid Cancer, Nonmedullary, 2
OMIM:188470
Nevus, Epidermal
OMIM:162900
Large Congenital Melanocytic Nevus
ORPHA:626
Melanosis, Neurocutaneous
OMIM:249400

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Ascites, Chylous
Chylous ascites OMIM:208300
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... OMIM:265300
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... OMIM:614470
Fetal Parvovirus Syndrome
Hydrops fetalis, Increased nuchal translucency, Ascites ORPHA:295
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy ORPHA:66661
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Growth delay, Weight loss, Jaundice ORPHA:79238
Chylous Ascites
Lymphedema, Ascites ORPHA:1160
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Immunodeficiency 7
Failure to thrive, Lymphadenopathy, Hypereosinophilia OMIM:615387
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy ORPHA:100024
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neonatal death, Neutropenia OMIM:257100
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Cardiomyopathy, Familial Restrictive, 6
Hydrops fetalis, Hepatomegaly, Ascites OMIM:619433
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Bone marrow hypocellularity, Refractory anemia, Acute myeloid leukemia OMIM:616871
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis, Obesity, Jaundice OMIM:234350
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... OMIM:618858
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hepatosplenomegaly, Ascites OMIM:600461
Immunodeficiency 88
Eosinophilia OMIM:619630
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... ORPHA:54251
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Reticular Dysgenesis
Failure to thrive, Leukopenia, Abnormality of neutrophils, Weight loss, Aplasia/Hypoplasia of the... ORPHA:33355
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites OMIM:174050
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Eosinophilia OMIM:248100
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Allergic Bronchopulmonary Aspergillosis
Weight loss, Abnormal eosinophil morphology ORPHA:1164
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp... OMIM:618987
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Elevated hepatic transami... ORPHA:507
Eosinophilic Fasciitis
Eosinophilia, Weight loss, Abnormal eosinophil morphology ORPHA:3165
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Splenoportal Vascular Anomalies
Ascites, Splenomegaly OMIM:271500
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Immunodeficiency 54
Intrauterine growth retardation, Failure to thrive, Adrenocorticotropic hormone excess, Hepatomeg... OMIM:609981
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... OMIM:606176
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Hodgkin Lymphoma
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Hepatic Veno-Occlusive Disease
Ascites, Hepatomegaly ORPHA:890
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... ORPHA:3226
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Weight loss, Lymphadeno... ORPHA:545
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Tibial Hemimelia
Absent tibia OMIM:275220
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Ascites ORPHA:2123
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Splenomegaly, Hydrops fetalis, Pleural effusion, Ascites ORPHA:2414
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypercholesterolemia, Insulin resistance, Diabetes mellitus ORPHA:181393
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Autoinflammation, Immune Dysregulation, And Eosinophilia
Failure to thrive, Eosinophilic liver infiltration, Short stature, Eosinophilia, Hepatosplenomega... OMIM:618999
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Hepatospl... OMIM:619644
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Abnormal salivary gland morphology ORPHA:482
Mulibrey Nanism
Intrauterine growth retardation, Hepatomegaly, Cachexia, Short stature ORPHA:2576
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Ascites, Splenomegaly ORPHA:1046
Carcinoma Of Esophagus
Obesity, Weight loss, Lymphadenopathy ORPHA:70482
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... OMIM:603554
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Hepatomegaly ORPHA:2198
Metaphyseal Chondrodysplasia, Schmid Type
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... OMIM:156500
Hypervitaminosis A, Susceptibility To
Ascites OMIM:240150
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Wolman Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cachexia, Growth delay, Anemia, Bone-marrow foam cells ORPHA:75233
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Pfapa Syndrome
Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Alpha-Heavy Chain Disease
Ascites, Hepatomegaly, Splenomegaly ORPHA:100025
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low... OMIM:602450
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Wilson Disease
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis,... ORPHA:905
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... ORPHA:169154
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Aggressive Systemic Mastocytosis
Decreased liver function, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenom... ORPHA:98850
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pleural effusion, Generalized edema, Ascit... ORPHA:1041
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Micrognathia, Small hand, Clinodactyly, Short foot, Hyperch... ORPHA:254531
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia... OMIM:607143
Congenital Disorder Of Glycosylation, Type Iir
Ascites, Hepatomegaly OMIM:301045
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Temple Syndrome
Maturity-onset diabetes of the young, Micrognathia, Small hand, Hypertriglyceridemia, Clinodactyl... OMIM:616222
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Cryptorchidism, Monocytosis OMIM:610680
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg... ORPHA:824
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Diabetes mellitus OMIM:222100
Pulmonary Blastoma
Weight loss ORPHA:64741
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Cachexia, Mediastinal lymphadenopathy, ... ORPHA:83469
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss, Hemophagocytosis ORPHA:86884
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... ORPHA:514
Glycogen Storage Disease Iv
Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Edema, Ascites OMIM:232500
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Malignant Peritoneal Mesothelioma
Pedal edema, Ascites ORPHA:168811
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Cinca Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Growth delay, Anemia, Lymphadenopathy OMIM:607115
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Pes cavus, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... ORPHA:1505
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia, Insulin resistance, Diabetes mellitus OMIM:612526
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Combined Oxidative Phosphorylation Deficiency 5
Ascites, Edema OMIM:611719
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Ascites OMIM:617156
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Secondary Intestinal Lymphangiectasia
Chylous ascites, Intestinal lymphedema, Lymphedema, Anasarca, Pleural effusion, Edema ORPHA:90363
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Abnormal circulating creatine kinase concentration, Progressive pe... ORPHA:488650
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatomegaly, Eosinophilia, Hepatosplenome... ORPHA:331206
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... OMIM:251230
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormality of the peritoneum ORPHA:2023
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Esophagitis, Eosinophilic, 2
Failure to thrive, Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Eosinophilia OMIM:610247
Rhabdoid Tumor
Neoplasm of the liver, Anemia, Weight loss, Thrombocytopenia, Lymphadenopathy ORPHA:69077
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... ORPHA:90003
Tuberculosis
Weight loss ORPHA:3389
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Atelosteogenesis Type Iii
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... ORPHA:56305
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... ORPHA:400
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites ORPHA:69735
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly OMIM:269920
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Decreased HDL cholesterol concentration, Maternal di... OMIM:604367
X-Linked Agammaglobulinemia
Failure to thrive, Short stature, Abnormality of the lymphatic system, Abnormality of the tonsils... ORPHA:47
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Weight loss, Lymphadenopathy ORPHA:391
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... OMIM:227270
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Weight loss, Adrenocorticotropic hormone excess ORPHA:100083
Ovarian Fibroma
Ascites, Pleural effusion ORPHA:314473
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Cyclic Neutropenia
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Cyclic neutropenia, Pe... ORPHA:2686
Slc35A2-Cdg
Talipes equinovarus, Increased circulating thyroglobulin level, Short tibia, Aplasia/hypoplasia i... ORPHA:356961
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Budd-Chiari Syndrome
Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Elevate... ORPHA:131
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Fulmin... OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Hepatitis, Failure to thrive secondary to recurren... ORPHA:169160
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... OMIM:613027
Pseudomyxoma Peritonei
Ascites ORPHA:26790
Laron Syndrome
Short toe, Micrognathia, Brachydactyly, Hypoglycemia, Hypercholesterolemia ORPHA:633
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis ORPHA:79087
Majeed Syndrome
Failure to thrive, Hepatomegaly, Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Cache... ORPHA:77297
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly OMIM:258865
Congenital Toxoplasmosis
Ascites, Hepatomegaly ORPHA:858
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Omenn Syndrome
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte mo... ORPHA:39041
Felty Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Weight loss, Neutropenia, Bone marrow... ORPHA:47612
Free Sialic Acid Storage Disease
Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... ORPHA:35858
Femoral-Facial Syndrome
Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Short femur, Micrognathia, Mater... ORPHA:1988
Roifman Syndrome
Hepatomegaly, Splenomegaly, Short stature, Eosinophilia, Postnatal growth retardation, Lymphadeno... OMIM:616651
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Broad hallux phalanx, Preaxial hand polydactyly, 1-3 toe syndactyly, Broad ... OMIM:175700
Chronic Beryllium Disease
Weight loss, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells ORPHA:133
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Lymphocytosis, Abnormality of the lymph nodes, Eosinophilia, Hepatosplenomegal... ORPHA:911
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Hepatosplenomegaly, Edema, Ascites, Pericardial effusion OMIM:608776
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pes cavus, Distal lower limb muscle weakness, Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Kaposi Sarcoma
Generalized lymphadenopathy, Weight loss, Abnormality of the spleen, Abnormality of the liver ORPHA:33276
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Hydrocephalus With Associated Malformations
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Lower limb undergrowth OMIM:236640
Neuraminidase Deficiency
Facial edema, Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites OMIM:256550
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Cryptorchidism, Hepatomegaly, Splenomegaly, Hypoplasia of the thy... OMIM:612541
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Mild postnatal growth... OMIM:224120
Eosinophilic Gastroenteritis
Eosinophilia, Anemia, Weight loss, Leukocytosis ORPHA:2070
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Portal Hypertension, Noncirrhotic, 2
Ascites, Hepatomegaly, Splenomegaly OMIM:619463
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios... OMIM:616843
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Roifman Syndrome
Short stature, Eosinophilia, Hepatosplenomegaly, Postnatal growth retardation, Lymphadenopathy, I... ORPHA:353298
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Hepatomegaly, Rhizomelia, Weight loss, Severe short-limb dwarfism, Anemia ORPHA:1842
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Idiopathic Achalasia
Weight loss ORPHA:930
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... OMIM:608571
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... OMIM:119800
Familial Atrial Myxoma
Pedal edema, Ascites ORPHA:615
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:609945
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Lymphadenopathy OMIM:617718
Refractory Celiac Disease
Increased proportion of HLA DR+ T cells, Normocytic anemia, Iron deficiency anemia, Macrocytic an... ORPHA:398063
Bardet-Biedl Syndrome 9
Postaxial polydactyly, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Postax... OMIM:615986
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Acute hepatic failure, Eosinophilia, Elevated hepatic transaminase, Hepatitis, Wei... ORPHA:139402
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Micrognathia, Genu valgum, Short foot, Lower limb undergrowth... ORPHA:314795
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, H... OMIM:304790
Cryptogenic Organizing Pneumonia
Weight loss, Neutrophilia, Leukocytosis ORPHA:1302
Mulibrey Nanism
Hydrops fetalis, Hepatomegaly, Ascites OMIM:253250
Laryngotracheoesophageal Cleft Type 4
Abnormality of mesentery morphology, Cachexia, Abnormality of the spleen ORPHA:93941
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Ascites, Hepatomegaly, Splenomegaly OMIM:615122
Klippel-Trénaunay Syndrome
Ascites, Hydrops fetalis, Hepatomegaly, Edema ORPHA:90308
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard... OMIM:615190
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Tempi Syndrome
Transudative pleural effusion, Ascites ORPHA:284227
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Lymphopenia, Abnormal lymphatic vessel morphology, Reduced proportion of CD4... ORPHA:90362
Immunodeficiency 55
Lymphopenia, Short stature, Absent natural killer cells, Neutropenia, Postnatal growth retardatio... OMIM:617827
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Jaundice ORPHA:99978
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss, Hypereosinophilia, Leukocytosis ORPHA:2902
Pleural Mesothelioma
Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:50251
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision ci... OMIM:242700
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Pancytopenia, Weight loss, Neutropenia, Anemia, Thrombocytopenia, Lymph... ORPHA:520
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Peripheral edema, Pleural effusion, Generalized edema, Ascites ORPHA:64739
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Wells Syndrome
Eosinophilia ORPHA:901
Mandibuloacral Dysplasia
Glucose intolerance, Short clavicles, Hyperinsulinemia, Micrognathia, Acroosteolysis of distal ph... ORPHA:2457
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Neoplasm of the liver, Extrahepatic cholestasis, Hepatosplenom... ORPHA:1333
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Hereditary Elliptocytosis
Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia, Poikilocytosis, Cong... ORPHA:288
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Congenital Disorder Of Glycosylation, Type Ih
Ascites, Oligohydramnios, Hepatomegaly, Edema OMIM:608104
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hepatomegaly, Splenomegaly, Hypereosinophilia, Autoimmune hemolytic anemia, Gr... OMIM:617388
9Q31.1Q31.3 Microdeletion Syndrome
Short clavicles, Type II diabetes mellitus, Small hand, Tapered finger, Hypercholesterolemia ORPHA:401923
Hemochromatosis, Type 1
Ascites, Hepatomegaly, Pleural effusion, Splenomegaly OMIM:235200
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Micrognathia, Small hand, Clinodactyly, Short foot, Hyperch... ORPHA:96184
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... OMIM:171480
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Normochromic microcytic anemia, Decreased testicular size, Post... OMIM:610198
Alveolar Echinococcosis
Cutaneous abscess, Decreased liver function, Pancreatic cysts, Abnormal spleen morphology, Eosino... ORPHA:284
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Hepatic fail... ORPHA:79303
Huntington Disease-Like 2
Weight loss ORPHA:98934
Immunodeficiency 92
Hepatomegaly, Lymphocytosis, Leukocytosis, Sclerosing cholangitis, B lymphocytopenia, Thrombocyto... OMIM:619652
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... ORPHA:2442
Ovarian Fibrothecoma
Ascites, Pleural effusion ORPHA:314478
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Cachexia, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Weight loss... ORPHA:298
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Nonimmune hydrops fetalis, Pleural effusion OMIM:617049
Mirage Syndrome
Decreased body weight, Lymphopenia, Cryptorchidism, Short stature, Leukopenia, Hypoplastic spleen... OMIM:617053
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Elevated hepatic transaminase, Weight loss, Anemia, Lung abscess, Liver abscess ORPHA:67
Nodular Non-Suppurative Panniculitis
Weight loss, Hepatomegaly, Splenomegaly ORPHA:33577
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Generalized edema, Ascites, Hepatomegaly, Edema OMIM:226300
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Pheochromocytoma, Nodular goiter, Weight loss, Lymphadenopathy, Abno... ORPHA:1332
Aredyld Syndrome
Hepatomegaly, Short stature, Splenomegaly, Cachexia, Intrauterine growth retardation ORPHA:1133
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calciu... OMIM:307800
Griscelli Syndrome
Pedal edema, Hepatomegaly, Ascites, Splenomegaly ORPHA:381
Omodysplasia 1
Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited knee flexion, S... OMIM:258315
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Pyomyositis
Testicular teratoma, Weight loss, Leukocytosis, Recurrent cutaneous abscess formation ORPHA:764
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Hepatosplenomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Ascites ORPHA:367
Gracile Bone Dysplasia
Failure to thrive, Hypoplastic spleen, Asplenia, Short stature OMIM:602361
Niemann-Pick Disease, Type A
Ascites, Hepatomegaly, Splenomegaly OMIM:257200
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Angioedema, Pleural effusion, Ascites, Pericardial effusion ORPHA:36412
Galactosemia
Ascites, Hepatomegaly ORPHA:352
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Lymphocytosis, Acute hepa... ORPHA:1667
Peeling Skin Syndrome 1
Eosinophilia, Short stature OMIM:270300
Moynahan Syndrome
Cachexia, Short stature ORPHA:2574
Systemic Capillary Leak Syndrome
Weight loss, Pancreatitis, Leukocytosis ORPHA:188
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Classic Galactosemia
Ascites, Hepatomegaly ORPHA:79239
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Pleural effusion, Hydrops fetalis, Ascites OMIM:616897
Holocarboxylase Synthetase Deficiency
Growth delay, Weight loss, Thrombocytopenia ORPHA:79242
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Short clavicles, Hyperinsulinemia, Hyperlipidemia, Micrognathia, ... OMIM:248370
Alg8-Cdg
Oligohydramnios, Hydrops fetalis, Ascites, Edema ORPHA:79325
Diffuse Alveolar Hemorrhage
Weight loss, Anemia, Thrombocytopenia, Leukocytosis ORPHA:90060
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Thrombocytosis, Weight loss, Acute myeloid leukemia ORPHA:71493
Osteootohepatoenteric Syndrome
Failure to thrive, Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hepatic fibrosis, ... OMIM:619377
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly OMIM:165590
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia OMIM:612075
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Galactokinase Deficiency
Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hypoglycemia, Hyper... ORPHA:79237
Orofaciodigital Syndrome Type 2
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... ORPHA:2751
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Short clavicles, Hyperlipidemia, Hyperinsulinemia, Micrognathia, Acroosteoly... OMIM:608612
Chronic Hiccup
Weight loss ORPHA:396
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Severe B lymph... OMIM:102700
Erythrokeratodermia Variabilis
Weight loss, Abnormal testis morphology, Short stature ORPHA:317
Pgm3-Cdg
Cutaneous abscess, Failure to thrive, Abnormal proportion of CD8-positive T cells, Lymphopenia, N... ORPHA:443811
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Cronkhite-Canada Syndrome
Cachexia, Anemia, Hepatomegaly, Splenomegaly ORPHA:2930
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Nephrotic Syndrome, Type 11
Arachnodactyly, Micrognathia, Partial duplication of thumb phalanx, Clinodactyly, Hypoalbuminemia... OMIM:616730
Isaacs Syndrome
Weight loss ORPHA:84142
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Lymphadenopa... ORPHA:79456
Aicardi-Goutieres Syndrome 9
Intrauterine growth retardation, Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Hemolytic a... OMIM:619487
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Growth delay, Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural ... OMIM:243700
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Palpebral edema, Pedal edema, Anasarca, Edema, Pleural effusion, Ascites ORPHA:567546
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Mucopolysaccharidosis Type 7
Hydrops fetalis, Lymphedema, Ascites, Splenomegaly ORPHA:584
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Primary hyperparathyroidism, Chronic noninfectiou... ORPHA:97289
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Increased C-peptide level, Long foot, Hypertriglyceridemia, Large hands, Diabet... ORPHA:528
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Mesomeli... OMIM:263520
Dengue Fever
Ascites, Hepatomegaly ORPHA:99828
Hereditary Folate Malabsorption
Megaloblastic anemia, Failure to thrive, Eosinophilia, Pancytopenia, Thrombocytopenia ORPHA:90045
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial polydacty... OMIM:617925
Nephroblastoma
Weight loss, Neoplasm of the liver, Lymphadenopathy ORPHA:654
Hereditary Central Diabetes Insipidus
Growth delay, Weight loss ORPHA:30925
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Pseudo-Torch Syndrome 2
Ascites, Hepatomegaly, Pleural effusion OMIM:617397
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... OMIM:601027
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... ORPHA:2298
Reynolds Syndrome
Xerostomia, Ascites, Hepatomegaly ORPHA:779
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular car... ORPHA:465508
Igg4-Related Aortitis
Weight loss, Hypereosinophilia ORPHA:449400
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Polycythemia Vera
Hepatomegaly, Splenomegaly, Portal hypertension, Weight loss, Acute leukemia ORPHA:729
Pneumocystosis
Weight loss, Abnormal neutrophil count ORPHA:723
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... ORPHA:96334
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing OMIM:113470
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess OMIM:147060
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Ascites, Hepatomegaly, Splenomegaly OMIM:251880
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... OMIM:600002
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Anasarca, Pleural effusion, Ascites, Pericardial effusion OMIM:618183
Lysosomal Acid Lipase Deficiency
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Vacuolated lymphoc... ORPHA:275761