Gene Summary

Name:
cysteine-rich hydrophobic domain 2
Synonyms:
4930502K01Rik,  1700081B18Rik,  BTL

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
enlarged spleen Chic2tm1b(EUCOMM)Wtsi HET Early adult 0.00
enlarged heart Chic2tm1b(EUCOMM)Wtsi HET Early adult 0.00
increased circulating alanine transaminase level Chic2tm1b(EUCOMM)Wtsi HET   Early adult 1.59×10-05
preweaning lethality, incomplete penetrance Chic2tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased bone mineral content Chic2tm1b(EUCOMM)Wtsi HET   Early adult 1.50×10-05
iris synechia Chic2tm1b(EUCOMM)Wtsi HET Early adult 2.57×10-05
enlarged ovary Chic2tm1b(EUCOMM)Wtsi HET Early adult 0.00
abnormal coat/hair pigmentation Chic2tm1b(EUCOMM)Wtsi HET Early adult 1.71×10-08
increased circulating amylase level Chic2tm1b(EUCOMM)Wtsi HET Early adult 1.09×10-09

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  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)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  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)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 50% (1 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 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)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 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)
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% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote Not available
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote Not available
Footplate N/A homozygote 50% (1 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote Not available
Handplate N/A homozygote 50% (1 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 50% (1 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote Not available
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote Not available
Tail somite N/A homozygote 50% (1 of 2)
Tail N/A heterozygote 50% (1 of 2)
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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
uterus 0.0%
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 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

26 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Echo

M-Mode Images

36 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Embryo LacZ

LacZ images wholemount

8 Images

Human diseases caused by Chic2 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 Chic2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626

The table below shows human diseases predicted to be associated to Chic2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polycystic Ovary Syndrome 1
Hirsutism, Enlarged polycystic ovaries OMIM:184700
Ethanolaminosis
Cardiomegaly OMIM:227150
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Abnorma... ORPHA:42665
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Hirsutism, Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycy... ORPHA:90301
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hepatosplenomegaly, Accumulation of melanosomes i... OMIM:607624
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Abnormal heart morphology, Alopecia, Aplasia/Hypoplasia of the iri... ORPHA:1067
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Abnormal pupil morp... ORPHA:170
Rabson-Mendenhall Syndrome
Ventricular septal defect, Hirsutism, Hypertrichosis, Long penis, Hypokalemia, Low anterior hairl... ORPHA:769
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Cardiomegaly, Hypoalbuminemia ORPHA:88643
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Increased circulating... OMIM:615234
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Abnormality of secondary sexual hair, Macroorchidism, pos... ORPHA:91348
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Hyperpigmentation of the skin, Anemia, Elev... OMIM:613313
Griscelli Syndrome Type 2
Hepatomegaly, Partial albinism, Neutropenia, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Iris ... ORPHA:79477
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Hirsutism, Leukopenia, Abnormal circulating lipid concentrati... ORPHA:2298
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Alopecia, Anemia, Splenomegaly, Premature ovarian insuffi... ORPHA:100025
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Increased serum iron, Ascites, Hepatocellular carcinoma, Azoosp... OMIM:235200
Aromatase Deficiency
Macroorchidism, postpubertal, Hyperlipidemia, Osteoporosis, Ambiguous genitalia, female, Delayed ... ORPHA:91
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Iris coloboma, White forelock, Patchy hypo- and hyperpigmentation, Microc... OMIM:601706
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Hypopigmentation of the skin, Spleno... OMIM:269920
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Sea-Blue Histiocyte Disease
Splenomegaly, Cirrhosis, Thrombocytopenia, Absent axillary hair, Sea-blue histiocytosis OMIM:269600
Estrogen Resistance Syndrome
Osteoporosis, Delayed epiphyseal ossification, Increased circulating gonadotropin level, Osteopen... ORPHA:785
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Hypodontia-Dysplasia Of Nails Syndrome
Fine hair, Polycystic ovaries, Thin toenail, Fragile nails, Abnormality of the nail, Hypoplastic ... ORPHA:2228
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Chorioretinal hypopigmentation, Hypopigmentation of hair, Hypopigm... OMIM:619165
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... OMIM:237800
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Polycystic ovaries, Hypopla... ORPHA:90796
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia OMIM:614480
Hemochromatosis, Type 2A
Increased serum iron, Hepatomegaly, Dilated cardiomyopathy, Azoospermia, Hypogonadotropic hypogon... OMIM:602390
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:613265
Anterior Segment Dysgenesis 5
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... OMIM:604229
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Hirsutism, Ascites, Increased circulating gonadotropin level, Enlarged ... ORPHA:64739
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris coloboma, Iris hypopig... ORPHA:3214
Waardenburg Syndrome, Type 2A
Partial albinism, Hypoplastic iris stroma, Albinism, White eyelashes, Heterochromia iridis, White... OMIM:193510
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circu... OMIM:603552
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly OMIM:179700
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Abnormal number of dense granules, Hypopigmentation of the skin OMIM:614072
Familial Hyperprolactinemia
Osteoporosis, Female hypogonadism, Hemorrhagic ovarian cyst, Osteopenia ORPHA:397685
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Spl... OMIM:613673
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... OMIM:607616
Leprechaunism
Hypertrophic cardiomyopathy, Hepatomegaly, Hypertrichosis, Long penis, Hypokalemia, Enlarged ovar... ORPHA:508
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Griscelli Syndrome
Hypopigmented skin patches, Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Abnormal circulat... ORPHA:381
Tyrosinemia Type 1
Rickets of the lower limbs, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:618963
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Reduced bone mineral density, Cholestasis, Hypocalcemia, Jaundice ORPHA:172
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... OMIM:616828
Peutz-Jeghers Syndrome
Melanonychia, Abnormality of the gallbladder, Cervix cancer, Biliary tract neoplasm, Pancreatic a... ORPHA:2869
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Chorioretinal degeneration, I... ORPHA:98973
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of the skin, Splenomegaly OMIM:618541
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Polycystic ovaries, Hirsutism OMIM:608709
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Bone cyst, Hypertrichos... ORPHA:528
Opitz Gbbb Syndrome
Hypospadias, Ventricular septal defect, Bifid scrotum, Enlarged ovaries, Abnormal heart morpholog... ORPHA:2745
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... OMIM:600649
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Heterochromia iridis, White forelock, Hypopigmentation of hair, Prema... ORPHA:895
Proteus Syndrome
Limbal dermoid, Mandibular hyperostosis, Thin bony cortex, Depigmentation/hyperpigmentation of sk... OMIM:176920
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Thrombocytopenia OMIM:610539
Hepatic Adenomas, Familial
Polycystic ovaries, Hepatocellular adenoma OMIM:142330
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hirsutism, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegal... OMIM:612526
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hirsutism, Coarse hair, Cardiomegaly, Dense calvaria, Splenomegaly, Asymmetric sept... OMIM:252920
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Osteoporosis, Hypopigmentation of the skin ORPHA:2786
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Galactosemia Iii
Jaundice, Hepatomegaly, Hypergalactosemia, Splenomegaly OMIM:230350
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Albinism, Oculocutaneous, Type Ii
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... OMIM:203200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Osteolysis ORPHA:100024
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias, Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Harderoporphyria
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperpigmentation of the skin, Splenomegaly, Increased... OMIM:618892
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Hyperam... OMIM:271500
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Cataract, Splenomegaly ORPHA:79238
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... ORPHA:2885
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Hyperpigmentation of the skin, Anemia, Splenomegaly ORPHA:75563
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy, Splenomegaly, Corneal opacity, Abnormal... ORPHA:93476
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Hyperlipidemia, Abnormality of skin pigm... ORPHA:1414
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Uveitis, Cor... OMIM:221900
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Griscelli Syndrome Type 1
Partial albinism, Hyperlipidemia, White hair, Iris hypopigmentation, Premature graying of hair ORPHA:79476
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Ascites, Thickened cortex of long bones, Cardiomegaly, Co... OMIM:253250
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatospleno... OMIM:613101
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Long eyelashes, Hyperalaninemia, Hyperprolinemia, Synophrys OMIM:619064
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Splenomegaly, Corneal opa... ORPHA:79292
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse eyelashes, Sparse and thin eyebrow, Scarring alopecia of scalp, Splenomegaly... ORPHA:59303
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:277580
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Hypopigmentation of the skin, Iris hy... ORPHA:177910
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Gonadotropin deficiency, Cholestasis, Adrenocorticotropic hormone deficiency,... OMIM:609734
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Dysplastic Cortical Hyperostosis
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Proteus-Like Syndrome
Limbal dermoid, Thymus hyperplasia, Hyperostosis, Polycystic ovaries, Splenomegaly, Heterochromia... ORPHA:2969
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Cardiomegaly OMIM:613576
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... OMIM:255120
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Increased total iron bin... OMIM:616278
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Neuraminidase Deficiency
Hepatomegaly, Ascites, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Card... OMIM:256550
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Hirsutism, Mitral valve prolapse, Osteolysis in... ORPHA:371428
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Chole... OMIM:619658
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypo... ORPHA:848
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Rudiger Syndrome
Hypoplastic fingernail, Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Ascites, Lymphadenopathy, Cardiomegaly, Anemia... ORPHA:858
Methionine Malabsorption Syndrome
Blue irides, White hair, Positive ferric chloride test OMIM:250900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis ORPHA:79084
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Generalized bronze hyperpigmen... ORPHA:465508
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary ... ORPHA:79301
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Ataxia-Telangiectasia
Polycystic ovaries, Abnormal testis morphology, Lymphopenia, Aplasia/Hypoplasia of the thymus, Mu... ORPHA:100
Cronkhite-Canada Syndrome
Hepatomegaly, Dystrophic fingernails, Generalized hyperpigmentation, Dystrophic toenail, Abnormal... ORPHA:2930
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Hypoproteinemia, Lymphadenopathy, Hypoplasia of the thymus, Alop... OMIM:603554
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Lymphadenopathy, Anterior uveitis, Splenomegaly, Elevated circulating... ORPHA:85414
Classic Mycosis Fungoides
Hypopigmented skin patches, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Alopec... ORPHA:2584
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Developmental cataract, Right ventricular hypertrophy,... ORPHA:335
Proteus Syndrome
Ovarian neoplasm, Buphthalmos, Thymus hyperplasia, Generalized hyperpigmentation, Neoplasm of the... ORPHA:744
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc... OMIM:300635
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma, Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Hypopigmentation of hair, Premature graying of hair, Generalized hy... ORPHA:33445
Cowden Syndrome
Hypopigmented skin patches, Bone cyst, Abnormal penis morphology, Goiter, Endometrial carcinoma, ... ORPHA:201
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... ORPHA:79435
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia OMIM:619170
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypertrophic cardiomyopathy, Endocardial fibroe... OMIM:212140
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Microphakia, Sc... OMIM:612109
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... ORPHA:352731
Oculocutaneous Albinism
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... ORPHA:55
Acquired Hypertrichosis Lanuginosa
Fine hair, Ovarian neoplasm, Lymphadenopathy, Abnormal eyebrow morphology, Generalized hirsutism,... ORPHA:2221
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Cystic Echinococcosis
Hepatomegaly, Bone cyst, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cys... ORPHA:400
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis, Hypertriglyceridemia ORPHA:280356
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Jaundice ORPHA:75234
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Hypopyon, Posterior uveitis, Corneal keratic precipitates, Corneal stroma... ORPHA:209959
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Small nail, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Po... OMIM:615631
Tangier Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Nail dystrophy, Splenomegaly, Left ventric... OMIM:205400
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Anemia, Aplasia/Hyp... ORPHA:290
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Adrenal hyperplasia, Fused labia majora, Hirsutism, Elevated circulati... ORPHA:95699
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hepatocellular carcinoma, Elevated circulating c... ORPHA:370
Piebaldism
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... ORPHA:2884
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Polycystic ovaries, Cataract, Hypergonadotropic hypogonadism... ORPHA:3085
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Abnormal pupil morphology ORPHA:101082
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormality of the Leydig cells, Hypogonadotropic hypogonadism, Sparse... OMIM:228300
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hirsutism, Coarse hair, Dense calvaria, Splenomegaly, Asymmetric septal hypertrophy... OMIM:252900
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Polycystic ovar... ORPHA:435660
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatomegaly, Polycystic ovaries, Pancreatitis, Splenomegaly, Hepati... ORPHA:2348
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration, Abnormality of the hepatic vascu... ORPHA:275555
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Rickets, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with epi... OMIM:211600
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hirsutism, Polycystic ovaries, Hyperuricemia, Cirrhosis,... OMIM:604367
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... ORPHA:79432
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Poikiloderma With Neutropenia
Conjunctivitis, Neutropenia, Elevated circulating creatine kinase concentration, Splenomegaly OMIM:604173
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... ORPHA:894
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine... OMIM:201475
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... OMIM:616689
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Acquired Generalized Lipodystrophy
Hepatomegaly, Generalized hyperpigmentation, Abnormal circulating lipid concentration, Unicameral... ORPHA:79086
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Ascites, Increased circulating galectin-3 level, Cardiomeg... ORPHA:57777
46,Xy Complete Gonadal Dysgenesis
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism ORPHA:242
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Elevated circulating C-reactive protein concentration,... ORPHA:158057
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Osteoporosis, Cardiomegaly, Curly eyelashes, Long ey... OMIM:239850
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Cholestasis, Pulmonic valve myxoma... ORPHA:615
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Polycystic ovaries, Hepatic steatosis, Hypertriglyceridemia ORPHA:79085
Elejalde Disease
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:256710
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Peters anomaly, Bilateral cryptorchidism, Atrial septal ... OMIM:618652
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... OMIM:185000
Distal Monosomy 6P
Hypoplasia of the iris, Posterior embryotoxon, Corneal opacity, Atrial septal defect, Abnormal an... ORPHA:96125
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Cataract, Sparse sca... ORPHA:3437
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Polycystic ovaries, Pancreatitis, Splenomegaly, Cirrho... ORPHA:79083
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly ORPHA:664
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Anemi... ORPHA:85451
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Elevated circulating creatine kinase concentrati... ORPHA:264580
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Osteopetrosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, ... OMIM:612840
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Ocular albinism, Lymphadenopathy, Silver-gray hair, Abnorm... OMIM:214500
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... ORPHA:897
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale OMIM:601005
Squalene Synthase Deficiency
Hypospadias, Bicuspid aortic valve, Hypocholesterolemia, Increased circulating farnesol concentra... OMIM:618156
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly OMIM:611762
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... OMIM:235700
Mccune-Albright Syndrome
Goiter, Fibrous dysplasia of the bones, Hepatitis, Hypophosphatemia, Monostotic fibrous dysplasia... ORPHA:562
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Posterior synechiae of the anterior chamber ORPHA:280914
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Abnormal pupil morphology OMIM:160565
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Hyperpigmentation of the skin, Hypopigmentation of the... ORPHA:158029
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Myelofibrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:617441
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly, Cataract, Elevated levels of phytanic acid OMIM:266500
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Increased ... OMIM:613011
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Increas... ORPHA:98848
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Testicular adrenal rest tumor, Hirsutism, Long penis, Hypokalemia, Decreased circulating renin le... ORPHA:90795
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Osteopenia, Splenomegaly, Hyperparathyroidism OMIM:618107
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hepatomegaly, Splenomegaly, Cataract, Hemolytic anemia, Jaundice OMIM:608885
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased bone mineral density ORPHA:37748
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating creatine kinase co... ORPHA:79240
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Osteosclerosis of the base of the skull, Hypoplasia of the ovary, Premature ovarian insufficiency... OMIM:609993
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... OMIM:182900
Sialidosis Type 2
Hepatomegaly, Ascites, Osteoporosis, Splenomegaly, Corneal opacity ORPHA:87876
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Ermine Phenotype
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... ORPHA:999
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocy... OMIM:611490
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Hypertriglycer... ORPHA:435651
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... ORPHA:42
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Polycystic ovaries, Subcapsular cataract, Pigmentary retinopathy,... OMIM:268020
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Cardiomegaly, Anemia, Increased circulating ferritin concentration, ... OMIM:618886
Spherocytosis, Type 2
Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... OMIM:616649
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Rickets, Hypocholesterolemia, Hyperbilirubine... OMIM:607765
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Elevated circul... ORPHA:90793
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... OMIM:617514
Piebald Trait
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... OMIM:172800
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Pancyto... OMIM:618398
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Hyperalaninemia, Hyperammonemia OMIM:619051
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Epiphyseal stippling, Abnormal heart morphology, Intrahepatic biliary dysgenesis, B... OMIM:614866
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Hypospadias, Cryptorchidism, Fair hair, Red hair OMIM:614613
Beta-Thalassemia Intermedia
Splenomegaly, Reduced bone mineral density, Hepatosplenomegaly, Anemia of inadequate production, ... ORPHA:231222
Waardenburg Syndrome
Hypopigmented skin patches, Abnormal vagina morphology, Abnormality of skin pigmentation, Abnorma... ORPHA:3440
Primary Lipodystrophy
Hyperlipidemia, Polycystic ovaries, Pancreatitis, Cardiomyopathy, Splenomegaly, Cirrhosis, Hepati... ORPHA:90970
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Carney Complex, Type 1
Thyroid follicular hyperplasia, Cardiac myxoma, Hirsutism, Freckling, Pituitary adenoma, Profuse ... OMIM:160980
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... OMIM:616050
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Abnormality of skin pigmentation, Reduced bone mineral density, Splenomega... ORPHA:834
Idiopathic Panuveitis
Conjunctival hyperemia, Choroidal neovascularization, Posterior synechiae of the anterior chamber... ORPHA:280921
Waardenburg Syndrome, Type 4C
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, Hypogonadism, Whi... OMIM:613266
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Obesity Due To Prohormone Convertase I Deficiency
Pituitary hypothyroidism, Hypopigmentation of the skin, Gonadotropin deficiency, Cholestasis, Dec... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Pituitary hypothyroidism, Hypopigmentation of the skin, Gonadotropin deficiency, Cholestasis, Dec... ORPHA:71526
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hirsutism, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia OMIM:314050
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Alopecia of scalp, Splenomegaly, Hypogonadism, Paronychia, Decreased testicular size OMIM:201100
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Uveitis, Pancytopenia, ... OMIM:615122
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Hyperbilirubinemia, Nodular regenerative h... ORPHA:64743
Intermediate Uveitis
Band keratopathy, Posterior synechiae of the anterior chamber, Cataract, Anterior uveitis ORPHA:279914
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Increased circulatin... ORPHA:158061
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Abnormality of retinal pigmentation, Normocytic anemia, Posterior uveitis, No... ORPHA:91500
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Mevalonic Aciduria
Cataract, Splenomegaly ORPHA:29
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Hepatomegaly, Punctate keratitis, Splenomegaly, Uveitis, Hypereosinop... OMIM:617388
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Lymphadenopathy, Hyperpigmentation of the skin, Splenomegaly, Hepatospleno... OMIM:602782
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:616719
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Osteopenia, Calvarial hyperostosis, Exocrine pancre... OMIM:612714
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411515
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Syndromic Diarrhea
Bicuspid aortic valve, Hypoplasia of the thymus, Brittle hair, Splenomegaly, Woolly hair, Ventric... ORPHA:84064
Donohue Syndrome
Hypertrichosis, Hepatic fibrosis, Long penis, Pancreatic islet-cell hyperplasia, Clitoral hypertr... OMIM:246200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Leukopenia,... OMIM:267700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... OMIM:300908
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Abnormal circulating lipid concentration, ... ORPHA:829
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Hyperammonemia, Th... ORPHA:79312
Cinca Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Abnormal reproductive system morphology, Abnormal heart morphology, ... ORPHA:70472
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Cataract ORPHA:3137
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Distal Monosomy 10P
Polycystic ovaries, Hypoplastic toenails, Abnormal fingernail morphology, Cryptorchidism, Hypopla... ORPHA:1580
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertrophic cardiomyopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Polycystic ov... ORPHA:280365
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... OMIM:266200
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hypertrichosis, Pericardial effusion, Low anter... ORPHA:363705
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Albinism, Oculocutaneous, Type Ia
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Astigmatism, Hypopi... OMIM:203100
Brittle Cornea Syndrome 1
Decreased corneal thickness, Mitral valve prolapse, Keratoglobus, Abnormal cornea morphology, Ker... OMIM:229200
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Goiter, Polycystic ovaries, Alopecia, Abnormal testis morphology, Mult... ORPHA:457059
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ascites, Ventricular hypertrophy... OMIM:115197
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Hypoproteinemia, Ventricular septal defect, Hypertricho... ORPHA:1655
Fibrous Dysplasia Of Bone
Hyperpituitarism, Hypercalcemia, Precocious puberty in females, Thin bony cortex, Rickets, Fibrou... ORPHA:249
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Posterior subcapsular cataract, Granular macular appearance,... ORPHA:364055
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... ORPHA:860
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, I... OMIM:601847
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Neutropenia, Hirsutism, Leukopenia, Low anterior hairl... OMIM:617303
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Freckling, Hypopigmentation of the skin, Melanocytic nevus, ... ORPHA:79434
Naxos Disease
Dilated cardiomyopathy, Onycholysis, Nail dystrophy, Abnormal morphology of right ventricular tra... OMIM:601214
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Low anterior hairline, Curly eyelashes, Osteoporosis, Cardiomegaly, ... ORPHA:1517
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Porphyria, Congenital Erythropoietic
Hypertrichosis, Corneal scarring, Hyperpigmentation of the skin, Alopecia, Absent eyebrow, Cholel... OMIM:263700
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Increased hepatic echogenicity, Hepatic fi... OMIM:278000
Mogs-Cdg
Hepatomegaly, Hirsutism, External genital hypoplasia, Cardiomegaly, Alopecia, Long eyelashes, Lef... ORPHA:79330
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... ORPHA:67043
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Ele... OMIM:608836
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Hyperpigmentation of the skin, Splenomegaly, Reduced natural kille... OMIM:609981
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hirsutism, Coarse hair, Dense calvaria, Splenomegaly, Asymmetric septal hypertrophy... OMIM:252930
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Hepatomegaly, Hirsutism, Polycystic ovaries, Labial hypertrophy, Ven... OMIM:269700
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Cardiomyopathy, Hyperalaninemia, Hyperprolinemia, Splenomegaly, Increased seru... OMIM:619046
Classic Phenylketonuria
Hypopigmentation of hair, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Ret... OMIM:109270
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis ORPHA:391
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly, Conjunctivitis OMIM:240500
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Spleno... OMIM:606003
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Nail dystrophy, Abnormal lymphocyte morphology, Alopecia, Splenome... ORPHA:3162
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Hirsutism, Polycystic ovaries, Labial hypertrophy, Cardiomyopathy, Splenomegaly, Ci... OMIM:608594
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Abnormality of the urethra, Polycystic ovaries, Hirsutism ORPHA:2795
Immunodeficiency 32B
Splenomegaly OMIM:226990
Premature Ovarian Failure 5
Reduced antral follicle count, Hypoplasia of the ovary, Streak ovary, Premature ovarian insuffici... OMIM:611548
Chédiak-Higashi Syndrome
Neutropenia, Lymphadenopathy, Splenomegaly, Increased circulating ferritin concentration, Hepatos... ORPHA:167
Oculocutaneous Albinism Type 1A
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... ORPHA:79431
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... OMIM:251880
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, Macroorchidism, Polycystic ovaries, Sparse hair ORPHA:284180
X-Linked Recessive Ocular Albinism
Ocular albinism, Freckling, Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Giant ... ORPHA:54
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Jaundice OMIM:235555
Zimmermann-Laband Syndrome
Hepatomegaly, Generalized hyperpigmentation, Abnormal external genitalia, Facial hypertrichosis, ... ORPHA:3473
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Farber Lipogranulomatosis
Hepatomegaly, Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Osteolyti... OMIM:228000
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Lethal Acantholytic Erosive Disorder
Congenital alopecia totalis, Absent hair, Absent toenail, Cardiomegaly, Absent eyelashes, Absent ... ORPHA:158687
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Periostitis, Osteopenia, Splenomegaly, Neutrophilia, Elevated circulating C-reactiv... OMIM:612852
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Myelofibrosis
Myeloproliferative disorder, Myelofibrosis, Splenomegaly OMIM:254450
Juvenile Idiopathic Arthritis
Hepatomegaly, Mediastinal lymphadenopathy, Pericardial effusion, Splenomegaly, Uveitis, Abnormali... ORPHA:92
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, Hypopigmented skin pat... ORPHA:199310
Felty Syndrome
Hepatomegaly, Neutropenia, Pericarditis, Generalized hyperpigmentation, Lymphadenopathy, Abnormal... ORPHA:47612
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Hec Syndrome
Developmental cataract, Vaginal hydrocele, Endocardial fibroelastosis, Cardiomyopathy, Abnormal p... ORPHA:2119
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... OMIM:603903
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Leukopenia, Lymphadenopathy, Anemia, Increased total... OMIM:603553
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... OMIM:238600
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Ascites, Leukopenia, Biliary tract obstruction, Anemia, Splen... ORPHA:77259
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Splenomegaly, In... OMIM:259700
Abetalipoproteinemia
Keratoconjunctivitis sicca, Hepatomegaly, Abnormality of retinal pigmentation, Decreased HDL chol... ORPHA:14
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Ventricular septal defect, Ascites, Cardiomegaly, Osteo... OMIM:616897
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Hypoproteinemia, Ventricular septal defect, Hypertricho... OMIM:235255
Collagenoma, Familial Cutaneous