Gene Summary

Name:
Fc receptor-like A
Synonyms:
FCRL1,  FREB,  Freb1,  Fcrx,  mFREB,  mFcrX

IMPC Data Collections

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
abnormal coat/hair pigmentation Fcrlatm1b(KOMP)Wtsi HOM Early adult 8.12×10-06
abnormal uterus morphology Fcrlatm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal heart morphology Fcrlatm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal kidney morphology Fcrlatm1b(KOMP)Wtsi HOM Early adult 0.00
enlarged uterus Fcrlatm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal spleen morphology Fcrlatm1b(KOMP)Wtsi HOM Early adult 0.00
enlarged heart Fcrlatm1b(KOMP)Wtsi HOM Early adult 0.00
enlarged spleen Fcrlatm1b(KOMP)Wtsi HOM Early adult 0.00
hydrometra Fcrlatm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland 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)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

12 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Human diseases caused by Fcrla mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hirsutism, Hypopla... OMIM:300510
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia OMIM:153600
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Griscelli Syndrome, Type 2
Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of m... OMIM:607624
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Myeloma, Multiple
Paraproteinemia OMIM:254500
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Immunodeficiency 25
Increased circulating IgM level, Increased circulating IgE level, Decreased circulating IgG2 leve... OMIM:610163
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Alopecia, Premature ovarian insufficiency, Lymphaden... ORPHA:100025
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Hepatomegaly, Hypogonadism, Cafe-au-lait spot, Anemia, Splenomegaly, De... OMIM:615234
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Decreased ... OMIM:617765
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Rudiger Syndrome
Ovarian cyst, Ureterovesical stenosis, Bicornuate uterus, Hypoplastic fingernail, Micropenis OMIM:268650
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus, Ectopic kidney, Low posterior h... ORPHA:2578
Sea-Blue Histiocyte Disease
Cirrhosis, Absent axillary hair, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus, Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Premature Ovarian Failure 7
Absent pubic hair, Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis, Premature ... OMIM:612964
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus, Horseshoe kidney, Multicystic kidney dysplasia, Vesicoureteral reflux,... OMIM:617805
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating I... OMIM:613493
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Sex reversal, Hypoplasia of the ut... OMIM:612965
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair ORPHA:1355
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Cardiomyopathy OMIM:613313
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Immunodeficiency 64
Increased circulating IgM level, Defective T cell proliferation, Increased circulating IgG level,... OMIM:618534
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased circulating IgG level, Increased circulating IgE l... OMIM:618944
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Increased circulating IgG level OMIM:619220
Hemochromatosis, Type 2A
Cirrhosis, Azoospermia, Dilated cardiomyopathy, Hepatomegaly, Hyperpigmentation of the skin, Sple... OMIM:602390
White Forelock With Malformations
Atrial septal defect, White forelock, Poliosis OMIM:277740
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules OMIM:614072
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Hepatocellular carcinoma, Hepatomegaly, Testicular atrophy, Hyperpigmenta... OMIM:235200
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia, Partial albinism ORPHA:90023
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Ovarian Fibrothecoma
Peritonitis, Abnormality of the ovary, Hirsutism, Abnormality of the endometrium, Ascites, Gonada... ORPHA:314478
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased t... OMIM:614837
Amed Syndrome, Digenic
Hypoplasia of the uterus, Thrombocytopenia, Acute myeloid leukemia, Hyperpigmentation of the skin... OMIM:619151
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Fair hair, Hepatomegaly, Nephrotic syndrome, Ascites, Cardiomegaly, Splen... OMIM:269920
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of the skin, Splenomegaly OMIM:618541
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Mullerian Aplasia And Hyperandrogenism
Hirsutism, Unilateral renal agenesis, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the ut... OMIM:158330
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Absent pubic hair, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decre... OMIM:614841
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Absent pubic hair, Absent axillar... ORPHA:99429
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Cardiomyopathy, Splenomegaly OMIM:608540
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, High anterior hairline, Hirsutism, Hypoplas... ORPHA:247768
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hirsutism, Coarse hair, Synophrys, Heparan sulfate excretion in ur... OMIM:252920
Cardiac-Urogenital Syndrome
Cryptorchidism, Ambiguous genitalia, Scimitar anomaly, Accessory spleen, Atrial septal defect, Bi... OMIM:618280
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria, Splenomegaly ORPHA:882
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgE, Agammaglobulinemia, Decreased circulating IgA level, Decreased circula... OMIM:300400
Griscelli Syndrome Type 2
Hemophagocytosis, Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Neu... ORPHA:79477
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Ovarian neoplasm, Generalized hirsutism, F... ORPHA:2221
Teebi Hypertelorism Syndrome
Highly arched eyebrow, Atrial septal defect, Ventricular septal defect, Widow's peak, Bicornuate ... OMIM:145420
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Partial vaginal septum, Abnormality of the uterine cervix, Uterus didelphys ORPHA:3411
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Unilateral renal agenesis, Bicornuate uterus, Vesicoureteral reflux, M... OMIM:606408
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:601859
Microphthalmia, Syndromic 9
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Single ventricle, Horseshoe kidney, Ven... OMIM:601186
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Generalized hirsutism, Abnormality o... ORPHA:93476
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Unilateral renal agenesis, Bicornuate uterus, Ectopic kidney OMIM:601076
Donnai-Barrow Syndrome
Abnormality of the uterus, Ventricular septal defect, Widow's peak, Bicornuate uterus, Proteinuria ORPHA:2143
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadoblastoma, Hypoplasia of the uterus, Streak o... ORPHA:168563
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Scarring alopecia of scalp, Cholestasis, Hepatomegaly, Jaundice, Sparse scalp hair, Sparse and th... ORPHA:59303
Galactosemia Iii
Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Vanishing testis, Abnormal internal genitalia, Gonadal dysgenesis with ... OMIM:273250
Perrault Syndrome 6
Premature ovarian insufficiency, Hypoplasia of the uterus, Streak ovary OMIM:617565
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Renal insufficiency, Abnormality of the uterus, Abnormal vagina morphology, Gonad... OMIM:194072
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anem... ORPHA:858
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Abnormal hair morphology, Hypoplasia of the ... ORPHA:3130
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Griscelli Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neu... ORPHA:381
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Classic Mycosis Fungoides
Irregular hyperpigmentation, Abnormality of the nail, Abnormal lymphocyte morphology, Hypopigment... ORPHA:2584
Gillessen-Kaesbach-Nishimura Syndrome
Frontotemporal hypertrichosis, Abnormal heart morphology, Periportal fibrosis, Bicornuate uterus,... OMIM:263210
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Cardiomegaly OMIM:613576
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Immunodeficiency 14A, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Splenomegaly, Ascites, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia ... OMIM:615631
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Ataxia-Telangiectasia
Hypopigmentation of hair, Premature graying of hair, Abnormal testis morphology, Lymphopenia, Apl... ORPHA:100
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, External genital hypoplasia, Hypogonadotropic hy... ORPHA:177910
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia, Abnormal heart morphology ORPHA:1067
Kimura Disease
Increased circulating IgE level ORPHA:482
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Meacham Syndrome
Cryptorchidism, Ambiguous genitalia, Anomalous pulmonary venous return, Situs inversus totalis, A... ORPHA:3097
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly... OMIM:256550
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly, Absent testis, Vanishing t... ORPHA:325124
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy OMIM:617713
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Paronychia, Hepatomegaly, Alopecia of scalp, Splenomegaly, Decreased testicular size, Hypogonadism OMIM:201100
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level OMIM:193670
Satoyoshi Syndrome
Hypoplasia of the uterus, Alopecia universalis, Alopecia OMIM:600705
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Ureteral duplication, Uterus didelphys ORPHA:1756
Premature Ovarian Failure 6
Premature ovarian insufficiency, Hypoplasia of the uterus, Streak ovary OMIM:612310
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Horseshoe kidney, Type I truncus arteriosus, Cystic renal dysplasia, Secundum atr... OMIM:156810
Premature Ovarian Failure 18
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Cryptorchidism, Abnormality of the uterus, Ventricular septal defect... ORPHA:1655
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Horseshoe kidney, Renal hypoplasia, Abnormal spleen mo... ORPHA:2470
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Uterus didelphys, Hypoplasia of penis ORPHA:2491
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Hirsutism, Coarse hair, Synophrys, Heparan sulfate excretion in ur... OMIM:252900
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Increased urinary p... OMIM:618892
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Prune Belly Syndrome
Cryptorchidism, Renal insufficiency, Abnormality of the uterus, Urogenital sinus anomaly, Atrial ... ORPHA:2970
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Atrial septal defect, Ventricular septal defect, Synophrys, Pa... OMIM:606003
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Hardikar Syndrome
Mottled pigmentation, Pigmentary retinopathy, Ventricular septal defect, Hydroureter, Hepatomegal... OMIM:612726
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... ORPHA:650
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
X-Linked Sideroblastic Anemia
Hyperpigmentation of the skin, Anemia, Splenomegaly ORPHA:75563
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... ORPHA:33445
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly OMIM:607616
Cronkhite-Canada Syndrome
Abnormality of skin pigmentation, Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Hepato... ORPHA:2930
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG ... ORPHA:169154
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Unilateral renal agenesis, Septate vagina, Vaginal atresia, Vesicouret... ORPHA:2237
Attrv30M Amyloidosis
Abnormal renal physiology, Nephropathy, Cardiomegaly, Cardiomyopathy ORPHA:85447
Hand-Foot-Genital Syndrome
Abnormality of the uterus, Ventricular septal defect, Ureteropelvic junction obstruction, Bicornu... ORPHA:2438
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hirsutism, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:612526
Cholestasis-Lymphedema Syndrome
Abnormality of skin pigmentation, Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestat... ORPHA:1414
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Hyperpigmentation of the skin, Splenomega... ORPHA:158029
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Jaundice, Pulmonic valve myxoma, Ascites, Cardiomegaly, Bacterial en... ORPHA:615
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Long eyelashes, Cardiomegaly, Synophrys OMIM:619064
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Proteinuria, Septate vagina, Distal renal tubular acidosis, Proximal renal tubular aci... OMIM:146255
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Beaulieu-Boycott-Innes Syndrome
High anterior hairline, Endometriosis, Horseshoe kidney, Ventricular septal defect OMIM:613680
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Increased circulating IgE level, Inc... ORPHA:449400
Lumbar Syndrome
Cryptorchidism, Bifid uterus, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Vesic... ORPHA:83628
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Impaired T cell function, Decreased circulating IgG level, Decre... OMIM:607594
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Azoospermia, Ventricular septal defect, Hypergonadotropic hypogonadism, Hep... OMIM:602782
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgG level, Decreased circulating IgA level, Parti... OMIM:240500
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Pelvic kidney, Rectovaginal fistula, Bicornuate uterus, Vesicoureteral reflux, Bicuspid aortic va... OMIM:300707
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, H... ORPHA:432
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Sex reversal, Bicornuate uterus, Hypospadias, True hermaphroditism, Clito... OMIM:400045
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Brushfield spots, Pigmentary retinopathy, Abnormal heart morphology, Intrahepatic... OMIM:614866
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Patent f... OMIM:618652
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormality of the uterus, Abnormal e... ORPHA:3440
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Hypoplasia of the uter... ORPHA:90796
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Hirsutism, Thrombocytopenia, Splenomegaly OMIM:314050
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red ... OMIM:603903
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:603909
Symptomatic Form Of Hemochromatosis Type 1
Generalized bronze hyperpigmentation, Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Testicul... ORPHA:465508
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Candidiasis, Familial, 2
Increased circulating IgE level OMIM:212050
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Increased circula... OMIM:617241
Perrault Syndrome 4
Premature ovarian insufficiency, Bicornuate uterus, Hypoplasia of the uterus, Hypoplasia of the o... OMIM:615300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Increased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:276
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Endocardial fibroelastosis, Decreased carnitine level in liver, Hepatomegaly, ... OMIM:212140
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... OMIM:616860
Syndromic Diarrhea
Generalized hypopigmentation, Cirrhosis, Hypoplasia of the thymus, Bicuspid aortic valve, Tetralo... ORPHA:84064
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, High anterior hairline, Unilat... ORPHA:363444
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of the nail, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splen... ORPHA:2348
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Splenomegaly OMIM:214900
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism, Long eyelashes OMIM:600908
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Unilateral renal agenesis, Hypoplasia of the vagina, Ectopic kidney, Aplasia of... ORPHA:3109
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Atrial septal defect, Lymphopenia, Neutropenia... OMIM:612541
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Mulibrey Nanism
Myocardial fibrosis, Pigmentary retinopathy, Hepatomegaly, Ascites, Cardiomegaly, Pericardial con... OMIM:253250
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Highly arched eyebrow, Small nail, Renal hypoplasia, Hyperconvex na... OMIM:614527
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Mosaic Trisomy 9
Cryptorchidism, Abnormality of the uterus, Atrial septal defect, Small nail, Multiple renal cysts... ORPHA:99776
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Ascites, Cardiomegaly, Ventricular s... OMIM:115197
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... ORPHA:897
Immunodeficiency 60
Decreased circulating IgE, Decreased circulating total IgM, Decreased circulating IgG level, Decr... OMIM:618394
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus, Proteinuria OMIM:191830
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia, Renal insufficie... ORPHA:79312
Woodhouse-Sakati Syndrome
Sparse hair, Hypergonadotropic hypogonadism, Hypoplasia of the fallopian tube, Hypoplasia of the ... OMIM:241080
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Splenomegaly, He... OMIM:616828
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Atrial septal defect, Pigmentary retinopathy, Chordee, Ventricular septal defect, Clit... OMIM:309801
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Clitoral hypertrophy, Precocious puberty in males, Hypoplasia of the uterus, Hypoplas... OMIM:202010
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Decreased numbers of nephrons, Renal hypoplasia, Hypoplasia of... OMIM:137920
Lymphoproliferative Syndrome, X-Linked, 1
Increased circulating IgM level, Decreased circulating antibody level, Dysgammaglobulinemia, Decr... OMIM:308240
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Pagod Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Abnormality of the uterus,... ORPHA:991
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Abnormal heart morphology, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic s... ORPHA:370
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Atrial septal defect, Ventricular septal defect, Thrombocyto... ORPHA:290
Cantu Syndrome
Pericardial effusion, Congenital, generalized hypertrichosis, Long eyelashes, Congenital hypertro... OMIM:239850
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Pseudotrisomy 13 Syndrome
Cryptorchidism, Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Renal hypopla... OMIM:264480
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Cardiomegaly, Anem... OMIM:618886
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:308230
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Okamoto Syndrome
Unilateral renal hypoplasia, Bifid uterus, Ventricular septal defect, Abnormal heart morphology, ... ORPHA:2729
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgM level, Increased circulating specific ... ORPHA:74
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Mucopolysaccharidosis, Type Iiic
Asymmetric septal hypertrophy, Hirsutism, Coarse hair, Synophrys, Heparan sulfate excretion in ur... OMIM:252930
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Red hair, Fair hair, Hypospadias, Blue irides OMIM:614613
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Iris hypopigmentation, Hypopigmentation of hair, Giant... OMIM:214500
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly OMIM:300635
Sézary Syndrome
Irregular hyperpigmentation, Abnormal lymphocyte morphology, Hepatomegaly, Nail dystrophy, Alopec... ORPHA:3162
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Increased circulating IgA level OMIM:617388
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Renal insuf... ORPHA:108
Mucopolysaccharidosis, Type Iiid
Asymmetric septal hypertrophy, Hirsutism, Coarse hair, Synophrys, Heparan sulfate excretion in ur... OMIM:252940
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Immunodeficiency 32B
Splenomegaly OMIM:226990
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Hyperpigmentation of the skin, Splenomegaly, Lym... OMIM:609981
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen... OMIM:615122
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatomegaly, Jaundice, Hepatic fibrosis, Splenomega... OMIM:616278
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries, Breast hypoplasia ORPHA:785
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Zimmermann-Laband Syndrome
Absent fingernail, Long eyelashes, Facial hypertrichosis, Hepatomegaly, Generalized hypertrichosi... ORPHA:3473
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Tangier Disease
Hepatomegaly, Nail dysplasia, Left ventricular hypertrophy, Splenomegaly, Nail dystrophy OMIM:205400
Squalene Synthase Deficiency
Hypospadias, Abnormality of hair pigmentation, Bilateral cryptorchidism, Bicuspid aortic valve OMIM:618156
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Prominent eyelashes, Lymphadenopathy, He... OMIM:616651
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Nephrotic syndrome, Splenomegaly, Hepatomegaly OMIM:615846
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
46,Xx Gonadal Dysgenesis
Abnormality of secondary sexual hair, Streak ovary, Aplasia/hypoplasia of the uterus, Sparse pubi... ORPHA:243
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Duplication Of Urethra
Dysuria, Unilateral renal hypoplasia, Penile hypospadias, Rectourethral fistula, Bifid scrotum, C... ORPHA:237
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Hirsutism, Neutropenia, Coarse hair, Anemia, Leukopenia, Low po... OMIM:617303
Naxos Disease
Onycholysis, Curly hair, Woolly hair, Abnormal morphology of right ventricular trabeculae, Sparse... OMIM:601214
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Cryptorchidism, Ventricular septal defect, Hepatomegaly, Thyroid lym... OMIM:235255
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly, Gener... ORPHA:79083
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Horseshoe kidney, Acute kidney injury, Hepatic steatosis, Absent vas deferen... ORPHA:93111
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level OMIM:618048
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Thrombocytopenia, Abnormal cardiac septum morphology, Tetralogy of Fallot, Apla... ORPHA:3320
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Renal tubular acidosis, Cardiomegaly OMIM:255120
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiomegaly, ... ORPHA:324410
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level ORPHA:277
Adams-Oliver Syndrome 5
Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy, Hypersplenism, Spleno... OMIM:616028
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Omenn Syndrome
Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy,... ORPHA:39041
Hand-Foot-Genital Syndrome
Longitudinal vaginal septum, Renal insufficiency, Bifid scrotum, Chordee, Pyelonephritis, Uretero... OMIM:140000
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Horseshoe kidney, Mitral atresia, Labial hypoplasia, Bicornuate uterus, Vesi... ORPHA:140952
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Splenomegaly, Cardiomyopathy ORPHA:90970
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Male hypogonadism, Blind vagina, Ambiguous genitalia, male, Bifid scrotum, Absent p... ORPHA:90793
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid uterus, Renal insufficiency, Horseshoe kidney, Bifid scrotum, Abnormal hear... ORPHA:322
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Cirrhosis, Thick hair, Splenomegaly OMIM:613489
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Cardiomegaly, Dica... OMIM:201475
Proteus Syndrome
Lymphangioma, Depigmentation/hyperpigmentation of skin, Splenomegaly OMIM:176920
Pulmonary Fibrosis, Idiopathic
Increased circulating antibody level OMIM:178500
Donnai-Barrow Syndrome
Bicornuate uterus, Non-acidotic proximal tubulopathy, Low-molecular-weight proteinuria, Ventricul... OMIM:222448
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000