Gene Summary

Name:
ring finger protein 168
Synonyms:
3110001H15Rik

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 skin morphology Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating lactate dehydrogenase level Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 1.38×10-22
fused cornea and lens Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 1.39×10-08
abnormal retina blood vessel morphology Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 4.39×10-06
decreased body weight Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 1.54×10-17
increased grip strength Rnf168em1(IMPC)H HOM   Early adult 5.35×10-06
decreased hematocrit Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 2.80×10-06
abnormal head morphology Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 6.66×10-11
increased circulating creatine kinase level Rnf168em1(IMPC)H HOM Early adult 1.22×10-10
abnormal retina morphology Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 7.95×10-08
decreased hemoglobin content Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 1.13×10-08
abnormal thymus morphology Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 0.00
microphthalmia Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 0.00
anophthalmia Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 0.00
narrow eye opening Rnf168em1(IMPC)H HOM Early adult 2.57×10-12
vertebral fusion Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 4.07×10-06
abnormal spine curvature Rnf168tm2b(EUCOMM)Hmgu HOM   Early adult 7.34×10-06
increased circulating alanine transaminase level Rnf168em1(IMPC)H HOM Early adult 1.02×10-08
increased eosinophil cell number Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 4.58×10-08
enlarged heart Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating phosphate level Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 1.90×10-07
abnormal cranium morphology Rnf168tm2b(EUCOMM)Hmgu HOM   Early adult 5.62×10-06
eyelids fail to open Rnf168em1(IMPC)H HOM Early adult 2.57×10-05
abnormal cornea morphology Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 2.61×10-05
corneal opacity Rnf168em1(IMPC)H HOM Early adult 9.82×10-07
increased grip strength Rnf168tm2b(EUCOMM)Hmgu HOM   Early adult 3.52×10-05
abnormal heart morphology Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal eye morphology Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 0.00
decreased erythrocyte cell number Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 5.33×10-09
increased circulating creatine kinase level Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 5.02×10-12
abnormal coat/hair pigmentation Rnf168em1(IMPC)H HOM Early adult 1.31×10-08
enlarged thymus Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 0.00
increased mean platelet volume Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 9.42×10-07
increased circulating aspartate transaminase level Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 6.73×10-44
increased circulating alanine transaminase level Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 4.31×10-12
decreased spleen weight Rnf168em1(IMPC)H HOM   Early adult 3.13×10-05
cataract Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 2.66×10-05
abnormal retina vasculature morphology Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 1.04×10-05
abnormal optic disk morphology Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 9.83×10-07
abnormal spleen morphology Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal snout morphology Rnf168em1(IMPC)H HOM Early adult 3.78×10-05
abnormal lens morphology Rnf168tm2b(EUCOMM)Hmgu HOM Early adult 4.61×10-06

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 0.0% (0 of 2)
Aorta  Section images heterozygote Ambiguous
Bone  Section images heterozygote 0.0% (0 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 0.0% (0 of 2)
Brown adipose tissue  Section images heterozygote 0.0% (0 of 2)
Cartilage tissue  Section images heterozygote 0.0% (0 of 2)
Cecum  Section images heterozygote Ambiguous
Cerebellum  Section images heterozygote 0.0% (0 of 2)
Cerebral cortex  Section images heterozygote 0.0% (0 of 2)
Chest bone  Section images heterozygote 0.0% (0 of 2)
Colon  Section images heterozygote Ambiguous
Cranium  Section images heterozygote 0.0% (0 of 2)
Diaphragm  Section images heterozygote 0.0% (0 of 2)
Duodenum  Section images heterozygote 100% (2 of 2)
Esophagus  Section images heterozygote 0.0% (0 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gall bladder  Section images heterozygote 0.0% (0 of 2)
Harderian gland  Section images heterozygote 50% (1 of 2)
Heart  Section images heterozygote 50% (1 of 2)
Hippocampus  Section images heterozygote 0.0% (0 of 2)
Hypothalamus  Section images heterozygote 0.0% (0 of 2)
Ileum  Section images heterozygote Ambiguous
Jejunum  Section images heterozygote Ambiguous
Kidney  Section images heterozygote Ambiguous
Large intestine  Section images heterozygote 0.0% (0 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lower urinary tract  Section images heterozygote Ambiguous
Lung  Section images heterozygote 0.0% (0 of 2)
Lymph node  Section images heterozygote 0.0% (0 of 2)
Mammary gland  Section images heterozygote 0.0% (0 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Oral epithelium  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 0.0% (0 of 2)
Parathyroid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 0.0% (0 of 2)
Peripheral nervous system  Section images heterozygote 0.0% (0 of 2)
Peyer's patch  Section images heterozygote 0.0% (0 of 2)
Pituitary gland  Section images heterozygote 0.0% (0 of 2)
Prostate gland  Section images heterozygote 0.0% (0 of 2)
Quadriceps  Section images heterozygote 0.0% (0 of 2)
Skeletal muscle  Section images heterozygote 0.0% (0 of 2)
Skin  Section images heterozygote 0.0% (0 of 2)
Small intestine  Section images heterozygote Ambiguous
Spinal cord  Section images heterozygote 0.0% (0 of 2)
Spleen  Section images heterozygote 0.0% (0 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 0.0% (0 of 2)
Testis  Section images heterozygote 0.0% (0 of 2)
Thymus  Section images heterozygote 0.0% (0 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 0.0% (0 of 2)
Urinary bladder  Section images heterozygote Ambiguous
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote Not available
Vascular system  Section images heterozygote 0.0% (0 of 2)
White adipose tissue  Section images heterozygote 0.0% (0 of 2)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote Not available
Epididymis N/A heterozygote Not available
Gonadal fat pad N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Main olfactory bulb N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote Not available
Parotid gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Sublingual gland N/A heterozygote Not available
Thalamus N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote Not available
Vas deferens N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote 0.0% (0 of 2)
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forearm N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Lower leg N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
Chorioallantoic placenta N/A heterozygote Not available
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Upper arm N/A heterozygote 0.0% (0 of 2)
Upper leg N/A heterozygote 0.0% (0 of 2)
Vibrissa N/A heterozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
lower leg Ambiguous
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
placenta Ambiguous
skeleton Ambiguous
skin 0.0%
tail 0.0%
tail somite group 0.0%
upper arm Ambiguous
upper leg Ambiguous
vibrissa Ambiguous

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 Section

220 Images

X-ray

XRay Images Hind Leg and Hip

28 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

28 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Human diseases caused by Rnf168 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 Rnf168 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Rnf168 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Abnormality of chromosome stability, Decreased circulating antibody le... ORPHA:859
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ... OMIM:618165
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Papilledema, Transient hypophosphatemia, Increased bone mineral density, Smal... OMIM:127000
Tietz Syndrome
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... ORPHA:42665
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Ataxia-Telangiectasia
Lymphopenia, Abnormality of chromosome stability, Diabetes mellitus, Decreased circulating antibo... ORPHA:100
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
N Syndrome
Cryptorchidism, Leukemia, Hypospadias, Abnormality of chromosome stability OMIM:310465
Cinca Syndrome
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, P... OMIM:607115
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Delayed cranial suture closure, Delayed skeletal maturation, Bilateral microphthalmo... ORPHA:93325
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Telecanthus, Hypermelanotic macule, White hair, Blue irides, Premat... OMIM:619947
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce... OMIM:210250
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Woolly Hair
Hypopigmentation of hair, Cataract, Slow-growing hair, Brittle hair, Abnormality of hair texture,... ORPHA:170
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Abnormal cardiac ... ORPHA:3319
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Linear Verrucous Nevus Syndrome
Cataract, Genu recurvatum, Reduced bone mineral density, Abnormal cornea morphology, Scoliosis, H... ORPHA:2611
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Thoracic scoliosis, Cataract, Macular atrophy, Optic atrophy, Microcornea, Lum... OMIM:616171
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Ventricular septal defect, Retinal d... OMIM:616651
Myh9-Related Disease
Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Presenile cataracts... ORPHA:182050
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Thoracolumbar scoliosis, Eosinophilia, Craniosynostosis, Keratitis, Hip dislocation,... OMIM:618523
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Pseudohypoparathyroidism, Type Ic
Cataract, Short neck, Osteoporosis, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocal... OMIM:612462
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Sanjad-Sakati Syndrome
Hypoparathyroidism, Corneal opacity, Patchy osteosclerosis, Cryptorchidism, Delayed skeletal matu... ORPHA:2323
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cataract, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Walker-Warburg Syndrome
Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Ca... ORPHA:899
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy... OMIM:239000
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Pseudohypoparathyroidism, Type Ia
Cataract, Short neck, Osteoporosis, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Subcuta... OMIM:103580
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... OMIM:169400
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impotence, Testicula... OMIM:235200
Autoimmune Hypoparathyroidism
Increased bone mineral density, Cataract, Autoimmune hypoparathyroidism, Hyperphosphatemia, Conju... ORPHA:36913
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... OMIM:212050
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c... OMIM:615513
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Biconvex vertebral bodies, Retinal dystrophy, Eosi... ORPHA:353298
Ceroid Lipofuscinosis, Neuronal, 9
Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy OMIM:609055
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Failure to thrive in infancy, Microcytic anemia, Dilated cardiomyopathy, ... OMIM:618805
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Gonadal dysgenesis... OMIM:611926
Gómez-López-Hernández Syndrome
Toenail dysplasia, Telecanthus, Alopecia of scalp, Corneal opacity ORPHA:1532
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Wide nasal bridge, Prematu... OMIM:193510
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Ventricular septal defect, Corneal o... ORPHA:290
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Facial palsy, Elevated circulating creatine kinase concentration, Flexion cont... OMIM:613155
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Failure to thrive in infancy, Cardiomegaly, Th... ORPHA:858
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Accelerated skeletal maturation, Cryptorchidism, Neonatal epiphyseal s... OMIM:101800
Trisomy 13
Anophthalmia, Ventricular septal defect, Cataract, Abnormal retinal vascular morphology, Cryptorc... ORPHA:3378
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Waardenburg Syndrome Type 2
Telecanthus, Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, Whi... ORPHA:895
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Flexion contracture, Facial palsy, Elevated circulating creatine kinase concentration OMIM:253600
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Lathosterolosis
Cataract, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Lumbosacral menin... OMIM:607330
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Hepatomegaly, Corneal opacity ORPHA:2432
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... OMIM:155100
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Spa... OMIM:602400
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hepatomegaly, Anophthalmia, Cataract, Foot joint contracture... ORPHA:90321
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Cofs Syndrome
Abnormality of retinal pigmentation, Prominent metopic ridge, Cataract, Camptodactyly of finger, ... ORPHA:1466
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
Corneal Dystrophy, Reis-Bucklers Type
Palpebral edema, Corneal dystrophy, Corneal opacity, Corneal erosion, Opacification of the cornea... OMIM:608470
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular ... OMIM:204200
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Dermoids Of Cornea
Corneal opacity OMIM:304730
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Winchester Syndrome
Corneal opacity, Hirsutism OMIM:277950
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility ORPHA:2582
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Cataract, Decreased response to growth hormone stimul... ORPHA:94089
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Cryptorchidism, Del... OMIM:241410
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... OMIM:607624
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Supernumerary nipple, Kyphos... OMIM:308300
Trichohepatoenteric Syndrome 1
Hepatomegaly, Failure to thrive, Ventricular septal defect, Small for gestational age, Increased ... OMIM:222470
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia ORPHA:1980
Kniest Dysplasia
Arthropathy, Rhegmatogenous retinal detachment, Enlarged joints, Short neck, Delayed epiphyseal o... ORPHA:485
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Cryptor... OMIM:611209
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Retinal dystrophy, Cataract, Sclerocornea, Cryptorchidism, Microcornea, Chorioretin... ORPHA:139471
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Microphthalmia, Syndromic 5
Joint laxity, Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasi... OMIM:610125
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Decreased fert... OMIM:210900
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Obesity, Pseudohypoparathyroidism OMIM:603233
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... ORPHA:1473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... OMIM:613153
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Keratitis, Synophrys, Wide nasal bridge, Conjunctivitis, Long palpebral fissure,... OMIM:602562
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Iris cyst, Optic atrophy OMIM:620086
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Cryptorchidism, Optic atrophy, Abnormal cardiac septum morphology... OMIM:616737
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis ORPHA:157991
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... ORPHA:2070
Warburg Micro Syndrome 1
Kyphoscoliosis, Cryptorchidism, Optic atrophy, Osteoporosis, Developmental cataract, Microcornea,... OMIM:600118
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Unilateral microphthal... OMIM:615085
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent fractures, Eosinophilia, Craniosynostosis, Scoliosis, Joint hypermobility, ... OMIM:147060
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... OMIM:231200
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Hepatic cysts, Abnormality of the tes... ORPHA:400
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Facial palsy, Elevated circulating creatine kinase concentra... OMIM:606612
Verheij Syndrome
Joint laxity, Vertebral fusion, Small for gestational age, Ventricular septal defect, Optic nerve... OMIM:615583
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Eosinophilia ORPHA:26137
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... OMIM:609053
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism OMIM:203330
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Syndromic Diarrhea
Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Small for gestationa... ORPHA:84064
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
2Q24 Microdeletion Syndrome
Cataract, Small for gestational age, Camptodactyly of finger, Short neck, Abnormality iris morpho... ORPHA:1617
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Decreased circulating antibody level, Neutropen... OMIM:193670
Lissencephaly 8
Microphthalmia, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:617255
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Splenomegaly, Infertility, Erec... ORPHA:465508
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Cataract, Decreased response to growth hormone stimul... ORPHA:79444
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen... OMIM:615181
Galactosialidosis
Corneal opacity ORPHA:351
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Oculomaxillofacial Dysostosis
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Wide nasal bridge, Upsl... ORPHA:1794
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Cataract, Decreased response to growth hormone stimul... ORPHA:79443
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Telecanthus, White eyelashes, White eyebrow, Abnormality of retinal ... ORPHA:897
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Pseudopseudohypoparathyroidism
Ectopic ossification, Hypocalcemia, Hyperphosphatemia, Obesity ORPHA:79445
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Chromosomal breakage induced by crosslink... OMIM:616435
Microphthalmia, Syndromic 13
Kyphoscoliosis, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:300915
Immunodeficiency 88
Eosinophilia OMIM:619630
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid... ORPHA:2239
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Microphthalmia OMIM:615524
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
Atopic Keratoconjunctivitis
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... ORPHA:163934
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 54
Chromosome breakage, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal i... OMIM:609981
Waardenburg Syndrome Type 1
Telecanthus, White eyelashes, White eyebrow, Hypopigmentation of hair, Abnormal hair morphology, ... ORPHA:894
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Icf Syndrome
Abnormality of chromosome stability, Abnormality of neutrophils, Decreased circulating antibody l... ORPHA:2268
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Lumbar hyperlordosis, Optic nerve hypoplasia, Elevated circulating ... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Elevated circulating creatine kinase concentration, Abnormally large globe, Flexion con... OMIM:615249
Lig4 Syndrome
Hypoplasia of penis, Pancytopenia, Abnormality of chromosome stability, Cryptorchidism, Leukocyto... ORPHA:99812
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Arthritis, Coombs-... OMIM:304790
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Incontinentia Pigmenti
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Eosinophilia, Corneal opacity, S... ORPHA:464
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Erythrokeratodermia Variabilis
Alopecia, Cataract, Corneal opacity, Hypermelanotic macule, Abnormal hair morphology, Abnormality... ORPHA:317
Bartsocas-Papas Syndrome
Corneal opacity, Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Sp... ORPHA:1234
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Obesity, Cataract OMIM:615995
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Aspergillosis
Osteomyelitis, Eosinophilia, Keratitis, Vitritis, Hepatitis, Abnormality of the vertebral column,... ORPHA:1163
Mevalonic Aciduria
Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Failure to thrive in infancy, Elevate... OMIM:610377
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Increased circulating ferritin concentration, Elevated transferrin satura... OMIM:606069
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Cataract, Abnormal... ORPHA:85194
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... ORPHA:39041
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... ORPHA:98813
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lym... OMIM:607594
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Hypoparathyroidism, ... ORPHA:199299
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Fibular Hemimelia
Joint laxity, Anophthalmia, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitatio... ORPHA:93323
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyp... OMIM:617404
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral fusion, Anophthalmia, Ventricular septal defect, Optic nerve hypop... OMIM:206900
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia, Increased body weight ORPHA:94086
Fanconi Anemia, Complementation Group O
Cryptorchidism, Chromosome breakage, External genital hypoplasia OMIM:613390
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,... OMIM:227650
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Camptodactyly of finger, Kyphosis, Osteoporosis, Microcornea, Abnormality of peripheral... ORPHA:48431
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg... ORPHA:324416
Holoprosencephaly
Hyponatremia, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Failu... ORPHA:2162
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Kimura Disease
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia ORPHA:482
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... OMIM:613702
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Ventricular septal defect, Sclerocornea, Cryptorchidism, Hemivertebrae, Microphthal... ORPHA:77298
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Macroorchidism, Elevated circulat... ORPHA:562
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Microcytic anemia, Optic atrophy, Coloboma, Microphthalmia, Failure to thrive OMIM:612379
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus, Conjunctival whitish salt-like depo... OMIM:211900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... ORPHA:277
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Failure to thrive, Optic atrophy, Coloboma OMIM:274270
Prune1-Related Neurological Syndrome
Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Scoliosis, Hypertrop... ORPHA:544469
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenop... ORPHA:79292
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Ankle swelling, Wrist swelling, Retinal pigment epithelia... ORPHA:448237
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... ORPHA:94090
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Chromosomal break... OMIM:600901
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Griscelli Syndrome Type 2
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Hyperlipide... ORPHA:79477
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Thrombocytopenia, Optic atrophy, Hyperammonemia, Cardiomyopathy, Neut... ORPHA:79312
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri... OMIM:601706
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Platyspondyly, Scoliosis, Rod-cone dystroph... OMIM:602271
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2902
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Chromosomal break... OMIM:227645
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Hepatomegaly, Cataract, Ventricular septal defect, Cryptorchidism, Microphthalmia OMIM:613730
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Chromo... OMIM:605724
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia, Cryptorchidism, Kyphosis, Flexion contracture, Developmental cataract... ORPHA:90322
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Microcyti... ORPHA:324737
Gorlin Syndrome
Vertebral fusion, Cataract, Cryptorchidism, Hemivertebrae, Vertebral wedging, Scoliosis, Iris col... ORPHA:377
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Abnormality of the lymphatic system, Optic atrophy, Flexion contr... ORPHA:487796
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... OMIM:607155
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Keratoconus Posticus Circumscriptus
Keratoconus, Limited elbow extension and supination, Short neck, Central posterior corneal opacit... OMIM:244600
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lymphopenia, Autoimmune hemolytic ane... ORPHA:331206
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Eosinophilia, Spinal canal stenosis, Cutaneous abscess, Pulmonic stenosis, Atrial ... OMIM:618282
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Eosinophilic Fasciitis
Arthritis, Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, H... OMIM:204000
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract ORPHA:2528
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Retinal detachment, Joint laxity, Corneal opacity, Osteoporosis, Abnormal vitreous hu... ORPHA:2788