Gene Summary

Name:
regulator of chromosome condensation 2
Synonyms:
2610510H01Rik,  2610529N02Rik,  Td60

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 Rcc2tm1b(EUCOMM)Wtsi HOM Early adult 6.67×10-08
abnormal retina morphology Rcc2tm1b(EUCOMM)Wtsi HOM   Early adult 6.05×10-05
decreased mean corpuscular volume Rcc2tm1b(EUCOMM)Wtsi HOM Early adult 8.76×10-07
increased heart weight Rcc2tm1b(EUCOMM)Wtsi HOM   Early adult 1.41×10-05
abnormal optic disk morphology Rcc2tm1b(EUCOMM)Wtsi HOM Early adult 2.40×10-05
decreased circulating total protein level Rcc2tm1b(EUCOMM)Wtsi HOM   Early adult 4.18×10-05
decreased circulating serum albumin level Rcc2tm1b(EUCOMM)Wtsi HOM   Early adult 1.78×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (3 of 3)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 33.33% (1 of 3)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (3 of 3)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (3 of 3)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (3 of 3)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (3 of 3)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (3 of 3)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (3 of 3)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 33.33% (1 of 3)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (3 of 3)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (3 of 3)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 33.33% (1 of 3)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 33.33% (1 of 3)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 33.33% (1 of 3)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 33.33% (1 of 3)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (3 of 3)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 33.33% (1 of 3)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 33.33% (1 of 3)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 100% (3 of 3)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 100% (3 of 3)
Tail N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Adult LacZ

LacZ Images Wholemount

26 Images

Echo

M-Mode Images

36 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

5 Images

Human diseases caused by Rcc2 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 Rcc2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa 42
Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Cystoid macu... OMIM:612943
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Abnormal hair morphology OMIM:152800
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Generalized hyperpigmentation ORPHA:2253
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of the fundus, Macular hypoplasia, Blue irides, Albinism, Hypopigmentation of hair OMIM:606574
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Omenn Syndrome
Severe B lymphocytopenia, Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia,... OMIM:603554
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus OMIM:606952
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Cardiomyop... OMIM:613752
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy OMIM:609055
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Decreased motor nerve conduction velocity, Decreased number of peripheral myelin... OMIM:607250
Retinitis Pigmentosa 57
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:613582
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Anemia, Iron deficiency anemia, Thrombocytosis, Hepatomegaly, Hypoproteinemia OMIM:226300
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, P... OMIM:616394
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... OMIM:603553
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Woolly hair, Abnormal retinal morphology, Br... ORPHA:170
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... OMIM:616959
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Hypopigmentation of the skin, Abnormal optic nerve morphology, Premature graying o... ORPHA:33445
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... OMIM:600138
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Anemia, Eosinophilia, Monocytopenia, Thr... OMIM:226990
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:614181
Retinitis Pigmentosa 81
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617871
Diarrhea 13
Hypoalbuminemia OMIM:620357
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocy... OMIM:209950
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... OMIM:607624
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypoplasia of the fovea, Iris trans... OMIM:619165
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Hypoproteinemia, Hypopigmentatio... ORPHA:167
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Hepatomegaly, Dilated cardiomyopathy, Microcytic anemia OMIM:618805
Johanson-Blizzard Syndrome
Alopecia, Abnormal hair pattern, Abnormal cardiac septum morphology, Dextrocardia, Anemia, Hypopr... ORPHA:2315
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Anemia, ... ORPHA:507
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Retinitis Pigmentosa 95
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:620102
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Dengue Fever
Hepatomegaly, Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... OMIM:614500
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Chorioretinal hypopigmentation, Optic atrophy, Coarse hair, Hypertrophic cardiom... OMIM:617303
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Cardiomyopathy, Leukocytosis, Splenomegaly, Nail dystrophy, Elevated circ... OMIM:615895
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Hypopigmentation of the fundus, Freckles in sun-exposed areas, Hypo... OMIM:203200
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Usher Syndrome, Type 1M
Optic disc pallor, Left ventricular hypertrophy, Drusen OMIM:618632
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Pericardial effusion, Hypera... ORPHA:26793
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Retinitis Pigmentosa 73
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... OMIM:616544
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia OMIM:619013
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... OMIM:618826
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, He... ORPHA:158061
Retinitis Pigmentosa 38
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy OMIM:613862
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:601718
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Peripapillary atrophy, Cystoid macular ede... OMIM:617123
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology ORPHA:2786
White Forelock With Malformations
Poliosis, White forelock, Atrial septal defect OMIM:277740
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness OMIM:616389
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Sparse hair, Alopecia, Increased serum bile acid concentration, Decreased circul... OMIM:242150
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Axonal degeneration, Elevated circulating creatine kinase concentration, Periphe... OMIM:208920
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypertrichosis, Splenomegaly, Hypocalcemia, Ventricular septal defect, Hepatomegaly, Hypoproteinemia OMIM:235255
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia, R... ORPHA:79476
Retinitis Pigmentosa 26
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:608380
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Alg1-Cdg
Hypoalbuminemia, Cardiomyopathy, Abnormal heart morphology ORPHA:79327
Usher Syndrome, Type Iiib
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy OMIM:614504
Amaurosis-Hypertrichosis Syndrome
Optic atrophy, Coarse hair, Thick eyebrow, Cone/cone-rod dystrophy, Abnormal eyelash morphology, ... ORPHA:1021
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Abnormality of skin p... OMIM:251270
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypertrichosis, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Ventricular septal defect, Hepato... ORPHA:1655
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, Abnormal eyebrow morphology, White forelo... ORPHA:897
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Retinopathy OMIM:610951
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Hepatomegaly, Perimembranous vent... OMIM:608104
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic... OMIM:617087
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein conc... ORPHA:2070
Retinitis Pigmentosa 79
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:617460
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r... ORPHA:766
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Congenital Enterovirus Infection
Hypoalbuminemia, Cardiomyopathy, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage mo... ORPHA:292
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Fair hair, Generalized hypopigmentation OMIM:113750
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Numerous pigmented freckles, Chorioretinal coloboma, Patchy hypo- and hyperpigmen... OMIM:601706
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Concentric hypertrophic cardiomyopathy, Retinal degeneration... OMIM:204200
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Optic ... ORPHA:79433
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Optic d... OMIM:619170
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... OMIM:613265
Leber Congenital Amaurosis 9
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... OMIM:608553
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy OMIM:604393
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin... OMIM:618528
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Fine hair, Tetralo... OMIM:222470
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Al Amyloidosis
Hypoalbuminemia, Abnormal cardiac ventricle morphology, Howell-Jolly bodies, Postural hypotension... ORPHA:85443
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Retinitis Pigmentosa 1
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:180100
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Abnormal circulating homocysteine concentrat... ORPHA:88618
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Attenuation of retinal blood vessels, Hypertrichosis OMIM:617082
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Spinocerebellar Ataxia, Autosomal Recessive 29
Peripheral axonal neuropathy, Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiamine-responsive ... OMIM:249270
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Atrial septal defect, Hepatomegaly, Pericardi... OMIM:608776
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Optic atrophy, Hepatosplenomegaly, Hemolytic anemia, Chorioretinal atrophy, Left... OMIM:619487
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Double... ORPHA:1667
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Abnor... ORPHA:158048
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Optic atrophy, Hypertrichosis, Abnormal heart morphology, Hypertrophic cardiomyo... ORPHA:505248
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Hemolytic anem... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Hemolytic anem... ORPHA:529799
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:540
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... ORPHA:895
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Splenomegaly, Retinal degeneration, Cone/cone-rod dystrophy, Rod-cone dystrophy OMIM:602271
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, ... OMIM:204100
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia, Ventricular septal defect OMIM:616730
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypopigmentation of the fundus, Hypocholesterolemia, Abnorm... ORPHA:14
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy, Elevated circulating creatine kinase concentration OMIM:613151
Cone-Rod Dystrophy, X-Linked, 3
Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Retinal detachment, Optic disc pall... OMIM:300476
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... OMIM:616170
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Ret... ORPHA:3437
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly, Optic disc ... OMIM:611490
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, Optic nerve misrouting, Hypoplasia o... ORPHA:352731
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme... OMIM:609049
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Optic atrophy, Hypertrophic cardiomyopathy, Hyperalaninemia, Chorioretinal hyper... OMIM:618329
Retinitis Pigmentosa 12
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:600105
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Facial palsy OMIM:615085
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Mpi-Cdg
Hypoalbuminemia, Hepatomegaly ORPHA:79319
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Retinitis Pigmentosa 10
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... OMIM:180105
Reni Syndrome
Hypoalbuminemia, Lymphopenia, Hyperpigmentation of the skin, Hypertriglyceridemia OMIM:617575
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... OMIM:612095
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyocyte morphology, H... ORPHA:367
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Rod-cone d... OMIM:311070
Sarcosinemia
Hypertrophic cardiomyopathy, Optic atrophy, Pulmonic stenosis, Hypersarcosinemia ORPHA:3129
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... OMIM:604116
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Abnormal pericardium morphology, Leukocytosis, Constrictive pericarditis, Anemia ORPHA:67
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog... OMIM:612561
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Cardiomyopathy, Leukopenia, Hyperammonemia, Macrocytic anemia, Anemia, Thrombocyto... ORPHA:27
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:613617
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Liver Disease, Severe Congenital
Dry hair, Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, At... OMIM:619991
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Multiple muscular ventricular septal defects, Pulmonic stenosis, Sparse hair, Hy... OMIM:615508
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Melanocytic... ORPHA:79434
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Avian Influenza
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... ORPHA:454836
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Cardiomyopathy, Hyperammonemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopeni... ORPHA:79312
Fetal Cytomegalovirus Syndrome
Optic atrophy, Chorioretinitis, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia, Retinal hem... ORPHA:294
Woods Syndrome
Hypoplastic fifth toenail, Optic atrophy, Supernumerary nipple, Ventricular septal defect, Broad ... OMIM:615236
Retinitis Pigmentosa 46
Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:612572
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Alopecia, Hypomagnesemia, Hypocalcemia, Splenomegaly, Decreased circulating prea... ORPHA:37042
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Ventricular septal defect, Megaloblastic anemia, Atrial septal defect, Thrombocyto... ORPHA:49827
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Abnormal autonomic n... OMIM:598500
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hepatomegaly, Hyperbilirubinemia OMIM:613070
Abetalipoproteinemia
Peripheral demyelination, Acanthocytosis, Retinopathy, Abetalipoproteinemia, Retinal degeneration OMIM:200100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Hyperammonemia, Anemia, Neutropenia, Thrombocytopenia, Hepatomegaly ORPHA:289916
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Anemia, Papilledema, Eosinophilia, Elevated circulating C-react... OMIM:607115
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Alg12-Cdg
Abnormal peripheral nervous system morphology, Hypoalbuminemia, Small nail, Biventricular hypertr... ORPHA:79324
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Optic atrophy, Elevated circulating tiglylglycine concentration, Ret... OMIM:300438
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Optic atrophy, Retrobulbar optic neuritis, Abnormal leukocyte morphology ORPHA:3151
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... OMIM:277580
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Retinitis Pigmentosa 49
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613756
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Optic atrophy, Optic disc pallor OMIM:612989
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Alopecia, Hypopigmentation of the skin, Nail dystrophy, Generalized reticulate b... ORPHA:79396
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Optic Atrophy 14
Optic disc pallor OMIM:620550
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatomegaly OMIM:602579
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Abnormal heart morphology, Alopecia, Hypopigmentation of hair ORPHA:1067
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Cardiomyopathy, Hypocholesterolemia, Rod-cone dystrophy, Thrombocytosis, Hepatom... OMIM:212065
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio OMIM:617272
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Alopecia totalis, Ventricular septal defect, Elevated circulating cr... OMIM:618775
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Elevated circu... OMIM:251880
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... OMIM:613581
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Sensory axonal neuropathy, Cardiomyopathy, Elevated circulating creatine kinase co... ORPHA:254886
Xfe Progeroid Syndrome
Hypoalbuminemia, Optic atrophy, Attenuation of retinal blood vessels OMIM:610965
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ... ORPHA:85451
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Increased mean corpuscular volume, Aplastic anemia, Premature graying of hair, Lymphope... OMIM:127550
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Perica... OMIM:614702
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Optic atrophy, Biventricular hypertrophy OMIM:618236
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, Aganglionic megacolon, White ey... ORPHA:2884
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Hypokalemia OMIM:174900
Retinitis Pigmentosa 72
Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... OMIM:616469
Jalili Syndrome
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... OMIM:217080
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration OMIM:618838
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Small nail, Persistence of hemoglobin F, Panc... OMIM:617052
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, ... OMIM:234050
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Ocular a... OMIM:214500
Squalene Synthase Deficiency
Hypocholesterolemia, Abnormality of hair pigmentation, Bicuspid aortic valve, Decreased LDL chole... OMIM:618156
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... OMIM:613839
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Abnormal optic nerve morphology, Ocular albi... ORPHA:79431
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Optic atrophy, Hyperalaninemia, Retinal degeneration OMIM:616896
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules OMIM:614072
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmented skin patches, Abnormal circulating lipid c... ORPHA:381
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Alopecia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Leukope... ORPHA:2298
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Situs inversus totalis, Rod-cone dystrophy, Macular atrophy OMIM:615434
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Mi... OMIM:616648
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Peripheral axonal neuropathy OMIM:620221
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy, Highly arched eyebrow OMIM:617121
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia ORPHA:29073
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Juvenile Paget Disease
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation, Hyperuricemia ORPHA:2801
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Ventricular septal defect, Hirsutism, Atrial septal defect, Pericardial effusion... OMIM:235510
Retinitis Pigmentosa 14
Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... OMIM:600132
Retinitis Pigmentosa 60
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:613983
Srd5A3-Cdg
Optic atrophy, Optic disc hypoplasia, Spotty hyperpigmentation, Hypertrichosis, Microcytic anemia... ORPHA:324737
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia, Premature graying of hair OMIM:620367
Leptospirosis
Macular cotton wool spot, Chorioretinitis, Hepatomegaly, Optic neuritis, Papilledema, Thrombocyto... ORPHA:509
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia OMIM:254900
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Ventricular hypertrophy, Tetralogy of Fallot, Nail dystrophy, Atrial septa... OMIM:300887
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Optic atrophy, Hypopigmentation of the skin, Small nail OMIM:251300
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Pericardial ef... OMIM:618183
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... ORPHA:364055
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Hyperpigmentation of the... ORPHA:186
Osteopetrosis, Autosomal Recessive 9
Anemia, Elevated circulating creatinine concentration, Papilledema, Hyperkalemia OMIM:620366
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Motor axonal neuropathy, Abnormal retinal nerve fiber layer morpho... ORPHA:1215
Proximal Myopathy With Extrapyramidal Signs
Peripheral axonal neuropathy, Optic atrophy, Mildly elevated creatine kinase ORPHA:401768
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:600649
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Chorioretinal coloboma ORPHA:1473
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Epiretinal me... ORPHA:67042
Infantile Refsum Disease
Optic atrophy, Cardiomyopathy, Elevated circulating phytanic acid concentration, Rod-cone dystrop... ORPHA:772
Zika Virus Disease
Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... ORPHA:448237
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Abnormal heart morphology, Atrial septal defect, Anemia, Refractory anemia ORPHA:79076
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ... OMIM:277410
Cinca Syndrome
Abnormality of neutrophils, Pseudopapilledema, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, ... ORPHA:1451
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Wilson Disease
Hypouricemia, Hypoalbuminemia, Decreased nerve conduction velocity, Hemolytic anemia, Hyperbiliru... OMIM:277900
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Dilated cardiomyopathy, Increased mean corpuscular volume, Ventricular sep... ORPHA:261250
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc... ORPHA:2169
Null Syndrome
Optic atrophy, Peripheral demyelination, Abnormality of peripheral nerve conduction, Decreased ne... ORPHA:280234
Carney Complex, Type 1
Multiple lentigines, Schwannoma, Pheochromocytoma, Hirsutism, Cardiac myxoma, Freckling, Red hair... OMIM:160980
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Retinal arteriolar constriction OMIM:249660
Incontinentia Pigmenti
Supernumerary nipple, Hypoplasia of the fovea, Retinal detachment, Sparse hair, Onychogryposis, A... OMIM:308300
Hermansky-Pudlak Syndrome 11
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Hypopla... OMIM:619172
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Reduced circulating transferrin concentration, Hypocholesterolemia, Lymphopenia,... ORPHA:90363
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Kawasaki Disease
Hypoalbuminemia, Abnormality of nail color, Double outlet right ventricle with subpulmonary ventr... ORPHA:2331
Wildervanck Syndrome
Low posterior hairline, Pseudopapilledema, Facial palsy ORPHA:3456
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Hypoplasia of the fovea, Absent skin pigmentation, Blue irides, Albi... OMIM:203100
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Obesity And Hypopigmentation
Red hair OMIM:620195
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Peripheral demyelination, Attenuation of retinal blood ves... OMIM:609033
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Facial paralysis, Extramedullary hematopoiesis, Cranial nerve compression, Hepatos... OMIM:259710
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Retinopathy... OMIM:603903
Juvenile Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu... ORPHA:98977
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Hypocholesterolemia, Abnormal erythrocyte morphology, Acan... ORPHA:96180
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Dilated cardiomyopathy, Normochromic microcytic anemia, Noncompaction cardiomyopat... OMIM:610198
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Cardiomyopathy, Sideroblastic anemia, Megaloblastic anemia... OMIM:222300
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra... ORPHA:99826
Shwachman-Diamond Syndrome
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Leukemia, Increased mean corpuscular volume, ... ORPHA:811
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Cardiomyopathy, Ocular albinism, Melanocytic nevus, Freckles in sun... OMIM:203300
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Pancytopenia, Hypocalcemia, Splenomegaly, Anemia, Thrombocytopen... OMIM:259700
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N... ORPHA:3322
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal heart morphology, Hypopigmentation of hair, Hypertrophic cardiomyopathy ORPHA:70472
Ataxia-Telangiectasia
Lymphopenia, Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Attenuation of retinal blood vessels, Leukocytosis,... OMIM:610377
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Splenomegaly, Hepatomegaly, Hypopigmentation of hair, Cafe-au-lait ... OMIM:618541
Multiple Sulfatase Deficiency
Optic atrophy, Coarse hair, Thick eyebrow, Abnormality of retinal pigmentation, Abnormality of pe... ORPHA:585
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia, Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Onycholysis, Sparse... OMIM:614748
Syndromic Diarrhea
Abnormal heart morphology, Tetralogy of Fallot, Lymphopenia, Trichorrhexis nodosa, Brittle hair, ... ORPHA:84064
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Increased mean corpuscular volume, Tetralogy of Fallot, Macrocytic... OMIM:612562
Mogs-Cdg
Optic atrophy, Alopecia, Fair hair, Hepatosplenomegaly, Long eyelashes, Hirsutism, Cardiomegaly, ... ORPHA:79330
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy OMIM:535000
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Vici Syndrome
Dilated cardiomyopathy, Hypopigmentation of the skin, Hypopigmentation of the fundus, Cardiomyopa... OMIM:242840
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia... OMIM:251900
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Decreased proportion of naive T cells, Spleno... OMIM:619381
Juvenile Polyposis Syndrome
Anemia, Hypoproteinemia ORPHA:2929
Waardenburg Syndrome