Gene Summary

Name:
ADAM metallopeptidase with thrombospondin type 1 motif 18
Synonyms:
E130314N14Rik

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
cataract Adamts18tm1.1(KOMP)Vlcg HOM Early adult 3.50×10-10
increased mean corpuscular volume Adamts18tm1.1(KOMP)Vlcg HOM Early adult 5.07×10-08
decreased mean corpuscular hemoglobin concentration Adamts18tm1.1(KOMP)Vlcg HOM Early adult 2.54×10-06
abnormal vitreous body morphology Adamts18tm1.1(KOMP)Vlcg HOM Early adult 2.10×10-15
increased hematocrit Adamts18tm1.1(KOMP)Vlcg HOM Early adult 5.64×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (4 of 4)
Cerebellum  Wholemount images heterozygote 50% (2 of 4)
Chest bone  Wholemount images heterozygote 50% (2 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Eye  Section images heterozygote 50% (2 of 4)
Ileum  Section images heterozygote 50% (2 of 4)
Mammary gland  Section images heterozygote 25% (1 of 4)
Midbrain  Wholemount images heterozygote 50% (2 of 4)
Prostate gland  Section images heterozygote 25% (1 of 4)
Testis  Wholemount images  Section images heterozygote 50% (2 of 4)
Tongue  Section images heterozygote 25% (1 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (2 of 4)
Cerebral cortex N/A heterozygote Not available
Colon N/A heterozygote 50% (2 of 4)
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 4)
Kidney N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 50% (2 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 50% (2 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (2 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
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
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%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 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%
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%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

24 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Adult LacZ

LacZ Images Wholemount

7 Images

X-ray

XRay Images Forepaw

10 Images

Histopathology

Images

2 Images

Human diseases caused by Adamts18 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 Adamts18 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract OMIM:615458

The table below shows human diseases predicted to be associated to Adamts18 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Verrucae OMIM:613860
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:613496
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in... OMIM:602088
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Bilateral renal agenesis, Pulmonary hypoplasia OMIM:619887
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Renal Hypodysplasia/Aplasia 2
Bilateral renal agenesis, Pulmonary hypoplasia OMIM:615721
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Pulmonary cyst, Enlarged kidney OMIM:618272
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Abnormal in... OMIM:619079
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Lymphoid Interstitial Pneumonia
Hepatomegaly, Multiple pulmonary cysts, Crackles, Respiratory tract infection, Dyspnea, Wheezing,... ORPHA:79128
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Renal Tubular Dysgenesis
Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Renotubular dysgen... ORPHA:3033
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... ORPHA:1046
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, F... OMIM:300635
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
3-Methylglutaconic aciduria, Apnea, Pulmonary hypoplasia OMIM:615228
Immunodeficiency 76
B-cell lymphoma, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis OMIM:619164
Visceral Myopathy 2
Necrotizing enterocolitis, Intestinal obstruction, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Pulmonary hypoplasia, Renal dysplasia ORPHA:3032
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume OMIM:185000
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin... OMIM:617638
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias, Respiratory insufficiency ORPHA:2487
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Abnormal lung lobation, Pulmonary hypoplasia, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Inflammation of the large intestine, Crohn's disease, Mucoid di... OMIM:615767
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm ORPHA:46488
Immunodeficiency 70
Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia, Verrucae OMIM:618969
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased m... OMIM:616959
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Diaphanospondylodysostosis
Respiratory distress, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Respiratory insuff... OMIM:608022
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Pulmonary hypoplasia, Hydronephrosis, Enlarged kidney OMIM:314390
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia OMIM:615234
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis... OMIM:618394
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Trichomegaly
Cataract OMIM:190330
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne OMIM:604416
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Anterior uveitis, Colitis, Skin rash OMIM:616744
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia, Abnormal renal corticomedullary differentiation, Left... OMIM:616733
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... OMIM:619281
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresi... OMIM:243150
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Lacticaciduria, Pulmonary ... OMIM:619003
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia ORPHA:2169
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... OMIM:618108
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Colitis, Abnormal pulmonary interstitial morphology... OMIM:613101
Renal Tubular Dysgenesis
Anuria, Respiratory insufficiency, Abnormality of the urinary system, Pulmonary hypoplasia, Renot... OMIM:267430
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, ... OMIM:617303
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic sinusitis, Bronchiectasis OMIM:253240
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pulmonary hypoplasia, Extrapulmonary sequestrum, Cystic renal dysplasia, Enlarged k... OMIM:200995
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Recurrent upper respira... ORPHA:436159
Kaposiform Lymphangiomatosis
Epistaxis, Splenomegaly, Abnormal lung morphology, Dyspnea, Hepatosplenomegaly, Multiple renal cy... ORPHA:464329
Immunodeficiency 58
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Helicobacter pylori infe... OMIM:618131
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... OMIM:614878
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Prune Belly Syndrome
Recurrent respiratory infections, Renal insufficiency, Multicystic kidney dysplasia, Hydroureter,... ORPHA:2970
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... OMIM:208540
Immunodeficiency 40
Rectal fistula, Respiratory tract infection, Recurrent pneumonia, Chronic diarrhea, Interstitial ... OMIM:616433
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Fetal pyelectasis, Pulmonary hypoplasia OMIM:616531
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Ureteral stenosis, Apnea, Asthma... ORPHA:2257
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... ORPHA:86839
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Recurrent upper respiratory tract i... OMIM:209920
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Increased mean corpuscular volume, Astigmatism, Thrombocytopenia ORPHA:261250
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... ORPHA:124
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis OMIM:611590
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Recur... OMIM:616726
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Secreto... OMIM:616050
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Villous atrophy, Lymphoproliferative disord... OMIM:614700
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Apnea, Neonatal respira... OMIM:608836
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphoproliferative disorder, Lymphade... ORPHA:911
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic sinusitis OMIM:615294
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Retinal pigment epithelial atr... OMIM:143200
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Glomerul... ORPHA:2260
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Mye... ORPHA:48104
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... ORPHA:3027
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer... ORPHA:449395
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... ORPHA:300298
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis OMIM:614602
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Pulmonary hypo... ORPHA:139466
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract OMIM:613801
Meacham Syndrome
Congenital alveolar dysplasia, Partial anomalous pulmonary venous return, Horseshoe kidney, Cardi... OMIM:608978
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Matthew-Wood Syndrome
Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Pulmonary hypoplasia, Vesicouretera... ORPHA:2470
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity ORPHA:90654
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Respiratory tract infecti... ORPHA:2686
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... ORPHA:90041
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Thymoma
Myositis, Glomerulonephritis, Neoplasm of head and neck, Ulcerative colitis, Neoplasm of the lung... ORPHA:99867
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... ORPHA:37042
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Pulmonary hypoplasia, Renal dysplasia OMIM:236500
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:180104
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Retinitis Pigmentosa 4
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy OMIM:613731
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in... ORPHA:505248
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Recurrent respiratory infections, Skin rash, Abdominal pain, Perianal abscess,... OMIM:301074
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Retinitis Pigmentosa 84
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma OMIM:618220
H Syndrome
Abnormality of the kidney, Recurrent pharyngitis, Bronchiectasis, Hepatosplenomegaly, Chronic rhi... ORPHA:168569
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Mala... ORPHA:793
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothora... ORPHA:731
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Cardiomegaly OMIM:614096
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Lung abscess, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Blo... ORPHA:67
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Posterior embryotoxon, Iris coloboma ORPHA:1473
Hereditary Orotic Aciduria
Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Abnormality of the uret... ORPHA:30
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Neonatal respiratory distress, Stage 5 chronic kidney disease, Nephr... OMIM:194080
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R... OMIM:620321
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,... OMIM:105650
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, ... OMIM:619802
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cardiomegaly, Pleural effusion, Enlarged kidney, Pulmonary edema OMIM:261740
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic rhinitis, Abno... ORPHA:922
Vesicoureteral Reflux 3
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... OMIM:613674
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Asthma, Abnormal lung lobation, Pul... ORPHA:79328
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Shigellosis
Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Uveitis, U... ORPHA:810
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia, Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Abdominal pai... ORPHA:2357
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Arthritis, Inflammation o... ORPHA:324964
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf... ORPHA:98813
Urofacial Syndrome 1
Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ... OMIM:236730
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Abruzzo-Erickson Syndrome
Coloboma, Cleft palate OMIM:302905
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... OMIM:232200
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia ... ORPHA:290
Microphthalmia, Isolated 4
Coloboma, Absent testis OMIM:613094
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Facial Clefting, Oblique, 1
Coloboma, Cleft palate OMIM:600251
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy OMIM:613835
Acute Interstitial Pneumonia
Reduced hematocrit ORPHA:79126
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Bronchitis, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, B-... OMIM:619381
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha... ORPHA:3348
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical ... OMIM:231680
Pallister-Hall-Like Syndrome
Micropenis, Pulmonary hypoplasia, Renal dysplasia OMIM:241800
Cataract 47
Microcornea, Cataract OMIM:612018
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... OMIM:232220
Hermansky-Pudlak Syndrome 1
Abdominal pain, Hematochezia, Inflammation of the large intestine, Colitis, Pulmonary fibrosis OMIM:203300
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypoplasia of the bladder, Renal agenesis, Hypospadias, Pulmonary artery stenosis, Bilateral lung... OMIM:611812
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Hematologic... ORPHA:3243
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Dextrocardia
Abnormal renal morphology, Abnormal lung lobation, Abnormality of the ureter, Abnormal pulmonary ... ORPHA:1666
Microphthalmia, Syndromic 12
Pulmonary hypoplasia OMIM:615524
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Polycystic kidney d... OMIM:184260
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Neonatal respiratory distress, Hypospadias, Respiratory infections in early ... ORPHA:96179
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia OMIM:301220
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the ureter, Neoplasm of the lung, Renal cell carcinom... ORPHA:2869
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Inflammation of the large intestine, Esophageal stricture, Pancolitis OMIM:620133
Trisomy 13
Abnormal lung lobation, Abnormality of the ureter, Multiple renal cysts, Displacement of the uret... ORPHA:3378
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia OMIM:618999
Reactive Arthritis
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Abdominal pain, Pustule, Diarrhea, Enthe... ORPHA:29207
Penoscrotal Transposition
Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Enlarged kidney, Unilateral renal agenesis OMIM:618188
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respiratory tract inf... ORPHA:60032
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Tracheomalacia, Partial anomalous pulmonary venous return, Pulmonary hyp... OMIM:618280
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Hepatomegaly, Bilateral trilobed lung, Renal agenesis, Cardiomegaly, Horses... OMIM:306955
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Polycystic kidney dysplasia OMIM:263210
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Recurrent bronchitis, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Mucopolysacc... OMIM:252500
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency OMIM:255320
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... OMIM:276700
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Pulmonary hypoplasia... ORPHA:2437
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Maculopapular exanthema, Colitis, Decreased liver function, Erythroderma, Infectious e... ORPHA:540
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, B-cell lymphoma, Hepatitis, Hodgki... ORPHA:3261
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Ogden Syndrome
Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Apnea, Cardiomegaly, Pulmonary a... OMIM:300855
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Intestinal perforation, Peritonitis, Rectal prolapse, Colonic stenosis, Diarrhea,... ORPHA:90038
Tonne-Kalscheuer Syndrome
Micropenis, Hypospadias, Pulmonary hypoplasia OMIM:300978
Meckel Syndrome, Type 6
Bilobed right lung, Renal cyst, Horseshoe kidney, Aplasia of the bladder, Pulmonary hypoplasia OMIM:612284
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Congenital Tracheal Stenosis
Respiratory distress, Abnormality of the kidney, Neonatal asphyxia, Abnormal lung morphology, Dys... ORPHA:141127
Achondrogenesis Type 2
Pulmonary hypoplasia, Cardiorespiratory arrest ORPHA:93296
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula... OMIM:619708
Microphthalmia, Syndromic 9
Renal malrotation, Agenesis of pulmonary vessels, Renal hypoplasia, Horseshoe kidney, Alveolar ca... OMIM:601186
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Severe Congenital Nemaline Myopathy
Micropenis, Hypospadias, Pulmonary hypoplasia, Respiratory failure ORPHA:171430
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Thanatophoric Dysplasia
Pulmonary hypoplasia, Abnormality of the kidney, Respiratory insufficiency ORPHA:2655
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... OMIM:180860
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Villous atrophy, Oropharyngeal squamous cell carcinoma, Ecz... ORPHA:391487
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte... ORPHA:95430
Congenital Myopathy 17
Respiratory tract infection, Renal hypoplasia, Respiratory insufficiency, Pulmonary hypoplasia, U... OMIM:618975
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Neoplasm of the urethra, Squamous cel... ORPHA:2908
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Wolfram Syndrome 1
Sideroblastic anemia, Cataract, Megaloblastic anemia, Optic atrophy, Pigmentary retinopathy, Thro... OMIM:222300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Epistaxis, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalc... ORPHA:79259
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Nausea, Abdominal pain, Respiratory tract infection, Myocarditis, Intestinal perforati... ORPHA:544482
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Eczema, Cholangitis, Malabsorption, Myelodysplasia, Feeding... ORPHA:3260
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Cardiomegaly, Pleural effusion, Pulmonary hypoplasia, Micropenis, Hydronephrosis OMIM:616897
Autosomal Recessive Spondylocostal Dysostosis
Respiratory insufficiency, Abnormality of the ureter, Hypospadias, Anomalous pulmonary venous return ORPHA:2311
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Cardiomegaly, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia OMIM:620306
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma OMIM:212550
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Anuria, Megacystis, Pyelonephritis, Elevated ... OMIM:619351
Atelosteogenesis, Type Ii
Pulmonary hypoplasia, Respiratory insufficiency OMIM:256050
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Pulmonary hypoplasia, Polycystic kidney dysplasia OMIM:614091
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Dysphagia ORPHA:254361
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux OMIM:201475
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... OMIM:155310
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Pulmonary hypoplasia... ORPHA:314588
Proximal Myotonic Myopathy
Cataract ORPHA:606
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Anterior chamber f... ORPHA:91500
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... OMIM:617718
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Enlarged kidney, Enuresis n... OMIM:615873
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... ORPHA:116
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Sinusitis, Recurrent intrapulmonary hemorrhage, Eczema, Keratit... ORPHA:906
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Chronic diarrhea, Esophageal varix OMIM:614576
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Bladder Exstrophy
Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, V... ORPHA:93930
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Atelectasis, Hypersensitivity pneumonitis, Atopic derm... ORPHA:2902
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... ORPHA:309031
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Recurrent respiratory infections, Hypospadias, Pulmonary hypoplasia OMIM:618316
Cocaine Intoxication
Glomerulonephritis, Diffuse alveolar hemorrhage, Intestinal perforation, Abdominal pain, Pneumoth... ORPHA:90068
Mckusick-Kaufman Syndrome
Hydroureter, Pulmonary hypoplasia, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephr... OMIM:236700
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration ORPHA:70589
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Abnormality of the ureter ORPHA:3409
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Astigmatism OMIM:619769
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration ORPHA:2847
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... ORPHA:289
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Myeloid leukemia, Hepatic failure ORPHA:331
Marden-Walker Syndrome
Micropenis, Pulmonary hypoplasia, Hypospadias, Renal hypoplasia OMIM:248700
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... OMIM:616468
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Atelectasis, Lymphoma, Cleft ... ORPHA:2314
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Genitopatellar Syndrome
Multicystic kidney dysplasia, Apnea, Pulmonary hypoplasia, Hydronephrosis ORPHA:85201
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, P... OMIM:618213
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Anemia ORPHA:160
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Alagille Syndrome
Hepatomegaly, Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndrome, Peripheral... ORPHA:52
Joubert Syndrome 21
Apnea, Splenomegaly, Dyspnea, Renal cyst, Respiratory failure, Pulmonary hypoplasia, Hyperechogen... OMIM:615636
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Chronic otiti... OMIM:244400