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Gene: Adam17 MGI:1096335

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Gene Summary

Name:
a disintegrin and metallopeptidase domain 17
Synonyms:
Tace,  CD156b

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 vibrissa morphology Adam17tm1a(EUCOMM)Wtsi HET Early adult 8.88×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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
Adrenal gland N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote Not available
Blood vessel 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 Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote 50% (1 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 0.0% (0 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 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 50% (1 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 vessel
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%
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%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
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%
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.

Histopathology

Images

14 Images

View images
Legacy Phenotype Associated Images
Adam17tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Adam17tm1a(EUCOMM)Wtsi
head, HET, Male, WTSI

View all 61 images

Adam17tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Adam17tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI
Adam17tm1a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

Human diseases caused by Adam17 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 Adam17 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Paronychia, Erythroderma, Blepharitis, Onychogryposis OMIM:614328
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023

The table below shows human diseases predicted to be associated to Adam17 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Myxoma, Intracardiac
Cardiac myxoma, Pulmonic valve myxoma, Bacterial endocarditis OMIM:255960
Ethanolaminosis
Death in infancy, Cardiomegaly OMIM:227150
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... OMIM:187950
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:619267
Brittle Cornea Syndrome 1
Keratoconus, Epicanthus, Mitral valve prolapse, Atypical scarring of skin, Keratoglobus, Abnormal... OMIM:229200
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Hypopigmentation of hair, Corneal opacity, Abnormal heart morphology, Aplasia... ORPHA:1067
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Epicanthus, Sparse eyelashes, Decreased response to growth hormone st... OMIM:615280
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Anterior synechiae of the anterior chamber,... OMIM:269400
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Alopecia, Cataract, Esophageal stricture, Flexion contracture... OMIM:226600
Noonan Syndrome 9
Curly hair, Ventricular septal defect, Prominent corneal nerve fibers, Sparse eyebrow, Cryptorchi... OMIM:616559
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Coloboma, Microphthalmia, Orbital cyst OMIM:251505
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Brittle Cornea Syndrome
Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal... ORPHA:90354
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A... ORPHA:70589
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Corneal opacity, Microcornea, Microphthalmia, Median cleft palate ORPHA:2432
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Elb... OMIM:148210
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Cho... ORPHA:1473
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Pru... OMIM:602400
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic der... OMIM:603165
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Nodular pattern on pulmonary HRCT, Cough ORPHA:60026
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Thrombocytopenia ORPHA:231393
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... OMIM:265120
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Distal Deletion 6P
Epicanthus, Corneal opacity, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anteri... ORPHA:96125
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Cataract, Upslanted palpebral fissure, Microcornea, High palate, Microphthalmia ORPHA:2528
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly, Epicanthus, Cataract, High palate, Downslanted palpebral fissures OMIM:614882
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Atelectasis, Pleural thickening,... ORPHA:2302
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Abnormal size of the palpebral fissures, High, narrow palate, Microcorn... ORPHA:3214
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... OMIM:273800
Uncombable Hair Syndrome 2
Uncombable hair, Juvenile cataract, Pili canaliculi OMIM:617251
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Mucolipidosis Type Iii
Inguinal hernia, Abnormal heart valve morphology, Acne, Corneal opacity, Cleft palate, Abnormal a... ORPHA:577
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma, Cough ORPHA:64741
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Idiopathic Achalasia
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level, Recurr... ORPHA:930
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Postural hypotension with compensatory tachycardia, Osteomyelitis, Keratitis, ... OMIM:256800
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Epicanthus, Cyanosis, Apnea, Neonatal respiratory distress, Ast... ORPHA:2257
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Elevated circulating C-reactive protein concentration, Bloody diarrhea OMIM:619398
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Persistent pupillary membrane, Woolly sca... ORPHA:79414
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Copper Deficiency, Familial Benign
Curly hair, Decreased circulating copper concentration, Seborrheic dermatitis, Early balding, Fai... OMIM:121270
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormal retinal morphology,... ORPHA:170
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:619003
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time OMIM:314560
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Cardiomyopathy, Rhi... ORPHA:93476
Leber Congenital Amaurosis 1
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, A... OMIM:204000
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Pruritus, Corneal erosion, Erythroderma, Abnormality of the nail, Ectropion ORPHA:79394
Gómez-López-Hernández Syndrome
Toenail dysplasia, Telecanthus, Alopecia of scalp, Corneal opacity ORPHA:1532
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Bronchiectasis, Corneal scarring, Colitis, Frontal upsweep of hair, Broad ey... OMIM:301220
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Chorioretinal coloboma OMIM:274205
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Winchester Syndrome
Corneal opacity, Hirsutism OMIM:277950
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Cataract, Macular scar, Band keratopathy, Vitreous haz... ORPHA:279914
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Viral hepatitis, Scarring, Hepatocellular carcinoma, Hypertr... ORPHA:101330
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia, Sclerocornea, Ankyloblepharon OMIM:611038
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Noonan Syndrome 4
Curly hair, Epicanthus, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Bilateral ptos... OMIM:610733
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... OMIM:615888
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Anophthalmia, Sclerocornea, Cryptorchidism, Microcornea, High palate... ORPHA:139471
Noonan Syndrome 10
Curly hair, Epicanthus, Ventricular septal defect, Prominent corneal nerve fibers, Sparse eyebrow... OMIM:616564
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Neurotrophic Keratopathy
Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion... ORPHA:137596
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood OMIM:614096
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Skin rash... ORPHA:290
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Leber Congenital Amaurosis 4
Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ... OMIM:604393
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Brittle Cornea Syndrome 2
Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Decrease... OMIM:614170
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Microphthalmia, Syndromic 13
Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis OMIM:300915
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Gastrointestinal dysmotility, Corneal ulceration, Recurrent skin infections, Corneal scarring OMIM:616488
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Leuk... OMIM:221900
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Brittle hair, Sparse eyelashes, Ventricular septal defect, Abnormality of hair textur... OMIM:234050
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Trichiasis, Highly arched eyebrow, Epiblepharon, Corneal scarring, Dysph... OMIM:618460
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Trichohepatoenteric Syndrome 2
Villous atrophy, Brittle hair, Small for gestational age, Decreased serum iron, Diarrhea, Chronic... OMIM:614602
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P... ORPHA:1302
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency ORPHA:1202
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
2Q24 Microdeletion Syndrome
Cataract, Camptodactyly of finger, Abnormality iris morphology, Cleft palate, Coloboma, Microphth... ORPHA:1617
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Low anterior hairline, Coloboma, Left ventricular ... OMIM:613153
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Cataract 35
Cataract OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 36
Cataract OMIM:613887
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Noonan Syndrome 8
Curly hair, Epicanthus, Ventricular septal defect, Eczema, Cryptorchidism, Mitral regurgitation, ... OMIM:615355
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Corneal opacity ORPHA:1980
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Trisomy 13
Cataract, Ventricular septal defect, Anophthalmia, Abnormal eyelash morphology, Cryptorchidism, A... ORPHA:3378
Costello Syndrome
Keratoconus, Deep-set nails, Epicanthus, Ventricular septal defect, Abnormal dental enamel morpho... ORPHA:3071
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Dermoids Of Cornea
Corneal opacity OMIM:304730
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... OMIM:152950
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia, Multiple pterygia OMIM:601809
Bleeding Disorder, Platelet-Type, 11
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,... OMIM:614201
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Trichoschisis, Cataract, Malabsorption, Flexion contracture... OMIM:601675
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Epicanthus, Keratoglobus, Astigmatism, Distal a... OMIM:108145
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Cleft palate, ... ORPHA:90654
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Congenital abnormal hair pattern, Pneumonia, Corneal opacity, Cryptorchidism,... ORPHA:1867
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Fine hair, Mitral valve prolapse, High palate, Sparse hair, Ptosis OMIM:615278
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration OMIM:607016
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Fl... ORPHA:35173
Chops Syndrome
Curly hair, Cataract, Ventricular septal defect, Thick hair, Cryptorchidism, Synophrys, Splenomeg... OMIM:616368
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Obesity ORPHA:88643
Anterior Segment Dysgenesis 6
Corneal opacity, Developmental glaucoma, Abnormal Descemet membrane morphology, Posterior synechi... OMIM:617315
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... ORPHA:79126
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Ventricular septal defect, Sclerocornea, Cryptorchidism, Esophageal atresia, Trache... ORPHA:77298
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... OMIM:608647
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Curly hair, Sparse scalp hair, Epicanthus, Atrial septal defect, Ventricula... OMIM:607721
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Nathalie Syndrome
Arrhythmia, Cataract ORPHA:2663
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology ORPHA:1208
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia OMIM:620326
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pleura morphology, Respiratory insufficiency, Restrictive ventilatory defect, Cough, Abn... ORPHA:724
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Inguinal hernia, Anophthalmia, Abnormal size of the palpebral fissures, Corneal dystrophy, Campto... ORPHA:1101
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
X-Linked Intellectual Disability, Stocco Dos Santos Type
Epicanthus, Cataract, Hirsutism ORPHA:85288
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Corneal opacity ORPHA:2370
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Developmental catar... OMIM:618815
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Erythrokeratodermia Variabilis
Alopecia, Cataract, Skin rash, Corneal opacity, Abnormal hair morphology, Abnormality of the nail... ORPHA:317
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Corneal scarring... OMIM:614653
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Cataract, Anophthalmia, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long e... OMIM:615877
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Hepatomegaly, Splenomegaly, Loss of eyelashes, Corneal scarring, Increa... OMIM:263700
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr... OMIM:187800
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Highly arched eyebrow, Cryptorchidism, Abnormal optic disc morphology, Bifid uvula, Decreased cor... ORPHA:293967
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Oculomaxillofacial Dysostosis
Corneal opacity, Camptodactyly of finger, Abnormal eyelid morphology, Abnormal eyelash morphology... ORPHA:1794
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia OMIM:615524
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... OMIM:616171
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Harel-Yoon Syndrome
Corneal opacity, Optic atrophy, Developmental cataract, Upslanted palpebral fissure, Hypertrophic... OMIM:617183
Noonan Syndrome 5
Curly hair, Epicanthus, Sparse eyebrow, Cryptorchidism, Fine hair, Pulmonic stenosis, Small nail,... OMIM:611553
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia, Ptosis OMIM:617468
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... ORPHA:849
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:120433
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency, Ptosis OMIM:255320
Microtriplication 11Q24.1
Keratoconus, Synophrys, Cleft palate, Upslanted palpebral fissure, Long eyelashes, Thick eyebrow ORPHA:289522
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Noonan Syndrome 6
Curly hair, Epicanthus, Long eyebrows, Cryptorchidism, Bilateral ptosis, Low posterior hairline, ... OMIM:613224
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma OMIM:148200
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... ORPHA:280921
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Chorioretinal dysplasia, Abnormal eyelid morphology, Abnormal optic nerve morpholog... ORPHA:2526
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Walker-Warburg Syndrome
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dystrophy, Anopht... ORPHA:899
Noonan Syndrome 7
Curly hair, Epicanthus, Low posterior hairline, Impaired oropharyngeal swallow response, Pulmonic... OMIM:613706
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Intestinal malrotation, Highly arched eyebrow, Ectopia lentis, Subm... ORPHA:2712
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Anophthalmia, C... OMIM:610125
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormal eyelash morpholo... ORPHA:573
Oculodentodigital Dysplasia
Curly hair, Epicanthus, Brittle hair, Slow-growing hair, Ventricular septal defect, Cataract, Abn... ORPHA:2710
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Trichohepatoneurodevelopmental Syndrome
Synophrys, Coarse hair, High palate, Gastroesophageal reflux, Thoracic hypertrichosis, Hepatomega... OMIM:618268
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis OMIM:614224
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... ORPHA:2399
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... OMIM:616414
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Epicanthus, Cataract, Pericallosal lipoma, Widow's peak, Joint contract... OMIM:136760
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Upslanted palpe... ORPHA:496790
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Bilateral ptosis, Recurre... ORPHA:254875
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Warburg Micro Syndrome 1
Cryptorchidism, Optic atrophy, Hypertrichosis, Developmental cataract, Microcornea, Facial hypert... OMIM:600118
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Ptosis, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Knee flexion contracture, Upslanted palpebral fissure, Astigmatism, Camptodactyly, Long... OMIM:619694
Anophthalmia Plus Syndrome
Anophthalmia, Cleft palate, Bilateral cleft lip and palate, Eyelid coloboma, Blepharophimosis, Ir... ORPHA:1104
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Bilateral cleft lip and palate, Poplitea... OMIM:619339
Morquio Syndrome C
Corneal opacity OMIM:252300
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough ORPHA:77260
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Respiratory distress OMIM:615993
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia... ORPHA:542306
Cat-Eye Syndrome
Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Anal atresia ORPHA:195
Dysequilibrium Syndrome
Cataract ORPHA:1766
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Retinal detachment, Aplasia/Hypoplasia of the lens, Ventricular sept... ORPHA:85194
Proboscis Lateralis
Anophthalmia, Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, Abnormali... ORPHA:141099
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis... OMIM:602562
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Abnormal EKG, ... ORPHA:93400
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Harlequin Ichthyosis
Cataract, Erythroderma, Sudden cardiac death, Ectropion ORPHA:457
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Increased circulating ferritin concentration, ... OMIM:300635
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf... ORPHA:36238
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Choroidal neovascularization, Abnormal chorioret... ORPHA:179
Weill-Marchesani Syndrome 3
Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, Aortic valve sten... OMIM:614819
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Naxos Disease
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture ORPHA:34217
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Hooded eyelid, Sparse eyelashes, Dysplastic tricuspid valve, Mitra... OMIM:612863
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Abnormal hair morphology ORPHA:345
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Retinal dystrophy, Flexion contracture, Developmental cataract, Abnormal left ventricular functio... OMIM:613155
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Glossoptosis, Cataract, Ventricular septal defect OMIM:614876
Microphthalmia, Syndromic 8
Cryptorchidism, Cleft palate, Microcornea, Blepharophimosis, Microphthalmia, Short palpebral fissure OMIM:601349
Braddock-Carey Syndrome 1
Curly hair, Telecanthus, Aortic valve prolapse, Ventricular septal defect, Cleft palate, Anterior... OMIM:619980
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Hepatomegaly, Cataract, Ventricular septal defect, Cryptorchidism, Microphthalmia OMIM:613730
Transketolase Deficiency
Hepatomegaly, Cataract, Ventricular septal defect, Seborrheic dermatitis, Uveitis, Abnormal heart... ORPHA:488618
Neurooculocardiogenitourinary Syndrome
Epicanthus, Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorch... OMIM:618652
Refsum Disease, Classic
Cataract, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy,... OMIM:266500
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity, Cleft palate OMIM:244600
Naxos Disease
Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr... OMIM:601214
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... ORPHA:411703
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia, Scarring, Cryptorchidism, Flexion contracture, Uveitis, Developmental... ORPHA:90322
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Inflammation of the large intestine, Nail dystrophy, Abdominal pain ORPHA:46487
Mucolipidosis Iv
Corneal opacity, Achlorhydria, Optic atrophy, Opacification of the corneal stroma, Retinal degene... OMIM:252650
Cataract 42
Cataract, Developmental cataract OMIM:115900
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Mucoid diarrhea, Increased circulating IgE level, Inflammation o... OMIM:615767
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Ventricular septal defect, Cryptorchidism, Optic atrophy, Dysphagia, Abnormal heart m... ORPHA:494344
Atelosteogenesis, Type Ii
Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency OMIM:256050
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... ORPHA:70588
Waardenburg Syndrome Type 3
Telecanthus, Tracheomalacia, Atelectasis, Blepharophimosis, Acrocyanosis, Downslanted palpebral f... ORPHA:896
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Cataract, Sparse e... OMIM:129500
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Sympathetic Ophthalmia
Papilledema, Alopecia, Cataract, Retinal detachment, Poliosis, Vitreous floaters, Vitritis, Retin... ORPHA:79098
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Microp... OMIM:615145
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Juvenile Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Protruding tongue, Cherry red spot of t... ORPHA:93399
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior chamber, Atrial sep... OMIM:602482
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Camptodactyly of finger, Microcornea, Long eyelashes, Microphthalmia ORPHA:48431
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... OMIM:620296
Leopard Syndrome 3
Curly hair, Low posterior hairline, Abnormal aortic valve morphology, Abnormal mitral valve morph... OMIM:613707
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Epicanthus, Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Upslanted ... ORPHA:401777
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Synoph... ORPHA:284169
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... ORPHA:1354
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Xfe Progeroid Syndrome
Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Hypertension, Enamel hypoplasia, At... OMIM:610965
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Alopecia, Ventricular septal defect, Sclerocornea, Cryptorchidism, Hypoplas... OMIM:613001
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Poor appetite, Abnormal large intestine morphol... ORPHA:2198
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Cataract, Low anterior hairline OMIM:608227
Frontofacionasal Dysplasia
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Cleft palate, M... ORPHA:1791
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Keratoconus, Inguinal hernia, Aortic regurgitation, Congenital diaphragm... OMIM:208050
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg... ORPHA:324416
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Hepatomegaly, Optic disc pallor, Limb joint contracture, Lagophthalmos, ... ORPHA:404454
Congenital Varicella Syndrome
Atypical scarring of skin, Microphthalmia, Cataract ORPHA:291
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Joint contrac... OMIM:615704
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... OMIM:234810
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Alopecia, Conjunctivitis, Erythroderma, Sparse hair, Fragile nails OMIM:242150
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Corneal Dystrophy, Reis-Bucklers Type
Palpebral edema, Corneal dystrophy, Corneal opacity, Corneal erosion, Opacification of the cornea... OMIM:608470
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Epicanthus, Dyspnea, Respiratory failure,... ORPHA:2759
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Maternally-Inherited Diabetes And Deafness
Cataract, Abnormal chorioretinal morphology, Malabsorption, Congestive heart failure, Hypertensio... ORPHA:225
Alagille Syndrome
Keratoconus, Hepatomegaly, Ventricular septal defect, Corneal dystrophy, Telangiectasia of the sk... ORPHA:52
Pierpont Syndrome
Telecanthus, Cryptorchidism, Abnormal subcutaneous fat tissue distribution, Microcornea, Narrow p... ORPHA:487825
8Q21.11 Microdeletion Syndrome
Epicanthus, Cataract, Iris hypopigmentation, Eczema, Sclerocornea, Corneal opacity, Camptodactyly... ORPHA:284160
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... OMIM:217800
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... ORPHA:1806
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Reduced systolic function, Dilated cardiomyopathy, Microphthalmia, Pancre... OMIM:618805
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Epicanthus, Cataract, Chorioretinal coloboma ORPHA:2489
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... ORPHA:454836
Agnathia-Otocephaly Complex
Respiratory distress, Downslanted palpebral fissures, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Leopard Syndrome 2
Curly hair, Epicanthus, Downslanted palpebral fissures, Hypertrophic cardiomyopathy OMIM:611554
Weill-Marchesani Syndrome
Cataract, Ventricular septal defect, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis, Aor... ORPHA:3449
Trichothiodystrophy
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures, High... ORPHA:33364
Mulibrey Nanism
Hepatomegaly, Corneal dystrophy, Cardiomegaly, Congestive heart failure, Microglossia, Myocardial... OMIM:253250
3Q29 Microduplication Syndrome
Cataract, Ventricular septal defect, Sclerocornea, Camptodactyly of toe, Cleft palate, Ectopic an... ORPHA:251038
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Optic atrophy, Microphtha... ORPHA:1466
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Osteoart... ORPHA:1345
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Coloboma, High palate, Gastroesophageal reflux, Otitis media, Atrial septa... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Coloboma, High palate, Gastroesophageal reflux, Otitis media, Atrial septa... ORPHA:353277
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Congenital diaph... ORPHA:2556
Sandestig-Stefanova Syndrome
Epicanthus, Laterally extended eyebrow, Highly arched eyebrow, Muscular ventricular septal defect... OMIM:618804
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ulcerative colit... OMIM:617638
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Rod-cone d... OMIM:204200
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacar... OMIM:604381
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Baraitser-Winter Syndrome 1
Epicanthus, Bicuspid aortic valve, Highly arched eyebrow, Cryptorchidism, Low posterior hairline,... OMIM:243310
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Vaginal hernia, Cataract, Hypertrophic cardiomyopathy, Downslanted palpebral f... ORPHA:3173
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Achondrogenesis Type 2
Pulmonary hypoplasia, Cardiorespiratory arrest ORPHA:93296
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pterygium, Pulmonary hypoplasia, Respiratory insufficiency OMIM:224410
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Idiopathic Pulmonary Hemosiderosis
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve... ORPHA:99931
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Bicuspid aortic valve, Short digit, Short 5th metacarpal ORPHA:228190
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Respiratory insufficiency OMIM:267430
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Bilateral ptosis, Cataract, Optic atrophy, Dysphagia ORPHA:329314
Noonan Syndrome 14