Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Iris coloboma |
OMIM:120433 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Kahrizi Syndrome |
|
Cataract, Elbow contracture, Knee flexion contracture, Thick vermilion border, Iris coloboma |
OMIM:612713 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Loose Anagen Syndrome |
|
Abnormal hair morphology, Abnormal hair whorl, Iris coloboma |
ORPHA:168 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Bilateral cleft lip and palate, Chorioretinal coloboma, Posterior embr... |
ORPHA:1473 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Microcornea, White forelock, Iris coloboma, Chorioretinal coloboma |
OMIM:601706 |
2Q24 Microdeletion Syndrome |
|
Cataract, Camptodactyly of finger, Abnormality iris morphology, Cleft palate, Coloboma, Abnormal ... |
ORPHA:1617 |
Terminal Osseous Dysplasia |
|
Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone... |
OMIM:300244 |
Abruzzo-Erickson Syndrome |
|
Cleft palate, Microcornea, Coloboma, Radioulnar synostosis, Chorioretinal coloboma, Iris coloboma... |
ORPHA:921 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Cataract, Intestinal malrotation, Highly arched eyebrow, Abnormality o... |
ORPHA:2712 |
Otodental Syndrome |
|
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car... |
ORPHA:2791 |
Mulibrey Nanism |
|
Dental crowding, Corneal dystrophy, Thickened cortex of long bones, Congestive heart failure, Den... |
OMIM:253250 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Ocular anterior segment dysgenesis, Iris coloboma, Coloboma, Peters anomaly |
OMIM:610023 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Accessory oral frenulum, Flexion contracture, Osteolysis involving bones of the upper l... |
ORPHA:88630 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Iris coloboma, Chorioretinal coloboma, Widely-spaced incisors |
OMIM:300915 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Cataract, Macrodontia, Joint stiffness, High, narrow pal... |
ORPHA:3242 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Coloboma |
OMIM:251505 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Iris coloboma, Orofacial cleft, Chorioretinal coloboma |
OMIM:611638 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Iris coloboma, Chorioretinal coloboma, Cervical C5/C6 vertebrae ... |
OMIM:613702 |
Cat-Eye Syndrome (Type I) |
|
Iris coloboma, Anal atresia |
DECIPHER:42 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Microcornea, Patent ductus arteriosus, Iris coloboma |
OMIM:615147 |
Hypomelanosis Of Ito |
|
Alopecia, Cataract, Thick lower lip vermilion, Irregularly spaced teeth, Iris coloboma |
OMIM:300337 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Radioulnar synostosis, Cleft palate |
OMIM:302905 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Cataract, Reduced bone mineral density, Abnormal cornea morphology, Hypophosph... |
ORPHA:2611 |
Facial Clefting, Oblique, 1 |
|
Coloboma, Cleft palate, Cleft upper lip |
OMIM:600251 |
Temtamy Syndrome |
|
Thick lower lip vermilion, Joint hyperflexibility, Chorioretinal coloboma, Iris coloboma, Abnorma... |
ORPHA:1777 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Iris coloboma, Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Coloboma, Pulp calcification, T... |
OMIM:166750 |
Biemond Syndrome Ii |
|
Iris coloboma |
OMIM:210350 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Pallor, Supraventricula... |
ORPHA:90064 |
Triploidy |
|
Cataract, Intestinal malrotation, Polyhydramnios, Non-midline cleft lip, Meningocele, Cleft palat... |
ORPHA:3376 |
Pai Syndrome |
|
Encephalocele, Median cleft lip, Cleft palate, Bifid uvula, Abnormal oral frenulum morphology, Ir... |
ORPHA:1993 |
Unilateral Ocular Duplication |
|
Encephalocele, Abnormal eyebrow morphology, Median cleft lip, Polyhydramnios, Abnormal pupil morp... |
ORPHA:3374 |
Cat-Eye Syndrome |
|
Iris coloboma, Anal atresia, Chorioretinal coloboma |
ORPHA:195 |
Humero-Radial Synostosis |
|
Tarsal synostosis, Limitation of joint mobility, Meningocele, Chorioretinal coloboma, Elbow ankyl... |
ORPHA:3265 |
Branchio-Oculo-Facial Syndrome |
|
Cataract, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Microcornea, Tooth agenesis, Col... |
ORPHA:1297 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Orofacial cleft, Developmental cataract, Coloboma, Ocular anterior segme... |
ORPHA:324416 |
Temtamy Syndrome |
|
Aortic regurgitation, Dental crowding, Highly arched eyebrow, Lens luxation, Ectopia lentis, Hypo... |
OMIM:218340 |
Frontofacionasal Dysplasia |
|
Encephalocele, Cataract, Brushfield spots, Non-midline cleft lip, Cleft palate, Microcornea, Limb... |
ORPHA:1791 |
Trisomy 13 |
|
Median cleft lip, Cataract, Abnormality of the dentition, Abnormal eyelash morphology, High, narr... |
ORPHA:3378 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor, Abnormal bone structure |
ORPHA:46532 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Facial erythema, Conjunctivitis, Pallor, Dry skin |
OMIM:603165 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Cleft upper lip, Cleft palate, Tooth agenesis, Iris coloboma |
OMIM:147950 |
Distal Duplication 18Q |
|
Abnormal dental morphology, Camptodactyly of finger, Abnormal hair pattern, Carious teeth, High p... |
ORPHA:1716 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Abnormality of the dentition, Craniosynostosis, Deep philtrum, Camptodact... |
ORPHA:251038 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Highly arched eyebrow, Cleft upper lip, Patent ductus arteriosus, Orofa... |
OMIM:243310 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Iris coloboma |
ORPHA:1104 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Iris coloboma |
ORPHA:139450 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Microcorne... |
ORPHA:3214 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Kapur-Toriello Syndrome |
|
Cataract, Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Patent ductus arterio... |
OMIM:244300 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Cataract, Widow's peak, Anterior basal encephalocele, Widely-spaced maxillary c... |
OMIM:136760 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, High, narrow palate, High palate, Chorioretinal coloboma, Sparse hair, ... |
OMIM:234100 |
Joint Laxity, Short Stature, And Myopia |
|
Umbilical hernia, Joint hypermobility, Iris coloboma, Chorioretinal coloboma |
OMIM:617662 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Flexion contracture, High palate, Arthrogryposis multiplex congenita, Iris colob... |
OMIM:601110 |
Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma |
OMIM:120400 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Coloboma |
OMIM:613703 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Osteoporosis, Pallor, Albinism |
ORPHA:2786 |
Bresek Syndrome |
|
Alopecia, Aganglionic megacolon, Cleft palate, Neonatal death, Iris coloboma |
ORPHA:85284 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Palpebral edema, Iris coloboma, Ectopia lentis |
ORPHA:1259 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Joint laxity, Cataract, High palate, Iris coloboma |
OMIM:607906 |
Alg2-Cdg |
|
Cataract, Iris coloboma |
ORPHA:79326 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Microcornea, High palate, Chorioretinal coloboma, Iris coloboma |
ORPHA:139471 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Cleft palate, Palmoplantar cutis laxa, Spina bifida occulta, Iris coloboma |
OMIM:268850 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Laurence-Moon Syndrome |
|
Cataract, Iris coloboma |
ORPHA:2377 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Sparse scalp hair, Aganglionic megacolon, Sparse eyebrow, Cleft palate, Iris coloboma |
ORPHA:66629 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... |
ORPHA:231736 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Redundant neck skin, Patent ductus arteriosus, Downturned corners of mou... |
OMIM:618652 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorioretinal coloboma, ... |
OMIM:602499 |
Crouzon Syndrome |
|
Conjunctivitis, Iris coloboma, Narrow palate, Multiple suture craniosynostosis |
ORPHA:207 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma |
OMIM:618295 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Atrioventricular block, ... |
ORPHA:371428 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ... |
ORPHA:2334 |
Nizon-Isidor Syndrome |
|
Thin upper lip vermilion, Sparse eyebrow, High, narrow palate, Upper eyelid edema, Downturned cor... |
OMIM:618872 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Optic disc coloboma, Cleft palate, High palate, Iris coloboma |
ORPHA:52055 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Synophrys, Low anterior hairline, Downturned corners of mouth, Coarse hair, Periodont... |
ORPHA:955 |
Zika Virus Disease |
|
Edema, Chorioretinal atrophy, Arthritis, Conjunctivitis, Lens subluxation, Iris coloboma |
ORPHA:448237 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Abnormal hair morphology, Ocular anterior segment dysgenesis, Iris coloboma, Abnormality of the d... |
OMIM:601427 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:2921 |
Congenital Hydrocephalus |
|
Iris coloboma |
ORPHA:2185 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Cataract, Polyhydramnios, Orofacial cleft, Microcornea, Narrow mou... |
ORPHA:3301 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Uveitis,... |
OMIM:221900 |
Donnai-Barrow Syndrome |
|
Umbilical hernia, Iris coloboma, Intestinal malrotation, Widow's peak |
ORPHA:2143 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Macular coloboma, Sclerocornea, Microcornea, Long philtrum, Ocular anterior segment dysgenesis, I... |
OMIM:615145 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Sparse eyelashes, Sparse eyebrow, Bilateral cleft lip and palate, High ... |
OMIM:618874 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ... |
ORPHA:536516 |
Treacher-Collins Syndrome |
|
Low anterior hairline, Glossoptosis, High palate, Abnormality of bone mineral density, Iris colob... |
ORPHA:861 |
Kapur-Toriello Syndrome |
|
Intestinal malrotation, Patent ductus arteriosus, Orofacial cleft, Retinal coloboma, Iris coloboma |
ORPHA:2328 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Spina bifida, Microglossia, Cleft palate, Microcornea, Retinal coloboma,... |
ORPHA:2839 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Cataract, Abnormal dental morphology, Camptodactyly of finger, Abnorma... |
ORPHA:568 |
Frontorhiny |
|
Encephalocele, Cataract, Camptodactyly of finger, Widow's peak, Cleft palate, Basal encephalocele... |
ORPHA:391474 |
Curry-Jones Syndrome |
|
Intestinal malrotation, Craniosynostosis, Optic disc coloboma, Iris coloboma, Generalized hirsutism |
ORPHA:1553 |
Stromme Syndrome |
|
Cataract, Jejunal atresia, Intestinal malrotation, Sclerocornea, Cleft palate, Wide mouth, Microc... |
OMIM:243605 |
Gorlin Syndrome |
|
Carious teeth, Vertebral fusion, Cataract, Iris coloboma |
ORPHA:377 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Focal Dermal Hypoplasia |
|
Coarse metaphyseal trabecularization, Alopecia, Abnormal dental morphology, Abnormal dental ename... |
ORPHA:2092 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Hijazi-Reis Syndrome |
|
Astigmatism, Iris coloboma |
OMIM:301094 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Dental crowding, High, narrow palate, Meningocele, Low posterior hairl... |
ORPHA:2789 |
Microphthalmia, Isolated 4 |
|
Coloboma |
OMIM:613094 |
3C Syndrome |
|
Intestinal malrotation, High, narrow palate, Cleft palate, Orofacial cleft, Ectopic anus, Pulmoni... |
ORPHA:7 |
Walker-Warburg Syndrome |
|
Cataract, Corneal opacity, Chorioretinal dysplasia, Submucous cleft hard palate, Cleft palate, Mi... |
ORPHA:899 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Iris coloboma |
OMIM:212550 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Spina bifida occulta, Chorioretinal atrophy, Developmental cataract, Micr... |
OMIM:612109 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Verheij Syndrome |
|
Joint laxity, Thin upper lip vermilion, Vertebral fusion, Branchial cyst, Cleft palate, Coloboma,... |
OMIM:615583 |
Cohen Syndrome |
|
Chorioretinal dystrophy, Macrodontia, Aplasia/Hypoplasia of the tongue, Thick hair, Abnormality o... |
ORPHA:193 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Highly arched eyebrow, Orofacial cleft, Wide mouth, Coloboma, Long phil... |
OMIM:614583 |
White-Sutton Syndrome |
|
Joint laxity, Patent ductus arteriosus, Cleft palate, Downturned corners of mouth, Thin vermilion... |
OMIM:616364 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele, Coloboma |
OMIM:601357 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Thick eyebrow, Intestinal malrotation, Short nail, Patent ductus arteri... |
OMIM:102500 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ... |
OMIM:115470 |
Microform Holoprosencephaly |
|
Tented upper lip vermilion, Cleft palate, Orofacial cleft, Short philtrum, Solitary median maxill... |
ORPHA:280200 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Cleft palate, Orofacial cleft, Retin... |
ORPHA:220493 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Optic disc coloboma, High palate, Iris coloboma, Bifid uvula |
OMIM:300472 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma |
OMIM:274270 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Cleft palate, Orofacial cleft, Iris ... |
ORPHA:220497 |
15Q24 Microdeletion Syndrome |
|
Smooth philtrum, Joint laxity, Broad eyebrow, Abnormality of the dentition, Myelomeningocele, Thi... |
ORPHA:94065 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Cleft palate, Glossoptosis, Radioulnar synostosis, Wrist flexion contracture... |
ORPHA:436003 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Exaggerated cupid's bow, Joint hypermobility, Patent ductus arteriosus, Wide mouth, Coloboma, Ast... |
OMIM:618659 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Pallor, Oligohydramnios |
ORPHA:163596 |
Rere-Related Neurodevelopmental Syndrome |
|
Astigmatism, Chorioretinal coloboma, Peters anomaly, Iris coloboma, Broad eyebrow |
ORPHA:494344 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Spina bifida o... |
ORPHA:233 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Sparse eyelashes, Craniosynostosis, Sparse eyebrow, Narrow palate, Cleft palate, D... |
OMIM:605627 |
Distal Deletion 13Q |
|
Encephalocele, Anencephaly, Iris coloboma, Anal atresia |
ORPHA:1590 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Lymphedema, Generalized joint laxity, Flexion contractur... |
ORPHA:536471 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Cutis laxa, Coloboma, Dry skin, Hypertrichosis |
OMIM:612379 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Corneal dystrophy, Pulmonary embolism, Gingival overgrowth, Hyperost... |
ORPHA:3205 |
X-Linked Sideroblastic Anemia |
|
Pallor, Abnormality of iron homeostasis |
ORPHA:75563 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, Iris coloboma |
ORPHA:77298 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regi... |
ORPHA:94080 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Corneal opacity, Orofacial cleft, Wide mouth, Iris coloboma |
ORPHA:1647 |
Trisomy 18 |
|
Cataract, Camptodactyly of finger, Spina bifida, Esophageal atresia, Non-midline cleft lip, Anenc... |
ORPHA:3380 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Abnormal hair morphology, Deep philtrum, Optic disc coloboma, Synophrys,... |
ORPHA:251014 |
Beta-Thalassemia |
|
Skin ulcer, Reduced bone mineral density, Pallor, Abnormality of iron homeostasis, Hypertrophic c... |
ORPHA:848 |
Developmental And Epileptic Encephalopathy 93 |
|
Iris coloboma |
OMIM:618012 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Triple A Syndrome |
|
Iris coloboma |
ORPHA:869 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Highly arched eyebrow, Diastema, Patent ductus arteriosus, Synophrys, L... |
ORPHA:329224 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Cataract, Microcornea, Iris transillumination defect, Coloboma, O... |
OMIM:617306 |
Primary Lateral Sclerosis, Juvenile |
|
Difficulty in tongue movements, Pallor |
OMIM:606353 |
Acute Myelomonocytic Leukemia |
|
Abnormality of the gingiva, Pallor |
ORPHA:517 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Spina bifida occulta, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip p... |
OMIM:601707 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Coloboma, Cataract, Corneal opacity, Low anterior hairline |
OMIM:613153 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Transient ischemic attack, Palpebral edema, Highly arched eyebrow, Joint stiffness, Optic disc co... |
ORPHA:2995 |
1Q21.1 Microdeletion Syndrome |
|
Cataract, Patent ductus arteriosus, Joint hyperflexibility, High palate, Long philtrum, Ankyloglo... |
ORPHA:250989 |
American Trypanosomiasis |
|
Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyo... |
ORPHA:3386 |
Microphthalmia, Syndromic 5 |
|
Joint laxity, Cataract, Cleft palate, Microcornea, Coloboma |
OMIM:610125 |
Srd5A3-Cdg |
|
Cataract, Abnormal hair morphology, Coloboma, Oligodontia, Hypertrichosis |
ORPHA:324737 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
Scalp-Ear-Nipple Syndrome |
|
Cataract, Palpebral edema, Sparse axillary hair, Sparse pubic hair, Congestive heart failure, Dev... |
OMIM:181270 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Alopecia, Cataract, Supernumerary nipple, Conical tooth, Keratitis, Er... |
OMIM:308300 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cataract, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Toot... |
ORPHA:2250 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Microcornea, Widely-spaced maxillary central inci... |
OMIM:601349 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Congestive heart failure, Pallor, Cardiac arrest |
ORPHA:49827 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Peters anomaly, Junctional ectopic tachycardia, Cleft palate, Anteriorly ... |
OMIM:309801 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Cataract, Abnormality iris morphology, Macroglossia, Cardiomyopathy, Col... |
ORPHA:370959 |
Ritscher-Schinzel Syndrome 1 |
|
Cleft palate, Low posterior hairline, Coloboma, Pulmonic stenosis, Aortic valve stenosis, Anal at... |
OMIM:220210 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Joubert Syndrome |
|
Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Orofacial cleft, Iris coloboma |
ORPHA:475 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Highly arched eyebrow, Meningocele, Cleft palate, Intr... |
OMIM:614424 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Holoprosencephaly |
|
Encephalocele, Hyponatremia, Thick eyebrow, Median cleft lip, Cyclopia, Bilateral cleft lip, High... |
ORPHA:2162 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Abnormality of upper lip vermillion, Dental crowding, Abnormality of the dentition, N... |
ORPHA:251028 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... |
ORPHA:137675 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Chorioretinal coloboma, Iris coloboma |
ORPHA:2318 |
Donnai-Barrow Syndrome |
|
Cataract, Intestinal malrotation, Hypoplasia of the iris, Umbilical hernia, Iris coloboma |
OMIM:222448 |
White-Sutton Syndrome |
|
Joint laxity, Thin upper lip vermilion, Downturned corners of mouth, Astigmatism, High palate, Sh... |
ORPHA:468678 |
Coach Syndrome 2 |
|
Hypertension, Coloboma, Chorioretinal coloboma |
OMIM:619111 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Alopecia, Corneal opacity, Recurrent fractures, Coloboma... |
OMIM:163200 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Hirsutism, Anal atresia |
OMIM:619318 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Odontogenic keratocysts of the jaw, Cataract, Spina bifida, Cleft upper lip, Ha... |
OMIM:109400 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Wide mouth, Macroglossia, Coloboma, Everted lower lip vermilion, Open mouth |
OMIM:616789 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Downturned corne... |
OMIM:619539 |
Microphthalmia, Syndromic 2 |
|
Flexion contracture, Microcornea, Oligodontia, Fused teeth, Laterally curved eyebrow, Contracture... |
OMIM:300166 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
Biemond Syndrome Type 2 |
|
Coloboma |
ORPHA:141333 |
Irida Syndrome |
|
Decreased circulating copper concentration, Abnormal intestine morphology, Pallor |
ORPHA:209981 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
Beta-Thalassemia Intermedia |
|
Osteopenia, High-output congestive heart failure, Osteoporosis, Skin ulcer, Reduced bone mineral ... |
ORPHA:231222 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Mycophenolate Mofetil Embryopathy |
|
Tracheoesophageal fistula, Orofacial cleft, Hydrops fetalis, Chorioretinal coloboma, Tracheomalac... |
ORPHA:268249 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Frontofacionasal Dysplasia |
|
Cataract, Cleft upper lip, Orofacial cleft, Microcornea, Bifid uvula, Cranium bifidum occultum, A... |
OMIM:229400 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Carious teeth, Velopharyngeal insufficiency, Submuc... |
OMIM:223370 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Polyhydramnios, Pericardial effusion, Hematochezia, Coloboma, Anasarca, Protein-los... |
OMIM:618183 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Portal hypertension, Highly arched eyebrow, Optic disc coloboma, Orofaci... |
ORPHA:1454 |
8P11.2 Deletion Syndrome |
|
Microcornea, Patent ductus arteriosus, High palate, Iris coloboma |
ORPHA:251066 |
Pontocerebellar Hypoplasia, Type 11 |
|
Coloboma, Anal atresia |
OMIM:617695 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Pallor, Narrow mouth, Gl... |
ORPHA:54028 |
Evans Syndrome |
|
Pallor, Syncope, Epistaxis, Petechiae |
ORPHA:1959 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Cataract, Corneal opacity, Abnormal location of the eyebrow, Agenesi... |
ORPHA:141099 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Malabsorption, Periorbital edema, Congestive heart failur... |
ORPHA:33226 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Enlargement of the costochondral junction, Delayed epiphyseal ossification, ... |
OMIM:600081 |
Stevenson-Carey Syndrome |
|
Pierre-Robin sequence, Downturned corners of mouth, Coloboma, Narrow mouth, Joint contracture of ... |
OMIM:611961 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Lip pit, Supernumerary nipple, Hypodontia, Iris coloboma, Abnormal palat... |
ORPHA:1236 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, Coloboma, High palate, Short philtrum, Prominent palatine ridges, Bi... |
OMIM:200990 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Rickets, Pallor |
OMIM:611590 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Joint laxity, Distichiasis, High palate, Pallor |
OMIM:600462 |
Joubert Syndrome 16 |
|
Encephalocele, Coloboma |
OMIM:614465 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Cataract, Aganglionic megacolon, Radial club hand, Optic disc coloboma, Microco... |
ORPHA:959 |
Marcus-Gunn Syndrome |
|
Cleft lip, Coloboma, Cleft palate |
ORPHA:91412 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Synophrys, Cleft palate, Unilatera... |
OMIM:610828 |
Smith-Lemli-Opitz Syndrome |
|
Sclerocornea, Polyhydramnios, Advanced eruption of teeth, Iris coloboma, Abnormal dental morpholo... |
ORPHA:818 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Coloboma, Thin vermilion border, Gingival overgrowth, Long philtrum |
ORPHA:464288 |
Adnp Syndrome |
|
Joint laxity, Thin upper lip vermilion, Sparse scalp hair, Thick lower lip vermilion, Hirsutism, ... |
ORPHA:404448 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Increased nuchal translucency, Cleft palate, Furrowed tongue, Downt... |
ORPHA:453499 |
Joubert Syndrome 15 |
|
Coloboma, Exencephaly |
OMIM:614464 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Increased serum iron, Pallor, Gingival bleeding, Increased total iron binding capacity |
ORPHA:98870 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Rachit... |
ORPHA:157215 |
Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Prominent median palatal raphe, Coloboma, Torus palatinus, Solitary median maxil... |
OMIM:147250 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Cataract, Aganglionic megacolon, Fused cervical vertebrae, Retinal coloboma, Spina... |
OMIM:607323 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regi... |
ORPHA:29072 |
Joubert Syndrome 23 |
|
Coloboma |
OMIM:616490 |
Leishmaniasis |
|
Pallor, Abnormal oral mucosa morphology, Skin ulcer, Abnormal oral cavity morphology |
ORPHA:507 |
Wolf-Hirschhorn Syndrome |
|
Abnormality of the philtrum, Sclerocornea, Cleft upper lip, Highly arched eyebrow, Osteoporosis, ... |
ORPHA:280 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Absent nipple, Polyhydramnios, Carious tee... |
OMIM:620186 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Thin upper lip vermilion, Spina bifida, Generalized joint laxity, Coloboma,... |
ORPHA:508498 |
Rheumatic Fever |
|
Pericarditis, Epistaxis, Myocarditis, Erythema, Arthritis, Pallor, Arrhythmia |
ORPHA:3099 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Alopecia, Corneal opacity, Abnormal eyelash morphology, Bone cyst, Ost... |
ORPHA:2396 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Enlargement of the costochondral junction, Delayed epiphyseal ossification, ... |
OMIM:241530 |
Steinfeld Syndrome |
|
Iris coloboma, Retinal coloboma, Bifid uvula, Median cleft lip and palate |
OMIM:184705 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Pallor, Lymphedema |
ORPHA:3226 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Meckel Syndrome, Type 1 |
|
Thin upper lip vermilion, Natal tooth, Occipital encephalocele, Intestinal malrotation, Camptodac... |
OMIM:249000 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Synophrys, Coloboma, Short philtrum, High palate, Chorioretinal coloboma, Ju... |
OMIM:619475 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Coloboma, Conjunctival hyperemia, Widow's peak |
OMIM:167730 |
Jacobsen Syndrome |
|
Smooth philtrum, Cataract, Intestinal malrotation, Spina bifida, Pyloric stenosis, Abnormality of... |
ORPHA:2308 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Peters Plus Syndrome |
|
Intestinal fistula, Thin upper lip vermilion, Cataract, Exaggerated cupid's bow, Corneal opacity,... |
ORPHA:709 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Lymphedema, Raynaud phenomenon, Coloboma, Patchy alopecia, Hypophosphatemic rickets... |
ORPHA:2874 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Colo... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Colo... |
ORPHA:352665 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Supernumerary nipple, Deep philtrum, Everted lower lip vermilion, High ... |
OMIM:613884 |
Focal Dermal Hypoplasia |
|
Brittle hair, Anteriorly placed anus, Oligodontia, Chorioretinal coloboma, Sparse hair, Spina bif... |
OMIM:305600 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regi... |
ORPHA:276621 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Coloboma, Cataract, Flexion contracture |
OMIM:615249 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Cataract, Corneal opacity, Cleft upper lip, Meningoencephalocele, Cleft ... |
OMIM:236670 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Edema, Rectal polyposis, Adenomato... |
ORPHA:329971 |
Jacobsen Syndrome |
|
Abnormal eyelash morphology, Pyloric stenosis, Flexion contracture, Microcornea, Chorioretinal co... |
OMIM:147791 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long eyelashes, Long philtrum |
OMIM:615877 |
Joubert Syndrome 22 |
|
Coloboma |
OMIM:615665 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Limited elbow movement, Polyhydramnios, Anteriorly placed anus, Conical i... |
OMIM:261540 |
Dravet Syndrome |
|
Limited knee extension, Pallor |
ORPHA:33069 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Coloboma, C... |
ORPHA:2399 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Cataract, Aganglionic megacolon, Supernumerary nipple, Pyloric stenosi... |
OMIM:235730 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Elevated transferrin saturation, Pallor, Elevated hepatic iron concentration |
OMIM:615234 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90037 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Portal hypertension, Esophageal varix, Wide mouth, Hypert... |
OMIM:216360 |
Dominant Beta-Thalassemia |
|
Abnormality of the dentition, High-output congestive heart failure, Dilated cardiomyopathy, Osteo... |
ORPHA:231226 |
Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Polyhydramnios, Cleft lip, Pyloric stenosis, Tracheoes... |
ORPHA:1199 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Limb Body Wall Complex |
|
Encephalocele, Corneal opacity, Spina bifida, Cleft lip, Myelomeningocele, Anencephaly, Cleft pal... |
ORPHA:2369 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Rieger anomaly, Highly arched eyebrow, Cleft upper lip, Malrotation of small bo... |
OMIM:194190 |
Retinitis Pigmentosa 75 |
|
Pallor, Mixed astigmatism |
OMIM:617023 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Rachitic rosary |
OMIM:612089 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent fractures, Premature loss of primary teeth, Craniosynostosis... |
ORPHA:667 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Tachycardia, Pallor |
ORPHA:263455 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:615219 |
Kabuki Syndrome |
|
Abnormal dental morphology, Lip pit, Abnormality of the dentition, Highly arched eyebrow, Orofaci... |
ORPHA:2322 |
Charge Syndrome |
|
Delayed eruption of teeth, Highly arched eyebrow, Cleft upper lip, Abnormal soft palate morpholog... |
ORPHA:138 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Heart murmur, Diffuse alveolar hemorrhage |
ORPHA:99931 |
Myelofibrosis |
|
Myelofibrosis, Pallor, Purpura |
OMIM:254450 |
Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Astigmatism, Pallor |
OMIM:609053 |
Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Cardiac conduction abnormality, Dehydration, Downturned corners of mouth... |
ORPHA:2131 |
Proximal Renal Tubular Acidosis |
|
Cataract, Band keratopathy, Malabsorption, Enamel hypomineralization, Hypovolemia, Dehydration, R... |
ORPHA:47159 |
Primary Myelofibrosis |
|
Portal hypertension, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Sepsis In Premature Infants |
|
Tachycardia, Edema, Enterocolitis, Bradycardia, Pallor, Hypotension, Petechiae, Purpura |
ORPHA:90051 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Cataract, Cleft soft palate, Pyloric stenosis, Supernumerary tooth, Astigma... |
ORPHA:268261 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Enlargement of the costochondral junction, Delayed epiphyseal ossification, ... |
OMIM:264700 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Enlargement of the costochondral junction, Delayed epiphyseal oss... |
ORPHA:289157 |
Cree Mental Retardation Syndrome |
|
Coloboma, Cleft soft palate |
OMIM:606851 |
Beta-Thalassemia Major |
|
Abnormality of the dentition, High-output congestive heart failure, Dilated cardiomyopathy, Osteo... |
ORPHA:231214 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Cleft lip, Synophrys, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Coloboma,... |
OMIM:603457 |
Witteveen-Kolk Syndrome |
|
Joint laxity, Thin upper lip vermilion, Branchial fistula, Cataract, Medial flaring of the eyebro... |
OMIM:613406 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Polyhydramnios, Corneal erosion, Optic disc coloboma, Cleft palate, Cutis... |
OMIM:270420 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Acquired Idiopathic Sideroblastic Anemia |
|
Congestive heart failure, Pallor |
ORPHA:75564 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor |
OMIM:615631 |
Myopathy, Mitochondrial, And Ataxia |
|
Thick hair, High palate, Pallor |
OMIM:617675 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypertensive crisis, Edema, Intestinal perforation, Myocarditis, Hyperkalemia, Hype... |
ORPHA:544482 |
Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Pallor, Hypotension, Mydriasis |
ORPHA:95613 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Coloboma, Odontogenic keratocysts of the jaw, Chorioretinitis |
ORPHA:199276 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft upper lip, Lymphedema, Yell... |
OMIM:153400 |
Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Submucous cleft hard palate, Bilateral cleft l... |
OMIM:157170 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Polyhydramnios, Conjunctival icterus, High palate, Pallor, Ascites |
OMIM:606812 |
Beta-Ketothiolase Deficiency |
|
Edema, Dehydration, Hypertension, Pallor, Hypotension |
ORPHA:134 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Aganglionic megacolon, Hypercalcemia, Prominent corneal nerve fibers, Abnormal tong... |
ORPHA:653 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Peptic ulcer, Osteoporosis, Increased susceptibility to fractures, Syncope, Pallor, ... |
ORPHA:98849 |
Bohring-Opitz Syndrome |
|
Cleft lip, Synophrys, Limitation of joint mobility, Bilateral wrist flexion contracture, Cleft pa... |
ORPHA:97297 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Pallor |
ORPHA:90036 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... |
ORPHA:93160 |
Hereditary Folate Malabsorption |
|
Pallor, Glossitis, Cheilitis |
ORPHA:90045 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia, Pallor |
ORPHA:90033 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynau... |
ORPHA:3260 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Cyclopia, Median cleft lip, Iris coloboma, Orofacial cleft |
ORPHA:3186 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Polyhydramnios, High, narrow palate, Flexion contracture, Low anterior hairline,... |
OMIM:180849 |
Charge Syndrome |
|
Anal stenosis, Cataract, Polyhydramnios, Cleft upper lip, Esophageal atresia, Patent ductus arter... |
OMIM:214800 |
Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Glossitis, Angular cheilitis, Pallor |
ORPHA:35858 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Broad eyebrow, Cleft lip, Patent ductus arteriosus, Widow's peak, Furrowed tongue, Coloboma, High... |
OMIM:616975 |
Branchiooculofacial Syndrome |
|
Cataract, Supernumerary nipple, Abnormality of the dentition, Malrotation of colon, Cleft upper l... |
OMIM:113620 |
Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Cataract, Macrodontia, Brittle hair, Cleft palate, Coloboma, Camptodact... |
OMIM:309500 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bulging of the costochondral junct... |
OMIM:277440 |
Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Sparse axillary hair, Sparse pubic hair, Palpitations, Bra... |
ORPHA:91355 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Decreased transferrin saturation, Increased serum iron, Pallor, Elevated hepatic iron concentration |
ORPHA:300298 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia |
ORPHA:89937 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Dental crowding, Cleft hard palate, Abnormal pupil morphology, Flexion contracture, Microcornea, ... |
ORPHA:261552 |
Degcags Syndrome |
|
Osteopenia, Polyhydramnios, Synophrys, Low anterior hairline, Premature graying of hair, High pal... |
OMIM:619488 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Linear Nevus Sebaceus Syndrome |
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Alopecia, Iris coloboma |
ORPHA:2612 |
Refractory Anemia With Excess Blasts |
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Palpitations, Anemic pallor, Retinal hemorrhage, Pedal edema |
ORPHA:86839 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Edema, Dilated cardiomyopathy, Dehydration, Pallor, Hypotension |
ORPHA:20 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Beaded ribs, Generalized osteosclerosis, Enlargement of the costochondral junct... |
ORPHA:89936 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Microphthalmia, Syndromic 3 |
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Vertebral fusion, Cataract, Sclerocornea, Esophageal atresia, Patent ductus arteriosus, Coloboma |
OMIM:206900 |
Prolactinoma |
|
Osteopenia, Abnormal hair quantity, Osteoporosis, Pallor, Hypotension |
ORPHA:2965 |
Mowat-Wilson Syndrome |
|
Dental crowding, Cleft hard palate, Flexion contracture, Widely spaced teeth, Iris coloboma, Bifi... |
ORPHA:2152 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Malabsorption, Erythema, Hydrops fetalis, Dehydration, Pallor, Steatorrhea, Punc... |
OMIM:557000 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Abnormal hair quantity, Supraventricular arrhythmia, Pericardial effusion, Congestive... |
ORPHA:91347 |
Diamond-Blackfan Anemia |
|
Cleft soft palate, Nonimmune hydrops fetalis, Cleft lip, Developmental glaucoma, Low anterior hai... |
ORPHA:124 |
Diamond-Blackfan Anemia 1 |
|
Tricuspid stenosis, Cleft upper lip, Congestive heart failure, Primary congenital glaucoma, Cleft... |
OMIM:105650 |
Microphthalmia, Syndromic 1 |
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Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Rectal prolapse, Py... |
OMIM:309800 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Rickets |
OMIM:211600 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility |
ORPHA:1901 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Skin ulcer, Pallor, Gout |
ORPHA:822 |
Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, Iris coloboma, Bifid uvu... |
ORPHA:261537 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Nonimmune hydrops fetalis, Pallor |
OMIM:266200 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Coloboma, Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Natal tooth, Cataract, Dental crowding, Intestinal malrotation, Cardiac conduction ... |
ORPHA:353281 |
Dent Disease 1 |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Abnormal r... |
ORPHA:249 |
Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension, Pallor |
ORPHA:95512 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria, Cleft palate |
OMIM:257910 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Buphthalmos, Coloboma, Everted lower lip vermilion, Pallor, Opacification of the cornea... |
OMIM:253280 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Letterer-Siwe Disease |
|
Stomatitis, Pallor |
OMIM:246400 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia |
OMIM:307800 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Pallor |
ORPHA:348 |
Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension, Pallor |
ORPHA:95513 |
Non-Functioning Pituitary Adenoma |
|
Abnormal hair quantity, Pallor, Hypotension |
ORPHA:91349 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Polyhydramnios, Coloboma, High palate, Joint laxity, Highly arched eyebrow, Supe... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Polyhydramnios, Coloboma, High palate, Joint laxity, Highly arched eyebrow, Supe... |
ORPHA:353277 |
Monosomy 13Q14 |
|
Cataract, Iris coloboma |
ORPHA:1587 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Macular edema, Abnormal left ventricular function, Cardiomyop... |
ORPHA:892 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Ankle flexion contracture, Cleft upper lip, Craniosynostosis, Polyhydr... |
OMIM:268300 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Thauvin-Robinet-Faivre Syndrome |
|
Pedal edema, Macroglossia, Coloboma, Retinal coloboma, Thick vermilion border |
OMIM:617107 |
Townes-Brocks Syndrome |
|
Rectoperineal fistula, Cataract, Patent ductus arteriosus, Anteriorly placed anus, Wide mouth, Re... |
ORPHA:857 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Conjunctival icterus, Pallor |
OMIM:194380 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor, Decreased serum iron |
OMIM:616959 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Osteopenia, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, P... |
OMIM:619534 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets |
OMIM:607765 |
Microphthalmia, Syndromic 6 |
|
Sclerocornea, Cleft palate, Microcornea, Coloboma, High palate, Lambdoidal craniosynostosis, Micr... |
OMIM:607932 |
Cystinosis |
|
Rickets |
ORPHA:213 |
Dent Disease |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... |
ORPHA:2671 |
Mccune-Albright Syndrome |
|
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... |
ORPHA:562 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets |
ORPHA:79303 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Rickets |
ORPHA:2088 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Patent ductus arteriosus, Anemic pallor, Tracheoesophageal fistula |
OMIM:227646 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Rickets |
OMIM:212750 |
Fanconi Anemia, Complementation Group C |
|
Flexion contracture, Anemic pallor |
OMIM:227645 |
Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia |
OMIM:227810 |
Distal Renal Tubular Acidosis |
|
Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density |
ORPHA:18 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor |
OMIM:227650 |
Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Synostosis o... |
ORPHA:198 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
Wilson Disease |
|
Osteoarthritis, Osteoporosis, Osteomalacia, Joint hypermobility |
OMIM:277900 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex |
OMIM:613658 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent fractures, Osteomalacia, Joint stiffness, Abnormal rib morphology, Joint hyperflexibili... |
ORPHA:534 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Patent ductus arteriosus, Low-ou... |
ORPHA:99125 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets |
ORPHA:2636 |
Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Rickets, Rachitic rosary |
OMIM:219800 |
Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Rickets, Pathologic fracture, Joint contracture of the han... |
OMIM:309000 |
Goodpasture Syndrome |
|
Pallor, Pulmonary hemorrhage |
OMIM:233450 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
Immunodeficiency 82 With Systemic Inflammation |
|
Arthritis, Osteomyelitis, Osteomalacia |
OMIM:619381 |
Generalized Arterial Calcification Of Infancy |
|
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Fused cervica... |
ORPHA:51608 |