Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigm... |
OMIM:619165 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Recurrent upper respiratory tract infections, Abnormal corneal endotheli... |
ORPHA:69736 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Premature graying ... |
OMIM:616371 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation |
ORPHA:79476 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Cataract |
OMIM:300719 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Methionine Malabsorption Syndrome |
|
Tachypnea, White hair, Blue irides |
OMIM:250900 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... |
ORPHA:241 |
Progressive Hemifacial Atrophy |
|
Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation, Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Sparse hair |
OMIM:275400 |
Neuroectodermal Melanolysosomal Disease |
|
Recurrent respiratory infections, Hypopigmentation of hair, Generalized hyperpigmentation, Premat... |
ORPHA:33445 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Hermansky-Pudlak Syndrome 4 |
|
Epistaxis, Albinism, Ocular albinism, Restrictive ventilatory defect, Pulmonary fibrosis |
OMIM:614073 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
Phenylketonuria |
|
Generalized hypopigmentation, Fair hair, Blue irides, Cataract |
OMIM:261600 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Choroideremia, Iris hypopigmentation |
ORPHA:99000 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation |
ORPHA:370097 |
Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Recurrent respiratory infections, Iris hypopigmentation |
ORPHA:834 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Waardenburg Syndrome, Type 3 |
|
Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ... |
OMIM:148820 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Megalocornea |
|
Iridodonesis, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris transillumination d... |
OMIM:309300 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... |
OMIM:601706 |
Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Epistaxis, Ocular albinism, Recurrent respiratory infections |
ORPHA:352723 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... |
OMIM:203300 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal fingernail morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
Tonne-Kalscheuer Syndrome |
|
Concave nail, Blue irides, Fine hair, Pulmonary hypoplasia, Small nail |
OMIM:300978 |
Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys, Respiratory insufficiency, Low posterior hairline, Generalized hirsu... |
ORPHA:1895 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair |
OMIM:619172 |
Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Partial albinism, Epistaxis, Dyspnea, Ocular albinism, Melano... |
ORPHA:79430 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Hypopigmentation of the skin |
OMIM:610798 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Ocular albinism, Giant melanosomes in melanocytes, Astigmatism, Freckl... |
ORPHA:54 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Iris hypopigmentation |
ORPHA:67048 |
Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Ectopia lentis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Rec... |
OMIM:604571 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation |
ORPHA:231169 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Recurrent respiratory infections, Frontal balding, Early balding, Blue irides, Cafe-au-lait spot |
ORPHA:3041 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, White hair, Thick eyebrow |
ORPHA:896 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... |
ORPHA:79397 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of skin pigmentation, Nail dysplasia, Ciliary dysk... |
OMIM:225050 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Pulmonary arterial hypertension, Hypopigmented skin patches, Pu... |
ORPHA:220402 |
Netherton Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal h... |
ORPHA:634 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... |
ORPHA:2302 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme... |
ORPHA:381 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Uveitis, Hypox... |
OMIM:612387 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Riboflavin Transporter Deficiency |
|
Respiratory insufficiency, Iris hypopigmentation |
ORPHA:97229 |
Hermansky-Pudlak Syndrome 8 |
|
Epistaxis, Albinism, Silver-gray hair, Myopic astigmatism, Ocular albinism, Blue irides, Iris tra... |
OMIM:614077 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Alopecia, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Premature graying of hair, Nail dystrophy, Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Synophrys, Heterochromia iridis |
ORPHA:1390 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Corneal opacity, Pneumonia, Congenital abnormal hair pattern, Spotty hypopigm... |
ORPHA:1867 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Proteus-Like Syndrome |
|
Cataract, Abnormal pupil morphology, Limbal dermoid, Bronchogenic cyst, Irregular hyperpigmentati... |
ORPHA:2969 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow |
ORPHA:2222 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Hermansky-Pudlak Syndrome 6 |
|
Epistaxis, Albinism, Recurrent upper respiratory tract infections, Ocular albinism, Hypopigmentat... |
OMIM:614075 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Hermansky-Pudlak Syndrome 5 |
|
Iris transillumination defect, Ocular albinism, Epistaxis, Albinism |
OMIM:614074 |
Hermansky-Pudlak Syndrome 10 |
|
Recurrent respiratory infections, Apnea, Albinism, Ocular albinism, Abnormal pulmonary interstiti... |
OMIM:617050 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides |
OMIM:615516 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... |
OMIM:193500 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation |
ORPHA:2720 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Low posterior hairline, Ir... |
ORPHA:85194 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... |
ORPHA:79126 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Reticular hyperpigmentation, Premature graying of hair, Restrictive ventilatory defect, Nail dyst... |
OMIM:619767 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... |
ORPHA:70588 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microcornea, Generalized hypopigmentation, Cataract, Iris transillumination defect |
OMIM:617306 |
Noonan Syndrome 13 |
|
Highly arched eyebrow, Blue irides, Low posterior hairline, Multiple lentigines, Cafe-au-lait spo... |
OMIM:619087 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... |
ORPHA:2902 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Absent inner eyelashes, Iris coloboma, A... |
ORPHA:1791 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Gi... |
OMIM:214500 |
Acrofrontofacionasal Dysostosis |
|
Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1784 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b... |
ORPHA:79402 |
Hypocomplementemic Urticarial Vasculitis |
|
Dyspnea, Emphysema, Uveitis, Restrictive ventilatory defect, Conjunctivitis, Irregular hyperpigme... |
ORPHA:36412 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Recurrent respiratory infections, Hypopigmentation of hair, Multiple c... |
ORPHA:100 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sc... |
ORPHA:1806 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Prader-Willi Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Hypoventilation, Frontal upsweep of h... |
OMIM:176270 |
Angelman Syndrome |
|
Fair hair, Hypopigmentation of the skin, Blue irides |
OMIM:105830 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Corneal opacity, Abnormal pleura morphology, Abnormal pupil mor... |
ORPHA:1764 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Recurrent sinopulmonary infections, Asthma, Allergic rhinitis, Vitiligo |
OMIM:614468 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Hyperpigmentati... |
OMIM:609981 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Hypopigmentation of th... |
ORPHA:98754 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... |
ORPHA:2357 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Hypopigmentation of th... |
ORPHA:98793 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e... |
OMIM:129500 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Hypopigmentation of th... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central apnea, Recurrent respiratory infections, Hypopigmentation of hair, Hypopigmentation of th... |
ORPHA:177901 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Apnea, Brushfield spots, Pigmentary retinopathy, Opacification of the corneal stroma |
OMIM:214110 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Hypopigmentation of hair, Stellate iris, ... |
ORPHA:177907 |
Wyburn-Mason Syndrome |
|
Epistaxis, Iris hypopigmentation |
ORPHA:53719 |
Zellweger Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Respiratory insuf... |
ORPHA:912 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Recurrent respiratory infections, ... |
ORPHA:167 |
Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
Hypophosphatasia |
|
Emphysema, Respiratory insufficiency |
ORPHA:436 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Albinism, Recurrent pneumonia, Ocular albinism, Pulmonary fibrosi... |
OMIM:608233 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia... |
OMIM:244400 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Neonatal respiratory distress, Cataract, Brushfield spots, Pigmentary retinopathy, Pulmonary hypo... |
OMIM:214100 |
Usher Syndrome Type 2 |
|
Cataract, Iris hypopigmentation |
ORPHA:231178 |
Albinism, Ocular, Type I |
|
Giant melanosomes in melanocytes, Ocular albinism |
OMIM:300500 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal iris pigmentation |
OMIM:132900 |
Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Cataract, Chorioretinal dy... |
OMIM:251270 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Choroideremia, Iris hypopig... |
ORPHA:2719 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Hermansky-Pudlak Syndrome 7 |
|
Ocular albinism, Epistaxis, Albinism |
OMIM:614076 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Noonan Syndrome 4 |
|
Sparse eyebrow, Curly hair, High anterior hairline, Blue irides |
OMIM:610733 |
Deafness-Hypogonadism Syndrome |
|
Heterochromia iridis |
ORPHA:90646 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
Angelman Syndrome |
|
Keratoconus, Astigmatism, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:72 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Recurrent sinopulmonary infections, Vitiligo |
OMIM:619846 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair |
ORPHA:1810 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Ungual fibroma, Atelectasis, Dyspnea, Pneumothorax, Abnormality... |
ORPHA:538 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Cataract, Abnormal fingernail morphology, Hypoplastic to... |
ORPHA:2930 |
Darier Disease |
|
Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of... |
ORPHA:218 |
Juvenile Xanthogranuloma |
|
Multiple cafe-au-lait spots, Iritis, Uveitis, Asymmetry of iris pigmentation |
ORPHA:158000 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Spar... |
OMIM:129900 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormality of skin pigmentation, Pulmonary embolism |
ORPHA:745 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Abnormal pupil morphology, Hypopigmented ... |
ORPHA:233 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... |
OMIM:104100 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro... |
OMIM:620233 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Reticulated skin pigmentation, Fine hair, Premature graying of hair, Pulmonary fibrosis... |
OMIM:613990 |
Nail-Patella Syndrome |
|
Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glaucoma, Fingernail dyspla... |
ORPHA:2614 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Abnormal hair morphology, Atelectasis, Paronychia, Cough, Dystr... |
ORPHA:2314 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Emphysema, Abnormality ... |
ORPHA:363618 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Respiratory failure |
ORPHA:70472 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Hypopigmentation of the skin |
ORPHA:79254 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Corneal dystrophy, Pulmonary embolism, Abnormal choroid morphology, ... |
ORPHA:3205 |
Gaucher Disease, Type I |
|
Epistaxis, Dyspnea, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, ... |
OMIM:230800 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
Koolen-De Vries Syndrome |
|
Cataract, Fair hair, Abnormality of hair texture, Iris hypopigmentation |
OMIM:610443 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormality of skin pigmentation, Pulmonary embolism |
ORPHA:743 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Reticulated skin pigmentation, Premature graying of hair, White forelock, Pulmonary fibrosis, Nai... |
OMIM:613989 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Sparse eyelashes, Pterygium of nails, Reticular hyperpigmentation, Pulmonary f... |
OMIM:224230 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in... |
OMIM:619632 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis |
OMIM:300219 |
Hypoadrenocorticism, Familial |
|
Abnormality of skin pigmentation, Apnea |
OMIM:240200 |
Hatipoglu Immunodeficiency Syndrome |
|
Hyperpigmented/hypopigmented macules, Asthma, Premature graying of hair, Fair hair, Recurrent bro... |
OMIM:620331 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... |
OMIM:604292 |
Meier-Gorlin Syndrome 4 |
|
Emphysema, Breast hypoplasia |
OMIM:613804 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair |
OMIM:229200 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoco... |
ORPHA:238468 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Blue irides, Melanocytic nevus |
OMIM:101800 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock, Heterochromia iridis |
OMIM:609136 |
Terminal Osseous Dysplasia |
|
Abnormality of skin pigmentation, Iris coloboma |
OMIM:300244 |
Oculocutaneous Albinism Type 5 |
|
Ocular albinism |
ORPHA:370091 |
Trisomy 8P |
|
Recurrent upper respiratory tract infections, Abnormal lung lobation, Low posterior hairline, Ast... |
ORPHA:264450 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corne... |
ORPHA:636 |
Nail-Patella Syndrome |
|
Keratoconus, Ridged nail, Cataract, Concave nail, Antecubital pterygium, Microcornea, Microphakia... |
OMIM:161200 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of skin pigmentation, Abnormality of the subungual region, Anonychia, Nail dystrophy |
ORPHA:79411 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Brushfield spots, Pigmentary retinopathy, Hypoplastic nipples, Opacification of the cor... |
OMIM:614866 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Highly arched eyebrow, Low posterior hairline, Microcornea, Heterochromia iridis, Iris coloboma |
ORPHA:2995 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Abnormality of skin pigmentation |
ORPHA:457260 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... |
ORPHA:626 |
Vici Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Cataract, Albinism, Ocular albinism, ... |
OMIM:242840 |
Neuroocular Syndrome |
|
Cataract, Brittle hair, Highly arched eyebrow, Brushfield spots, Synophrys, Lens coloboma, Blue i... |
OMIM:619539 |
Knobloch Syndrome 1 |
|
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... |
OMIM:267750 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Catara... |
ORPHA:744 |
Hennekam-Beemer Syndrome |
|
Generalized hyperpigmentation, Pneumonia, Respiratory insufficiency, Abnormality of skin pigmenta... |
ORPHA:2135 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Abnormality of skin pigmentation, Alopecia, Sparse hair, Nail dystrophy |
OMIM:616353 |
Farber Disease |
|
Respiratory distress, Corneal opacity, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent ... |
ORPHA:333 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph... |
ORPHA:1572 |
Down Syndrome |
|
Brushfield spots, Pulmonary artery stenosis, Partial anomalous pulmonary venous return |
OMIM:190685 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Cataract, Hypertrichosis |
OMIM:612379 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Emphysema, Coarse hair, Thick hair |
ORPHA:357074 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation |
OMIM:618156 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormality of skin pigmentation, Premature graying of hair, Abnormal hair morphology |
ORPHA:1979 |
Sarcoidosis, Susceptibility To, 1 |
|
Iridocyclitis, Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Uv... |
OMIM:181000 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypop... |
ORPHA:398079 |
Relapsing Polychondritis |
|
Alopecia, Cataract, Keratitis, Atelectasis, Dyspnea, Uveitis, Conjunctivitis, Cough, Abnormal pat... |
ORPHA:728 |
Loeys-Dietz Syndrome 4 |
|
Emphysema, Pneumothorax, Flat cornea |
OMIM:614816 |
Incontinentia Pigmenti |
|
Alopecia, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Abnormal fingernail morph... |
ORPHA:464 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Cataract, Supernumerary nipple, Keratitis, Uveitis, Nail pits, Abnormality... |
OMIM:308300 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... |
ORPHA:258 |
Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation |
ORPHA:53296 |
Sarcoidosis |
|
Alopecia, Cataract, Abnormal nasal mucosa morphology, Abnormal pleura morphology, Dyspnea, Abnorm... |
ORPHA:797 |
Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Abnormal fingernail morphology, Hypoplastic toenails, Abnormal hair morph... |
ORPHA:289 |
Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... |
ORPHA:90354 |
Cutis Laxa, Autosomal Dominant 1 |
|
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Trichorrhexis nodosa, Woolly hair, Uncombable hair, Gener... |
ORPHA:84064 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Keratitis, Nonproductive cough, Dyspnea, Emphy... |
ORPHA:31204 |
Focal Dermal Hypoplasia |
|
Alopecia, Corneal opacity, Ectopia lentis, Abnormality of skin pigmentation, Hypoplasia of the ir... |
ORPHA:2092 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Cataract, Corneal opacity, Sparse hair, Emphysema |
ORPHA:2962 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, White hair, Fine hair |
ORPHA:935 |
Hurler Syndrome |
|
Recurrent respiratory infections, Corneal opacity, Abnormality of skin pigmentation, Rhinitis, Ge... |
ORPHA:93473 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Neonatal respiratory distress, Ectopia lentis, Hypoxemia, Emphysema, Megalocornea |
ORPHA:284979 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation, Nail dystrophy |
OMIM:613988 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypop... |
ORPHA:398069 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
Chand Syndrome |
|
Atelectasis, Curly hair, Nail dysplasia |
ORPHA:1401 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Leukocoria, Uveitis, Hypopyon, Heterochromia iridis |
ORPHA:790 |
Craniolenticulosutural Dysplasia |
|
Brittle hair, Abnormality of skin pigmentation, Coarse hair, Posterior Y-sutural cataract, Sparse... |
ORPHA:50814 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism |
ORPHA:1352 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Cholestasis-Lymphedema Syndrome |
|
Abnormality of skin pigmentation |
ORPHA:1414 |
Chronic Graft Versus Host Disease |
|
Alopecia, Dyspnea, Wheezing, Pneumothorax, Bronchiectasis, Abnormality of skin pigmentation, Bron... |
ORPHA:99921 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity, Apnea, Abnormal lung lobation, Abnormality of skin pigmentation, Multi... |
ORPHA:1052 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... |
OMIM:618278 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Thick hair, Abnormal eyelash morpho... |
ORPHA:193 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis |
ORPHA:319213 |
Prader-Willi Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Cataract, Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Emphysema, Peripheral pul... |
ORPHA:90349 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Tracheomalacia, Emphysema, Peripheral pul... |
OMIM:613177 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Pleural effusion, Recurrent pneumonia, Cough |
OMIM:306400 |
Williams Syndrome |
|
Recurrent respiratory infections, Flat cornea, Cataract, Corneal opacity, Abnormal fingernail mor... |
ORPHA:904 |
Mandibuloacral Dysplasia |
|
Abnormality of skin pigmentation, Alopecia, Sparse hair, Hypoplastic fingernail |
ORPHA:2457 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Cataract, Abnormality of hair texture |
ORPHA:96169 |
Williams-Beuren Syndrome |
|
Medial flaring of the eyebrow, Blue irides, Premature graying of hair, Small nail, Peripheral pul... |
OMIM:194050 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Microcorne... |
ORPHA:536467 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Hypoplastic nipples, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:269860 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Sparse scalp hair, Cataract, Corneal opacity, Chorioretinal dys... |
ORPHA:534 |
Ehlers-Danlos Syndrome, Vascular Type |
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Pulmonary bulla, Keratoconus, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repe... |
OMIM:130050 |
Meier-Gorlin Syndrome 6 |
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Tracheobronchomalacia, Recurrent respiratory infections, Emphysema |
OMIM:616835 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... |
ORPHA:365 |
Fabry Disease |
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Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Dyspnea, Chronic pulmo... |
ORPHA:324 |
Degcags Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Pneumonia, Abnormal eyelash morphology, Sy... |
OMIM:619488 |
Sympathetic Ophthalmia |
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Alopecia, Cataract, Poliosis, Anterior chamber cells, Posterior synechiae of the anterior chamber... |
ORPHA:79098 |
Dyskeratosis Congenita, Digenic |
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Abnormality of skin pigmentation, Alopecia, Sparse eyelashes, Nail dystrophy |
OMIM:620040 |
3Q29 Microdeletion Syndrome |
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Abnormality of skin pigmentation, Pulmonary arterial hypertension, Cataract |
ORPHA:65286 |
Marfan Syndrome |
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Flat cornea, Spontaneous pneumothorax, Lens luxation, Ectopia lentis, Emphysema, Hypoplasia of th... |
ORPHA:558 |
Keutel Syndrome |
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Sinusitis, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sinusitis, Perip... |
OMIM:245150 |
Meier-Gorlin Syndrome 1 |
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Respiratory distress, Hyperconvex nail, Long eyelashes, Emphysema, Breast hypoplasia |
OMIM:224690 |
Zygomycosis |
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Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Chemosis, Acute infectious pneumonia, Cough, Ple... |
ORPHA:73263 |
Gaucher Disease |
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Corneal opacity, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Abnormali... |
ORPHA:355 |
22Q11.2 Deletion Syndrome |
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Cataract, Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Hypopigment... |
ORPHA:567 |
Marfan Syndrome |
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Cataract, Ectopia lentis, Emphysema, Pneumothorax, Microspherophakia, Hypoplasia of the iris, Ast... |
OMIM:154700 |
Smith-Lemli-Opitz Syndrome |
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Hypopigmentation of hair, Cataract, Sclerocornea, Abnormal eyelash morphology, Abnormal lung loba... |
ORPHA:818 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... |
OMIM:613658 |
Ablepharon Macrostomia Syndrome |
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Absent eyebrow, Corneal opacity, Abnormal hair pattern, Absent eyelashes, Corneal erosion, Fine h... |
ORPHA:920 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair |
ORPHA:1974 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Abnormality of retinal pigmentation, Corneal opacity, Chorioretinal dysplas... |
ORPHA:2556 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm |
OMIM:614437 |
Autosomal Dominant Cutis Laxa |
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Corneal opacity, Bronchiectasis, Developmental cataract, Bronchiolitis, Emphysema, Peripheral pul... |
ORPHA:90348 |
Cystinosis, Nephropathic |
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Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigmentary retinopathy, Recurrent ... |
OMIM:219800 |
Wrinkly Skin Syndrome |
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Sparse hair, Recurrent sinopulmonary infections, Emphysema |
ORPHA:2834 |
Alkaptonuria |
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Abnormality of skin pigmentation, Irregular hyperpigmentation, Abnormality of the nail |
ORPHA:56 |
Menkes Disease |
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Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
1P36 Deletion Syndrome |
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Abnormal eyebrow morphology, Cataract, Ocular albinism, Horizontal eyebrow, Generalized hirsutism |
ORPHA:1606 |
Digeorge Syndrome |
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Sclerocornea, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Recurrent ... |
OMIM:188400 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Curly hair, Unilateral lung agenesis, Sparse eyebrow, Respiratory failure, Emphysema, Broad later... |
ORPHA:500150 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Abnormal pupil m... |
ORPHA:286 |
Viss Syndrome |
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Sparse scalp hair, Alopecia, Dyspnea, Asthma, Pneumothorax, Pulmonary artery aneurysm, Pulmonary ... |
OMIM:619472 |