Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Choroidal Dystrophy, Central Areolar, 1 |
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Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
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Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Stargardt Disease 1 |
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Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Atrophia Maculosa Varioliformis Cutis, Familial |
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Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 6 |
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Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 7 |
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Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 11 |
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Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
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Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 15 |
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Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
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Macular degeneration |
OMIM:153800 |
Night Blindness, Congenital Stationary, Type 1D |
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Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinitis Pigmentosa 36 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Grouped Pigmentation Of The Retina |
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Abnormality of retinal pigmentation |
OMIM:233800 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Osebold-Remondini Syndrome |
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Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Exudative Vitreoretinopathy 3 |
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Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
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Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Feingold Syndrome 2 |
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Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,... |
OMIM:614326 |
Hypertension And Brachydactyly Syndrome |
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Short metacarpal, Short stature, Cone-shaped epiphysis, Short phalanx of finger, Type E brachydac... |
OMIM:112410 |
Thiemann Disease |
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Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Arthrogryposis, Distal, Type 11 |
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Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Epiphyseal Dysplasia, Multiple, 1 |
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Epiphyseal dysplasia, Short metacarpal, Severe short stature, Avascular necrosis of the capital f... |
OMIM:132400 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
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Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Acromesomelic Dysplasia 2A |
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Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Pseudoachondroplasia |
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Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho... |
ORPHA:750 |
Heyn-Sproul-Jackson Syndrome |
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Short metacarpal, Severe short stature, Intrauterine growth retardation, Broad phalanx, Short pha... |
OMIM:618724 |
Brachydactyly-Arterial Hypertension Syndrome |
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Short metacarpal, Short stature, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Coloboma Of Macula |
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Macular coloboma |
OMIM:120300 |
Smith-Mccort Dysplasia 2 |
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Short metacarpal, Enlarged interphalangeal joints, Short stature, Broad femoral neck, Broad metat... |
OMIM:615222 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Eiken Syndrome |
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Epiphyseal dysplasia, Abnormal acetabulum morphology, Short stature, Abnormal fingertip morpholog... |
ORPHA:79106 |
Brachydactyly-Syndactyly Syndrome |
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Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Split-Hand/Foot Malformation 2 |
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Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Otopalatodigital Syndrome, Type I |
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Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Acromicric Dysplasia |
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Short metacarpal, Severe short stature, Cone-shaped epiphysis, Short foot, Short long bone, Short... |
OMIM:102370 |
Arthrogryposis, Distal, Type 1A |
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Hip contracture, Congenital hip dislocation, Short stature, Single transverse palmar crease, Over... |
OMIM:108120 |
Pseudoachondroplasia |
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Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... |
OMIM:177170 |
Solitary Bone Cyst |
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Abnormal tibia morphology, Abnormal pubic bone morphology, Proximal femoral metaphyseal abnormali... |
ORPHA:83468 |
Odontochondrodysplasia 1 |
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Recurrent respiratory infections, Short metacarpal, Brachydactyly, Short stature, Micromelia, Met... |
OMIM:184260 |
Dyggve-Melchior-Clausen Disease |
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Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... |
OMIM:223800 |
Mucus Inspissation Of Respiratory Tract |
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Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Rhizomelia, Short stature, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of t... |
ORPHA:163966 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
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Epiphyseal dysplasia, Short stature, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Congenital Vertical Talus |
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Myelomeningocele, Rocker bottom foot, Equinus calcaneus |
ORPHA:178382 |
Vertical Talus, Congenital |
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Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
Orofaciodigital Syndrome Type 10 |
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Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
Acromesomelic Dysplasia 3 |
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Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Arthrogryposis, Distal, Type 2B1 |
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Short stature, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatar... |
OMIM:601680 |
Ruvalcaba Syndrome |
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Short metacarpal, Short stature, Micromelia, Limited elbow extension, Short metatarsal, Small han... |
OMIM:180870 |
Wt Limb-Blood Syndrome |
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Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Radioulnar synostosis, Joint contra... |
OMIM:194350 |
Acromesomelic Dysplasia 2B |
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Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
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Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... |
ORPHA:457395 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Peripheral Dysostosis |
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Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Short metacarpal, Brachydactyly, Short stature, Sandal gap, Postaxial polydactyly, Short metatars... |
OMIM:617102 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Coxa vara, Femo... |
OMIM:608940 |
Acromesomelic Dysplasia 4 |
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Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radial bowing, Rhizomeli... |
OMIM:619636 |
Chromosome 8Q22.1 Duplication Syndrome |
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Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Short stature, Interphalangeal ... |
OMIM:151200 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short metacarpal, Short stature, Avascular necrosis of the capital femoral epiphysis, Short metat... |
OMIM:190351 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short metacarpal, Short stature, Camptodactyly of finger, Tapered finger, Thenar muscle atrophy, ... |
OMIM:612350 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Disproportionate short stature, Sho... |
OMIM:602875 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Short stature, Decreased palmar creases, Abnormal fi... |
ORPHA:2980 |
Larsen-Like Syndrome |
|
Short stature, Wide anterior fontanel, Radial deviation of the 4th finger, Talipes equinovarus, C... |
OMIM:608545 |
Waardenburg Syndrome Type 3 |
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Camptodactyly of finger, Atelectasis, Abnormal finger morphology, Cutaneous finger syndactyly, Ab... |
ORPHA:896 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Severe short stature, Single transverse palmar crease, Mo... |
OMIM:615777 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
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Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
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Short palm, Short metacarpal, Single interphalangeal crease of fifth finger, Postnatal growth ret... |
OMIM:611717 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... |
OMIM:300863 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
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Emphysema, Arachnodactyly, Hip dislocation |
OMIM:614100 |
Bronchopulmonary Dysplasia |
|
Small for gestational age, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema |
ORPHA:70589 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,... |
OMIM:614613 |
Three M Syndrome 3 |
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Short stature, Growth delay, Slender long bone, Hip dysplasia, Clinodactyly of the 5th finger, Pr... |
OMIM:614205 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
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Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Three M Syndrome 2 |
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Scapular winging, Severe short stature, Short stature, Prominent calcaneus, Slender long bone, Sh... |
OMIM:612921 |
Atelosteogenesis Type Ii |
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Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... |
ORPHA:56304 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Cutis Laxa-Marfanoid Syndrome |
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Emphysema, Arachnodactyly, Hip dislocation |
ORPHA:171719 |
Idiopathic Bronchiectasis |
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Respiratory tract infection, Emphysema, Clubbing, Bronchiectasis, Acute infectious pneumonia, Rec... |
ORPHA:60033 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Congenital hip dislocation, Rocker bottom foot, Recurrent upper respiratory tract infections, Cal... |
ORPHA:3078 |
Pde4D Haploinsufficiency Syndrome |
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Short metacarpal, Broad hallux, Postnatal growth retardation, Short toe, Short metatarsal, Upper ... |
ORPHA:439822 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Short stature, Iliac crest serration, H... |
OMIM:607326 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val... |
OMIM:618150 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ... |
OMIM:210720 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly |
OMIM:614684 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
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Hip contracture, Metatarsus adductus, Calcaneovalgus deformity, Elbow flexion contracture, Talipe... |
OMIM:616266 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... |
OMIM:601356 |
Silver-Russell Syndrome |
|
Short stature, Sandal gap, Postnatal growth retardation, Upper limb asymmetry, Abnormal appendicu... |
ORPHA:813 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru... |
OMIM:157900 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Short stature, Large tarsal bones, Recurrent pneumonia, Flared metaphysis, ... |
OMIM:215150 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Severe short stature, Rhizomelia, Bowing of the long bones, Me... |
ORPHA:85167 |
Dihydropyrimidinase Deficiency |
|
Growth delay, Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Clubbing of fingers,... |
ORPHA:2302 |
Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effus... |
OMIM:612387 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Short stature, Arachnodactyly, Postnatal growth retardation, Metatarsus adductus, Recurrent upper... |
OMIM:612513 |
Hypophosphatasia |
|
Emphysema, Short stature, Abnormal metaphysis morphology, Bowing of the long bones |
ORPHA:436 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Clubbing, Bronchiectasis, Honeycomb lu... |
ORPHA:79127 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Disproportio... |
ORPHA:1427 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Calcaneovalgus deformity |
OMIM:162370 |
Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Short stature, Limited elbow movement, Calcaneovalgus deformity, Elbo... |
OMIM:615065 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... |
OMIM:600383 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Proximal upper limb muscle hypertrophy, Pulmonary fibrosis |
ORPHA:254361 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Severe short stature, Broad long bones, Micromelia, Abnormal shoulder morpholog... |
ORPHA:1422 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Bowing of the arm, Atelectasis, Short toe, Anencephaly,... |
OMIM:269860 |
Greenberg Dysplasia |
|
Micromelia, Abnormal lung lobation, Tetraphocomelia, Hypoplasia of the calcaneus, Neonatal death,... |
OMIM:215140 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Broad hallux, Postnatal growth retardation, Slender finger, Small hand, Tibial bowing, Short foot... |
ORPHA:251028 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Short stature, Single transverse palmar crease, Overlapping toe, Camp... |
OMIM:114300 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Arachnodactyly, Short stature, Calcaneovalgus deformity, Adducted thumb, Talipes equinovarus, Cam... |
ORPHA:562528 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Meconium Aspiration Syndrome |
|
Intrauterine growth retardation, Pneumothorax, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Desq... |
OMIM:610921 |
Wiedemann-Steiner Syndrome |
|
Short stature, Tapered finger, Postnatal growth retardation, Contracture of the distal interphala... |
OMIM:605130 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
Larsen Syndrome |
|
Short metacarpal, Short stature, Spatulate thumbs, Elbow dislocation, Dislocated wrist, Short met... |
OMIM:150250 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short stature, Short toe, Short phalanx of finger, Typ... |
OMIM:600430 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Clinodactyly of the 5th finger, Short tibia, Short phalanx of finger... |
OMIM:268305 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology,... |
ORPHA:85438 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epi... |
ORPHA:96334 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of fin... |
OMIM:601559 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Short stature, Camptodactyly of finger, Avascular necrosis of the capital femor... |
ORPHA:77258 |
Martsolf Syndrome 1 |
|
Recurrent respiratory infections, Short metacarpal, Short stature, Metatarsus adductus, Slender u... |
OMIM:212720 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Mild postnatal growth retardation, Short stature, Neonatal epiph... |
OMIM:101800 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Recurrent respiratory infections, Hypoplasia of the ulna, Short stature, Early ossification of ca... |
OMIM:208500 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... |
OMIM:274000 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... |
ORPHA:40366 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Arachnodactyly, Sandal gap, Phalangeal dislocation, Equinus calcaneus, Elbow dislo... |
ORPHA:536532 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Short stature, Sandal gap, Recurrent shoulder dislocation, Long fingers, Calcaneov... |
ORPHA:230851 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Bowing of the long bones, Arachnodactyly, Repeated pneumothoraces, Phalangeal disl... |
ORPHA:536467 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short stature, Spontaneous neonatal pneumothorax, Postnatal growth retardation, Wide anterior fon... |
OMIM:225410 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Postnatal growth retardation, Abnormal hand morphology, Small hand, Broad finger, ... |
OMIM:300845 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Calcaneovalgus deformity |
OMIM:225320 |
X-Linked Intellectual Disability, Hedera Type |
|
Hyporeflexia of upper limbs, Calcaneovalgus deformity |
ORPHA:93952 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst |
ORPHA:2357 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micromelia, Long fingers, Cl... |
OMIM:256520 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Patellar aplasia, Birth length less than 3rd percentile, Slender long bone, Intrau... |
OMIM:613804 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Short metacarpal, Short stature, Toe syndactyly, Short metatarsal, Small hand, ... |
OMIM:170390 |
Opsismodysplasia |
|
Recurrent respiratory infections, Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic ... |
OMIM:258480 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis, Weight loss |
ORPHA:2902 |
Osteoglophonic Dysplasia |
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Short metacarpal, Severe short stature, Rhizomelia, Hypoplastic scapulae, Bowing of the long bone... |
OMIM:166250 |
Tracheobronchopathia Osteochondroplastica |
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Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
Fanconi Renotubular Syndrome 5 |
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Emphysema, Genu valgum, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Prominent calcaneus, Intrauterine growth retardation |
ORPHA:565624 |
Farber Disease |
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Short stature, Nodular pattern on pulmonary HRCT, Abnormality of the hand, Atelectasis, Short toe... |
ORPHA:333 |
Campomelic Dysplasia |
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Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... |
OMIM:114290 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... |
OMIM:610978 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific... |
OMIM:271665 |
Nivelon-Nivelon-Mabille Syndrome |
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Short metacarpal, Severe short stature, Micromelia, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Short metacarpal, Limited elbow movement, Preaxial hand polydactyly, Enlarged metaphyses, Disprop... |
ORPHA:508533 |
Myotubular Myopathy With Abnormal Genital Development |
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Neonatal death, Atelectasis |
OMIM:300219 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Ra... |
OMIM:304120 |
Nicolaides-Baraitser Syndrome |
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Long toe, Recurrent respiratory infections, Short metacarpal, Hallux valgus, Short stature, Singl... |
OMIM:601358 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Sandal gap, Single transverse palmar crease, Atelectasis, Recurrent pneumonia, Growth delay, Pulm... |
OMIM:613177 |
Meier-Gorlin Syndrome 1 |
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Coxa valga, Elbow dislocation, Aplasia/Hypoplasia of the patella, Flat glenoid fossa, Patellar ap... |
OMIM:224690 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Tibial bowing, Shoulder dislocation, Short phalanx of finger, Bilateral single transverse palmar ... |
OMIM:143095 |
Ellis Van Creveld Syndrome |
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Micromelia, Cubitus valgus, Capitate-hamate fusion, Genu valgum, Aplasia/Hypoplasia of the lungs,... |
ORPHA:289 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Recurrent respiratory infections, Rhizomelia, Short stature, Wide anterior fontanel, Phalangeal c... |
OMIM:266920 |
Codas Syndrome |
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Short humerus, Short metacarpal, Congenital hip dislocation, Short stature, Metaphyseal dysplasia... |
OMIM:600373 |
Meier-Gorlin Syndrome 6 |
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Recurrent respiratory infections, Severe short stature, Sandal gap, Patellar aplasia, Hip dysplas... |
OMIM:616835 |
Cutis Laxa, Autosomal Recessive, Type Ia |
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Umbilical hernia, Emphysema, Arachnodactyly, Recurrent respiratory infections |
OMIM:219100 |
Kid Syndrome |
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Coxa valga, Postnatal growth retardation, Equinus calcaneus, Patellar hypoplasia, Palmoplantar ke... |
ORPHA:477 |
Ciliary Dyskinesia, Primary, 1 |
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Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat... |
OMIM:620233 |
Arteriosclerosis, Severe Juvenile |
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Hip dysplasia, Short stature, Short phalanx of finger, Delayed puberty |
OMIM:208060 |
Rhombencephalosynapsis |
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Finger syndactyly, Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx |
ORPHA:59315 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
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Long fingers, Calcaneovalgus deformity, Abnormality of the palmar creases, Tapered finger |
ORPHA:521445 |
Frank-Ter Haar Syndrome |
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Bowing of the long bones, Metatarsus adductus, Wide anterior fontanel, Flared metaphysis, Growth ... |
OMIM:249420 |
Rothmund-Thomson Syndrome Type 2 |
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Short metacarpal, Short stature, Aplasia/hypoplasia involving bones of the upper limbs, Metaphyse... |
ORPHA:221016 |
Robinow Syndrome, Autosomal Dominant 3 |
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Syndactyly, Short stature, Mesomelia, Pulmonary artery atresia, Clinodactyly, Short phalanx of fi... |
OMIM:616894 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Growth delay, Osteolytic defects of the distal phalanges of the hand, Short clavicles, Short phal... |
OMIM:608612 |
Rothmund-Thomson Syndrome Type 1 |
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Short metacarpal, Short stature, Metaphyseal sclerosis, Patellar aplasia, Finger symphalangism, P... |
ORPHA:221008 |
Mitochondrial Trifunctional Protein Deficiency |
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Equinus calcaneus |
ORPHA:746 |
Marfan Syndrome |
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Arachnodactyly, Protrusio acetabuli, Equinus calcaneus, Metatarsus adductus, Emphysema, Pneumotho... |
OMIM:154700 |
Bartsocas-Papas Syndrome 1 |
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Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
Autosomal Dominant Hyper-Ige Syndrome |
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Atelectasis, Recurrent respiratory infections |
ORPHA:2314 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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Proportionate short stature, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Growt... |
OMIM:619269 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Bilateral talipes equinovarus, 2-3 toe syndactyly, Equinus calcaneus |
ORPHA:522077 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hand muscle atrophy, Recurrent respiratory infections, Anomaly of lower limb diaphyses, Arachnoda... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Hand muscle atrophy, Recurrent respiratory infections, Anomaly of lower limb diaphyses, Arachnoda... |
ORPHA:363958 |
Focal Dermal Hypoplasia |
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Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... |
OMIM:305600 |
22Q11.2 Deletion Syndrome |
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Short stature, Arachnodactyly, Spina bifida, Atelectasis, Meningocele, Abnormal lung lobation, Oc... |
ORPHA:567 |
Nance-Horan Syndrome |
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Short phalanx of finger, Broad finger |
OMIM:302350 |
Oculocerebrorenal Syndrome Of Lowe |
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Recurrent respiratory infections, Short stature, Atelectasis, Hip dislocation, Genu valgum, Abnor... |
ORPHA:534 |
Whim Syndrome |
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Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
Keutel Syndrome |
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Recurrent bronchitis, Short hallux, Premature fusion of phalangeal epiphyses, Short thumb, Shorte... |
OMIM:245150 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Irregular iliac crest, Short stature,... |
ORPHA:99646 |
Ehlers-Danlos Syndrome, Vascular Type |
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Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Short stature, Repeated pneumothoraces, Nod... |
OMIM:130050 |
Lymphangioleiomyomatosis |
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Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylothorax, Emphysema, Pulmonary ly... |
ORPHA:538 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Atelectasis, Recurrent lower respiratory tract infections, Decreased body weight |
ORPHA:258 |
Lujo Hemorrhagic Fever |
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Atelectasis |
ORPHA:319213 |
Chand Syndrome |
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Atelectasis, Short fifth metatarsal |
ORPHA:1401 |
Ciliary Dyskinesia, Primary, 20 |
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Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Atelectasis, Recurrent respiratory infections, Failure to thrive, Pulmonary fibrosis |
OMIM:618278 |
Zygomycosis |
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Acute infectious pneumonia, Atelectasis, Pleural effusion, Pneumothorax |
ORPHA:73263 |
Granulomatous Disease, Chronic, X-Linked |
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Atelectasis, Pleural effusion, Recurrent pneumonia |
OMIM:306400 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Respiratory tract infection, Atelectasis |
ORPHA:365 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Short stature, Pulmonary artery... |
ORPHA:261537 |
Genitopatellar Syndrome |
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Hip contracture, Congenital hip dislocation, Patellar aplasia, Inferior pubic ramus hypoplasia, R... |
OMIM:606170 |
Mowat-Wilson Syndrome |
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Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Short stature, Pulmonary artery... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Short stature, Pulmonary artery... |
ORPHA:261552 |
Digeorge Syndrome |
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Short stature, Atelectasis, Recurrent pneumonia, Recurrent sinusitis, Umbilical hernia |
OMIM:188400 |
Craniosynostosis And Dental Anomalies |
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Hallux valgus, Broad hallux, Short stature, 2-3 toe syndactyly, Clinodactyly, Short phalanx of fi... |
OMIM:614188 |
Relapsing Polychondritis |
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Atelectasis |
ORPHA:728 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Rhizomelia, Single transverse palmar crease, Mesomelic/rhizomelic lim... |
OMIM:601803 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
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Genu valgum |
OMIM:614880 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Eunuchoid habitus, Delayed puberty |
ORPHA:432 |
Kallmann Syndrome |
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Obesity, Delayed puberty |
ORPHA:478 |