Keratoendotheliitis Fugax Hereditaria |
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Keratitis, Epiphora, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Corneal Dystrophy, Meesmann, 1 |
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Punctate opacification of the cornea, Corneal dystrophy, Epiphora |
OMIM:122100 |
Alacrima, Congenital, Autosomal Dominant |
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Lacrimal gland hypoplasia, Punctate corneal epithelial erosions, Alacrima, Decreased lacrimation |
OMIM:103420 |
Corneal Dystrophy, Meesmann, 2 |
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Epiphora, Recurrent corneal erosions |
OMIM:618767 |
Epithelial Recurrent Erosion Dystrophy |
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Corneal erosion, Epiphora |
OMIM:122400 |
Limbal Stem Cell Deficiency |
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Lacrimation abnormality, Opacification of the corneal epithelium, Generalized opacification of th... |
ORPHA:171673 |
Alacrima, Congenital, Autosomal Recessive |
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Punctate corneal epithelial erosions, Alacrima |
OMIM:601549 |
Vernal Keratoconjunctivitis |
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Lacrimation abnormality, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate ke... |
ORPHA:70476 |
Herpes Simplex Virus Stromal Keratitis |
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Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Epithelial Recurrent Erosion Dystrophy |
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Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Ring Dermoid Of Cornea |
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Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
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Anisocoria, Alacrima |
OMIM:300858 |
Gelatinous Drop-Like Corneal Dystrophy |
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Subepithelial corneal opacities, Central opacification of the cornea, Conjunctival amyloidosis, C... |
ORPHA:98957 |
Isolated Congenital Alacrima |
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Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Alacrima |
ORPHA:91416 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
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Corneal ulceration, Corneal scarring, Decreased lacrimation |
OMIM:616488 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
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Alacrima |
OMIM:240000 |
Neurotrophic Keratopathy |
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Lacrimation abnormality, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal ... |
ORPHA:137596 |
Posterior Polymorphous Corneal Dystrophy |
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Increased corneal curvature, Corneal opacity, Lacrimation abnormality, Uveal ectropion, Abnormal ... |
ORPHA:98973 |
Dacryocystitis-Osteopoikilosis Syndrome |
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Lacrimation abnormality |
ORPHA:1562 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Keratoconus, Conjunctivitis, Decreased lacrimation |
OMIM:242150 |
Lacrimal Duct Defect |
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Dacryocystocele, Conjunctivitis, Epiphora |
OMIM:149700 |
Keratosis Pilaris Atrophicans |
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Epiphora |
OMIM:604093 |
Paroxysmal Extreme Pain Disorder |
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Lacrimation abnormality |
OMIM:167400 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
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Lacrimation abnormality |
ORPHA:1484 |
Hydroa Vacciniforme |
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Keratitis, Epiphora |
ORPHA:330058 |
Classic Progressive Supranuclear Palsy Syndrome |
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Conjunctival hyperemia, Decreased lacrimation |
ORPHA:240071 |
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux |
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Alacrima |
OMIM:608088 |
Laryngotracheoesophageal Cleft |
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Neonatal respiratory distress, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow response, ... |
ORPHA:2004 |
Growth Hormone Deficiency, Isolated Partial |
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Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
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Anisocoria, Alacrima |
ORPHA:289483 |
Lacrimoauriculodentodigital Syndrome 2 |
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Conjunctivitis, Alacrima |
OMIM:620192 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
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Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
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Conjunctivitis, Alacrima, Lacrimal duct stenosis |
OMIM:615560 |
Cockayne Syndrome Type 1 |
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Cryptorchidism, Cataract, Conjunctivitis, Decreased lacrimation |
ORPHA:90321 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
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Lacrimation abnormality |
ORPHA:1135 |
Intestinal Botulism |
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Respiratory insufficiency due to muscle weakness, Dyspnea, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Familial Dysautonomia |
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Corneal opacity, Abnormal pupil morphology, Corneal erosion, Heterochromia iridis, Alacrima |
ORPHA:1764 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
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Lacrimation abnormality |
ORPHA:1882 |
Chronic Pneumonitis Of Infancy |
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Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Frontonasal Dysplasia 2 |
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Bilateral cryptorchidism, Decreased lacrimation |
OMIM:613451 |
Central Hypoventilation Syndrome, Congenital, 3 |
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Apnea, Central hypoventilation, Chronic constipation, Respiratory failure, Episodic vomiting |
OMIM:619483 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Cryptorchidism, Heterochromia iridis, Alacrima, Decreased lacrimation |
OMIM:609136 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Alacrima, Corneal ulceration, Recurrent corneal erosions |
OMIM:223900 |
Nasolacrimal Duct Cyst |
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Chronic irritative conjunctivitis, Corneal astigmatism, Nasolacrimal duct obstruction, Dacryocyst... |
ORPHA:141083 |
Graft Versus Host Disease |
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Decreased lacrimation |
ORPHA:39812 |
Blepharonasofacial Malformation Syndrome |
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Cryptorchidism, Lacrimation abnormality |
ORPHA:1252 |
Stuve-Wiedemann Syndrome 1 |
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Opacification of the corneal stroma, Decreased lacrimation |
OMIM:601559 |
Sunct Syndrome |
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Conjunctival hyperemia, Increased tear production, Epiphora |
ORPHA:57145 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Anisocoria, Alacrima |
OMIM:231550 |
Trisomy 8P |
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Cryptorchidism, Astigmatism, Aplasia/Hypoplasia of the gallbladder, Annular pancreas, Heterochrom... |
ORPHA:264450 |
Haddad Syndrome |
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Small for gestational age, Central hypoventilation, Polyhydramnios, Breathing dysregulation, Gast... |
ORPHA:99803 |
Cockayne Syndrome |
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Cataract, Band keratopathy, Cryptorchidism, Developmental cataract, Keratoconjunctivitis sicca, A... |
ORPHA:191 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
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Neonatal respiratory distress, Decreased response to growth hormone stimulation test, Polyhydramn... |
OMIM:618922 |
Cleft Larynx, Posterior |
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Aspiration |
OMIM:215800 |
Paroxysmal Hemicrania |
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Conjunctival hyperemia, Epiphora |
ORPHA:157835 |
Cockayne Syndrome B |
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Cryptorchidism, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the... |
OMIM:133540 |
Obesity-Hypoventilation Syndrome |
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Hypoventilation, Obesity |
OMIM:257500 |
Focal Facial Dermal Dysplasia Type Iii |
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Lacrimation abnormality |
ORPHA:1807 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Corneal neovascularization, Corneal scarring, Decreased lacrimation |
ORPHA:404454 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Elevated circulating luteinizing hormone level, Polycystic ovaries, Lacrimal gland ... |
ORPHA:572333 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Conjunctival hyperemia, Epiphora |
OMIM:167730 |
Lacrimoauriculodentodigital Syndrome 3 |
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Alacrima |
OMIM:620193 |
Corneal Endothelial Dystrophy |
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Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Yao Syndrome |
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Asthma, Xerostomia, Diarrhea, Weight loss |
OMIM:617321 |
Helix Syndrome |
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Hyperparathyroidism, Alacrima |
OMIM:617671 |
Persistent Hyperplastic Primary Vitreous |
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Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Cockayne Syndrome A |
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Cryptorchidism, Cataract, Opacification of the corneal stroma, Decreased lacrimation |
OMIM:216400 |
Iatrogenic Botulism |
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Dyspnea, Constipation, Xerostomia, Dysphagia |
ORPHA:254509 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
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Anisocoria, Alacrima |
OMIM:615510 |
Chondroectodermal Dysplasia With Night Blindness |
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Epiphora |
ORPHA:319195 |
Kilquist Syndrome |
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Alacrima |
OMIM:619080 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Heterochromia iridis, Decreased lacrimation |
ORPHA:163746 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Alacrima, Corneal scarring |
OMIM:614653 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
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Astigmatism, Alacrima |
OMIM:618548 |
Branchiootorenal Syndrome 1 |
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Gustatory lacrimation, Lacrimation abnormality, Euthyroid goiter, Lacrimal duct stenosis |
OMIM:113650 |
Waardenburg Syndrome Type 1 |
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Lacrimation abnormality, Heterochromia iridis |
ORPHA:894 |
Inhalational Botulism |
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Dyspnea, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Conjunctival hyperemia, Cataract, Corneal opacity, Epiphora |
ORPHA:2399 |
Foodborne Botulism |
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Respiratory insufficiency due to muscle weakness, Diarrhea, Xerostomia, Cardiorespiratory arrest,... |
ORPHA:228371 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Cataract, Alacrima |
OMIM:615356 |
Botulism |
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Diarrhea, Xerostomia, Respiratory insufficiency, Constipation, Dysphagia |
ORPHA:1267 |
Achalasia, Familial Esophageal |
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Achalasia, Xerostomia |
OMIM:200400 |
Amyotrophic Lateral Sclerosis |
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Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology |
ORPHA:803 |
Congenital Disorder Of Glycosylation, Type Im |
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Aspiration, Diarrhea, Failure to thrive, Vomiting |
OMIM:610768 |
Congenital Disorder Of Deglycosylation 1 |
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Corneal ulceration, Corneal opacity, Alacrima |
OMIM:615273 |
Developmental And Epileptic Encephalopathy 38 |
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Aspiration, Gastroesophageal reflux |
OMIM:617020 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Cryptorchidism, Alacrima |
OMIM:619005 |
Mucoepithelial Dysplasia, Hereditary |
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Cataract, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovascularization, ... |
OMIM:158310 |
Antisynthetase Syndrome |
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Edema, Cough, Xerostomia, Respiratory insufficiency, Dysphagia, Pulmonary arterial hypertension |
ORPHA:81 |
Erythermalgia, Primary |
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Diarrhea, Constipation, Xerostomia, Hyperhidrosis |
OMIM:133020 |
Deeah Syndrome |
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Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:619004 |
Hyperostosis Cranialis Interna |
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Epiphora |
OMIM:144755 |
Hyperekplexia 1 |
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Aspiration, Apnea |
OMIM:149400 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... |
ORPHA:293987 |
Acrocraniofacial Dysostosis |
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Lacrimation abnormality |
ORPHA:949 |
Cone-Rod Dystrophy 10 |
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Epiphora |
OMIM:610283 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
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Pterygium, Nasolacrimal duct obstruction, Epiphora |
OMIM:224230 |
Infant Botulism |
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Bowel incontinence, Respiratory insufficiency due to muscle weakness, Dyspnea, Xerostomia, Consti... |
ORPHA:178478 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Hypoventilation, Respiratory insufficiency, Dysphagia, Pulmonary arterial hypertension, Respirato... |
ORPHA:258 |
Pontine Tegmental Cap Dysplasia |
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Aspiration, Failure to thrive, Dysphagia |
OMIM:614688 |
Lacrimoauriculodentodigital Syndrome 1 |
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Absence of Stensen duct, Nasolacrimal duct obstruction, Lacrimal gland hypoplasia, Conjunctivitis... |
OMIM:149730 |
Waardenburg Syndrome |
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Lacrimation abnormality, Heterochromia iridis |
ORPHA:3440 |
Amyotrophic Lateral Sclerosis 21 |
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Respiratory insufficiency due to muscle weakness, Aspiration, Dysphagia |
OMIM:606070 |
Reynolds Syndrome |
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Xerostomia, Respiratory insufficiency, Gastroesophageal reflux, Dysphagia, Ascites |
ORPHA:779 |
Alternating Hemiplegia Of Childhood |
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Respiratory distress, Apnea, Oral-pharyngeal dysphagia, Diarrhea, Dehydration, Hyperhidrosis, Vom... |
ORPHA:2131 |
Vocal Cord And Pharyngeal Distal Myopathy |
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Respiratory insufficiency due to muscle weakness, Aspiration, Dysphagia |
ORPHA:600 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Lacrimation abnormality |
ORPHA:2916 |
Cone-Rod Dystrophy 8 |
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Epiphora |
OMIM:605549 |
Esophageal Atresia |
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Respiratory distress, Small for gestational age, Failure to thrive in infancy, Polyhydramnios, Ep... |
ORPHA:1199 |
Johanson-Blizzard Syndrome |
|
Lacrimation abnormality |
ORPHA:2315 |
Tay-Sachs Disease |
|
Aspiration |
OMIM:272800 |
Sjogren Syndrome |
|
Xerostomia |
OMIM:270150 |
Oculopharyngodistal Myopathy 1 |
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Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Central Hypoventilation Syndrome, Congenital, 1 |
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Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hyperhidrosis, Hypoxemia, Chronic c... |
OMIM:209880 |
Carcinoid Syndrome |
|
Epiphora |
ORPHA:100093 |
Postorgasmic Illness Syndrome |
|
Xerostomia, Hyperhidrosis |
ORPHA:279947 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Small for gestational age, Decreased response to growth hormone stimulation test, Hyperhidrosis, ... |
ORPHA:96182 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Epiphora |
OMIM:616353 |
Eec Syndrome |
|
Lacrimation abnormality, Decreased response to growth hormone stimulation test, Keratitis, Cornea... |
ORPHA:1896 |
Halperin-Birk Syndrome |
|
Aspiration, Pseudobulbar paralysis, Failure to thrive, Gastroesophageal reflux |
OMIM:618651 |
Schinzel-Giedion Syndrome |
|
Annular pancreas, Streak ovary, Alacrima |
ORPHA:798 |
Spinocerebellar Ataxia Type 8 |
|
Aspiration, Dysphagia |
ORPHA:98760 |
Diffuse Cutaneous Systemic Sclerosis |
|
Dyspnea, Xerostomia, Gastroesophageal reflux, Dysphagia, Pulmonary arterial hypertension |
ORPHA:220393 |
Adiposis Dolorosa |
|
Diarrhea, Xerostomia, Obesity, Constipation, Hypothyroidism |
ORPHA:36397 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Xerostomia, Hypohidrosis, Cough, Failure to thrive |
ORPHA:238468 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration, Dysphagia |
ORPHA:2148 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Gastroparesis, Dyspnea, Nonproductive cough, Xerostomia, Weight loss... |
ORPHA:85443 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Cataract, Corneal opacity, Lacrimation abnormality, Cryptorchidism, Abnormal... |
ORPHA:534 |
Gm2-Gangliosidosis, Ab Variant |
|
Aspiration |
OMIM:272750 |
Prune Belly Syndrome |
|
Xerostomia, Oligohydramnios |
OMIM:100100 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Gastritis, Dyspnea, Xerostomia, Joint swelling, Gastroesophageal ref... |
ORPHA:809 |
Rett Syndrome, Congenital Variant |
|
Aspiration, Constipation, Gastroesophageal reflux |
OMIM:613454 |
Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Cryptorchidism, Keratoconjunctivitis, Keratoconjunctivitis sicca, Re... |
ORPHA:2363 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Diarrhea, Xerostomia, Hematochezia, Vomiting |
OMIM:175500 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Cryptorchidism, Epiphora |
OMIM:613990 |
Dyskeratosis Congenita, Digenic |
|
Decreased testicular size, Epiphora |
OMIM:620040 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Xerostomia, Chronic constipation, Decreased body weight, Severe failure to ... |
ORPHA:1051 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Opitz Gbbb Syndrome |
|
Aspiration, Gastroesophageal reflux, Dysphagia |
OMIM:300000 |
Burning Mouth Syndrome |
|
Xerostomia |
ORPHA:353253 |
Adnp Syndrome |
|
Respiratory distress, Oral-pharyngeal dysphagia, Chronic constipation, Truncal obesity, Gastroeso... |
ORPHA:404448 |
Williams Syndrome |
|
Flat cornea, Corneal opacity, Cataract, Lacrimation abnormality, Cryptorchidism, Blue irides, Pol... |
ORPHA:904 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Anhidrosis, Rhinitis, Xerostomia |
OMIM:614941 |
Charge Syndrome |
|
Cryptorchidism, Anterior hypopituitarism, Lacrimation abnormality, Iris coloboma |
ORPHA:138 |
Aplasia Of Lacrimal And Salivary Glands |
|
Xerostomia |
OMIM:180920 |
Developmental And Epileptic Encephalopathy 100 |
|
Aspiration, Gastroesophageal reflux, Dysphagia, Chronic constipation |
OMIM:619777 |
Amoebiasis Due To Free-Living Amoebae |
|
Corneal perforation, Conjunctival hyperemia, Corneal ulceration, Increased tear production |
ORPHA:68 |
Dyskeratosis Congenita, X-Linked |
|
Cataract, Cryptorchidism, Conjunctivitis, Pterygium, Decreased testicular size, Epiphora |
OMIM:305000 |
Bilateral Perisylvian Polymicrogyria |
|
Apnea, Pseudobulbar paralysis, Gastroesophageal reflux, Dysphagia, Aspiration |
ORPHA:98889 |
Chronic Graft Versus Host Disease |
|
Dyspnea, Wheezing, Pneumothorax, Xerostomia, Bronchiectasis, Dysphagia, Diarrhea, Weight loss, Ga... |
ORPHA:99921 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Enlarged lacrimal glands, Epiphora |
OMIM:181000 |
Stüve-Wiedemann Syndrome |
|
Lacrimation abnormality, Ectopic thyroid |
ORPHA:3206 |
Ogden Syndrome |
|
Pulmonary edema, Apnea, Lymphedema, Diarrhea, Pulmonary arterial hypertension, Restrictive ventil... |
OMIM:300855 |
Lambert-Eaton Myasthenic Syndrome |
|
Constipation, Xerostomia, Hypohidrosis |
ORPHA:43393 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Symblepharon, Keratitis, Corneal erosion, Keratoconjunctivitis sicca, Conjunctivitis, Increased t... |
ORPHA:95455 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Neonatal respiratory distress, Apnea, Decreased response to growth hormone stimulation test, Feta... |
OMIM:619503 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Pneumonia, Polyhydramnios, Asthma, Obesity, Gastroesophageal reflux, Constipation, Aspiration, Fa... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Pneumonia, Polyhydramnios, Asthma, Obesity, Gastroesophageal reflux, Constipation, Aspiration, Fa... |
ORPHA:353277 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Facial edema, Xerostomia, Thyroiditis, Weight loss |
ORPHA:79078 |
Igg4-Related Submandibular Gland Disease |
|
Facial edema, Periorbital edema, Prostatitis, Xerostomia |
ORPHA:449432 |
Blau Syndrome |
|
Dyspnea, Joint swelling, Xerostomia, Pulmonary arterial hypertension |
ORPHA:90340 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
|
ORPHA:2337 |
Palmoplantar Keratoderma, Bothnian Type |
|
|
OMIM:600231 |