| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (52.1%) |
11460259 |
Septo-optic dysplasia as a manifestation of valproic acid embryopathy. McMahon CL, Braddock SR. Teratology. 2001;64(2):83-6. |
| Short palpebral fissure Clinodactyly | ||
| Abnormalities, Drug-Induced Antimanic Agents Child, Preschool Eye Abnormalities Females Homo sapiens Infant, Newborn Maternal-Fetal Exchange Optic Chiasms Pregnancy Pregnancy Complications Septum Pellucidum | ||
| 2 (45.7%) |
4026611 |
Absence of the septum pellucidum. Overlapping clinical syndromes. Morgan SA, Emsellem HA, Sandler JR. Arch Neurol. 1985;42(8):769-70. |
| Seizure Hemiatrophy | ||
| Adult Blindness Brain Diseases Homo sapiens Male Septum Pellucidum Syndrome | ||
| 3 (39.0%) |
25848158 |
Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele. Kavarodi AM, Zharani K, Ali el-S, Sharahili H. J Maxillofac Oral Surg. 2015;14(Suppl 1):457-61. |
| Encephalocele | ||
| 3 (39.0%) |
22665004 |
The association of sphenoidal encephalocele and right anophthalmia with septo-optic dysplasia: a case report. Erol FS, Ucler N, Kaplan M, Yilmaz I. Turk Neurosurg. 2012;22(3):346-8. |
| Encephalocele | ||
| Anophthalmos Child Differential Diagnosis Homo sapiens Magnetic Resonance Imaging Male Optic Nerve Septo-Optic Dysplasia X-Ray Computed Tomography | ||
| 3 (39.0%) |
19766496 |
Septo-optic dysplasia with encephalocele. Periakaruppan A, Pendharkar HS, Gupta AK, Thomas B, Kesavdas C. J Clin Neurosci. 2009;16(12):1665-7. |
| Encephalocele | ||
| Females Homo sapiens Magnetic Resonance Imaging Malformations of Cortical Development Septo-Optic Dysplasia Vision Disorders Young Adult | ||
| 3 (39.0%) |
17560504 |
Bilateral periventricular nodular heterotopia with amniotic band syndrome. Ruggieri M, Spalice A, Polizzi A, Roggini M, Iannetti P. Pediatr Neurol. 2007;36(6):407-10. |
| Acrania | ||
| FLNA | ||
| Amniotic Band Syndrome Brain Diseases Cerebral Ventricles Child Congenital Foot Deformity Ectopic Tissue Females Homo sapiens Infant, Newborn Magnetic Resonance Imaging | ||
| 3 (39.0%) |
11465791 |
Neuroendoscopic third ventriculostomy in dysmorphic brains. Cartmill M, Jaspan T, McConachie N, Vloeberghs M. Childs Nerv Syst. 2001;17(7):391-4. |
| Dandy-Walker malformation | ||
| Brain Cerebral Ventricles Dandy-Walker Syndrome Females Homo sapiens Hydrocephalus Infant Magnetic Resonance Imaging Ventriculostomy | ||
| 3 (39.0%) |
8323485 |
Midline cerebral dysgenesis, dysfunction of the hypothalamic-pituitary axis, and fetal alcohol effects. Coulter CL, Leech RW, Schaefer GB, Scheithauer BW, Brumback RA. Arch Neurol. 1993;50(7):771-5. |
| Microcephaly | ||
| PRL | ||
| Brain Females Fetal Alcohol Spectrum Disorders Homo sapiens Infant, Newborn Optic Nerve Septum Pellucidum | ||
| 9 (31.0%) |
17304383 |
Apert syndrome with septum pellucidum agenesis. Tiwari A, Agrawal A, Pratap A, Lakshmi R, Narad R. Singapore Med J. 2007;48(2):e62-5. |
| Syndactyly | ||
| Acrocephalosyndactylia Adult Females Homo sapiens Phenotype Septum Pellucidum | ||
| 10 (26.3%) |
6776354 |
[Response of prolactin to thyrotrophin-RH(TRH) and chlorpromazine stimulation in the syndrome of hypogonadism and anosmia (author's transl)]. Garcia-Peris P, Jara Albarran A, Eusebio Ocumares R, Haj-Ali MF, Toledano Marin E, Salmeron de Diego J, Cabellero Asensi A, Palacios Mateos JM. Med Clin (Barc). 1980;75(7):273-8. |
| Hypogonadism Anosmia | ||
| STH | ||
| Adult Females Homo sapiens Hypogonadism Male Olfaction Disorders Stimulation, Chemical Syndrome |
Total: 33
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000505 | Visual impairment | Very frequent (99-80%) |
| HP:0000609 | Optic nerve hypoplasia | Very frequent (99-80%) |
| HP:0100842 | Septo-optic dysplasia | Very frequent (99-80%) |
| HP:0000028 | Cryptorchidism | Frequent (79-30%) |
| HP:0000175 | Cleft palate | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000639 | Nystagmus | Frequent (79-30%) |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001274 | Agenesis of corpus callosum | Frequent (79-30%) |
| HP:0001331 | Absent septum pellucidum | Frequent (79-30%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0004374 | Hemiplegia/hemiparesis | Frequent (79-30%) |
| HP:0008736 | Hypoplasia of penis | Frequent (79-30%) |
| HP:0010627 | Anterior pituitary hypoplasia | Frequent (79-30%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (29-5%) |
| HP:0000458 | Anosmia | Occasional (29-5%) |
| HP:0000717 | Autism | Occasional (29-5%) |
| HP:0000873 | Diabetes insipidus | Occasional (29-5%) |
| HP:0000958 | Dry skin | Occasional (29-5%) |
| HP:0000966 | Hypohidrosis | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001263 | Global developmental delay | Occasional (29-5%) |
| HP:0001513 | Obesity | Occasional (29-5%) |
| HP:0001959 | Polydipsia | Occasional (29-5%) |
| HP:0002019 | Constipation | Occasional (29-5%) |
| HP:0002032 | Esophageal atresia | Occasional (29-5%) |
| HP:0002360 | Sleep disturbance | Occasional (29-5%) |
| HP:0002564 | obsolete Malformation of the heart and great vessels | Occasional (29-5%) |
| HP:0002575 | Tracheoesophageal fistula | Occasional (29-5%) |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | Occasional (29-5%) |
| HP:0009800 | Maternal diabetes | Occasional (29-5%) |
| HP:0012378 | Fatigue | Occasional (29-5%) |
Total: 59
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000609 | Optic nerve hypoplasia | 32 |
| HP:0040075 | Hypopituitarism | 11 |
| HP:0001331 | Absent septum pellucidum | 10 |
| HP:0000824 | Growth hormone deficiency | 5 |
| HP:0000873 | Diabetes insipidus | 4 |
| HP:0000135 | Hypogonadism | 3 |
| HP:0000952 | Jaundice | 3 |
| HP:0001302 | Pachygyria | 3 |
| HP:0002084 | Encephalocele | 3 |
| HP:0000528 | Anophthalmia | 2 |
| HP:0000618 | Blindness | 2 |
| HP:0000639 | Nystagmus | 2 |
| HP:0000648 | Optic atrophy | 2 |
| HP:0000823 | Delayed puberty | 2 |
| HP:0000839 | Pituitary dwarfism | 2 |
| HP:0001250 | Seizures | 2 |
| HP:0001943 | Hypoglycemia | 2 |
| HP:0002539 | Cortical dysplasia | 2 |
| HP:0032327 | Interhemispheric cyst | 2 |
| HP:0000141 | Amenorrhea | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000458 | Anosmia | 1 |
| HP:0000501 | Glaucoma | 1 |
| HP:0000505 | Visual impairment | 1 |
| HP:0000541 | Retinal detachment | 1 |
| HP:0000568 | Microphthalmia | 1 |
| HP:0000709 | Psychosis | 1 |
| HP:0000821 | Hypothyroidism | 1 |
| HP:0000846 | Adrenal insufficiency | 1 |
| HP:0000939 | Osteoporosis | 1 |
| HP:0001093 | Optic nerve dysplasia | 1 |
| HP:0001305 | Dandy-Walker malformation | 1 |
| HP:0001338 | Partial agenesis of the corpus callosum | 1 |
| HP:0001396 | Cholestasis | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001607 | Subglottic stenosis | 1 |
| HP:0002039 | Anorexia | 1 |
| HP:0002045 | Hypothermia | 1 |
| HP:0002323 | Anencephaly | 1 |
| HP:0002612 | Congenital hepatic fibrosis | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0003201 | Rhabdomyolysis | 1 |
| HP:0003546 | Exercise intolerance | 1 |
| HP:0003634 | Amyoplasia | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0006772 | Renal angiomyolipoma | 1 |
| HP:0006899 | Fusion of the cerebellar hemispheres | 1 |
| HP:0006934 | Congenital nystagmus | 1 |
| HP:0007165 | Periventricular heterotopia | 1 |
| HP:0007902 | Vitreous hemorrhage | 1 |
| HP:0008237 | Hypothalamic hypothyroidism | 1 |
| HP:0011499 | Mydriasis | 1 |
| HP:0011755 | Ectopic posterior pituitary | 1 |
| HP:0012032 | Lipoma | 1 |
| HP:0012377 | Hemianopia | 1 |
| HP:0030283 | Partial absence of the septum pellucidum | 1 |
| HP:0030521 | Bitemporal hemianopia | 1 |
| HP:0030716 | Acrania | 1 |
| HP:0100556 | Hemiatrophy | 1 |
Total: 7